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1-alpha-hydroxylase deficiency 10p12p11 microdeletion syndrome 10p13-p14 deletion syndrome 10p15.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11-beta-hydroxysteroid dehydrogenase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 11p11.2 deletion syndrome 11p15.4 microduplication syndrome 11q terminal deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21 microdeletion syndrome 12q24.31 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q22 deletion syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 17q24.2 microdeletion syndrome 18p deletion syndrome 18q deletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1p36.33 duplication syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11.2 deletion syndrome (Velocardiofacial syndrome) 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2A syndrome 2p13.2 microdeletion syndrome 2p14p15 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 contiguous gene deletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2p25.3 microduplication syndrome 2q13 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q31.1 microdeletion syndrome 2q32q33 deletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-M syndrome 3-mercaptopyruvate sulfurtransferase deficiency 3-methylglutaconic aciduria 3-methylglutaconic aciduria epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic aciduria neonatal cataract-neurologic involvement congenital neutropenia syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3MC syndrome 3MG-CoA hydratase deficiency 3p deletion syndrome 3q subtelomere deletion syndrome 3q13 microdeletion syndrome 3q23 microdeletion syndrome 3q26 microduplication syndrome 3q27.1 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microduplication syndrome 3qter deletion syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 45,X/46,XX mosaicism 45,X/46,XX syndrome 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgen excess 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone resistance 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to maternal exposure to endocrine disruptors 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial luteinizing hormone resistance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development due to testosterone synthesis defect 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Abortion - Spontaneous Abruptio Placentae Achlorhydria Acrocephalopolysyndactyly type III (Bixler-Christian-Gorlin syndrome) Acromegaly Actinic lichen planus Acute Myeloid Leukaemia Addison's Disease Adult Still's Disease AIDS Allergic Bronchopulmonary Disease Allergic Reactions Allergic Rhinitis Alpha 1-Antitrypsin Deficiency Alpha Thalassaemia Carrier Alpha Thalassaemia Trait Amyloidosis Anaemia Anaemia - Aplastic Anaphylactoid Reaction - Severe Anencephaly Ankylosing Spondylitis Antley-Bixler Syndrome Aortic Aneurysm Aortic Coarctation Aortic Dilatation Aortic Dissection Aortic Regurgitation Aortic Rupture Aortic Stenosis Aortic Valve Insufficiency Aphasia - Progressive Nonfluent Appendicitis Arteriosclerosis Arthritis Asthma Atelactasis Atrial Septal Defect Atrophic Gastritis Attention Deficit Hyperactivity Disorder (ADHD) Autism B-ALL with t(9;22)(q34.1;q11.2) B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and T-cell anergy disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell lymphoma B-cell NHL B-cell non-Hodgkin lymphoma B-cell prolymphocytic leukemia B-K mole syndrome B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); KMT2A rearranged B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome B4GALT1-CDG B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BACH2-related immunodeficiencyautoimmunity syndrome Bachmann-Bupp syndrome Bacteriaemia Bacterial myositis Bacterial toxic shock syndrome Bader syndrome BAG3-related myofibrillar myopathy Bahemuka-Brown syndrome Bailey-Bloch congenital myopathy Bainbridge-Ropers syndrome Baird syndrome Baker-Gordon syndrome Bakrania-Ragge syndrome Balanced complete atrioventricular canal Balanced partial atrioventricular canal Balantidiasis Balint syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth-Lazarus syndrome Band-like calcification with simplified gyration and polymicrogyria Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Baralle-Macken syndrome Barber-Say syndrome Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome type 2 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome type 5 Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Bartsocas-Papas syndrome Bartter Syndrome Bartter syndrome type 1 Bartter syndrome type 2 Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome with sensorineural hearing loss Basal Cell Carcinoma Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan-Baird syndrome Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Smirin-Yosef syndrome BASIL syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Baughman syndrome Bazex-Dupré-Christol syndrome BCAS3-related neurodevelopmental disorder BCL11B-related neurodevelopmental disorder BCR-ABL1-like B-ALL Beaulieu-Boycott-Innes syndrome Beck-Fahrner syndrome Becker dystrophinopathy Beckwith - Wiedemann Syndrome Bedouin spastic ataxia syndrome Behavioral variant frontotemporal dementia Behcets Syndrome Bell's Palsy Bellini carcinoma Bellini duct carcinoma Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonus epilepsy Benign atrophic papulosis Benign cephalic histiocytosis Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus Benign congenital sixth cranial nerve palsy Benign familial chorea Benign familial infantile epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign hyperferritinemia Benign intracranial hypertension Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign nocturnal alternating hemiplegia of childhood Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 (BRIC2) Bennion-Patterson syndrome Benson syndrome Bent bone dysplasia BENTA disease Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Bernard-Soulier syndrome Berti lymphoma Berylliosis Best macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycan-related limb-girdle muscular dystrophy Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Beta2-microglobulinic amyloidosis Bethlem muscular dystrophy Beukes familial hip dysplasia BH4-responsive phenylketonuria BH4-unresponsive phenylketonuria BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bicervical bicornuate uterus Bickers-Adams syndrome Bickerstaff brainstem encephalitis Biemond syndrome Bietti crystalline dystrophy Bifid femur-monodactylous ectrodactyly syndrome Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria Bilateral striopallidodentate calcinosis Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Biliary Cirrhosis Biliary cystadenocarcinoma Biliary hamartoma Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-induced neurological dysfunction Binder syndrome Biochemical variant galactosemia Biotin-responsive basal ganglia disease Biparietal Alzheimer disease Bipartite talus Bipolar Disorder Birdshot chorioretinopathy Birk-Barel syndrome Bitemporal aplasia cutis congenita Björnstad syndrome Bladder Carcinoma - Squamous Cell Bladder pain syndrome Blake pouch cyst Blakemore-Durmaz-Vasileiou syndrome Blastic plasmacytoid dendritic cell neoplasm Blau syndrome Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to CalDAG-GEFI deficiency Bleeding disorder due to P2Y12 defect Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosis epicanthus inversus syndrome plus (BPES plus) Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-telecanthus-microstomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Blood Vessel Rupture Blount disease Blue colour blindness Blue cone monochromacy Blue diaper syndrome Blue rubber bleb nevus Bockenheimer syndrome Body cavity-based lymphoma Body integrity dysphoria Body integrity identity disorder Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body stalk anomaly Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia-medullary fibrosarcoma syndrome Bone filaminopathy Bone fragility-contractures-arterial rupture-hearing loss syndrome Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Bone marrow failure-diabetes mellitus syndrome Bone necrosis Bone necrosis of genetic origin Bone sarcoma Bonneau syndrome Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borderline vascular neoplasm Borderline vascular tumor Borna virus encephalitis Bornholm eye disease Borrmann gastric cancer type 4 Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Boucher-Neuhäuser syndrome Bowel Obstruction Bowel Rupture Bowen-Conradi syndrome Boyadjiev-Jabs syndrome BPES type 1 BPES type 2 BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Brachial plexus neuritis Brachmann-de Lange syndrome Brachmann-de Lange syndrome type 1 Brachmann-de Lange syndrome type 2 Brachmann-de Lange syndrome type 3 Brachmann-de Lange syndrome type 4 Brachmann-de Lange syndrome type 5 Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B1 Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly, Farabee type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia intellectual disability-heart defects syndrome Brachydactyly-nystagmus cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Bradykinin-induced angioedema Bradyopsia Brailsford disease Brain abnormalities neurodegeneration-dysosteosclerosis disease Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain Abscess Brain Agenesis Brain arteriovenous malformation, nidus type Brain calcification, Rajab type Brain cortical dysplasia Brain dopamine-serotonin vesicular transport disease Brain inflammatory disease Brain malformation due to abnormal neuronal migration Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain Stem Syndrome Brain-lung-thyroid syndrome Branch pulmonary artery stenosis Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial arch or oral-acral syndrome Branchial arch syndrome Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiogenic hearing loss syndrome Branchiootic syndrome Branchiootorenal spectrum disorder Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever Brazilian pemphigus BRE syndrome Breast implant-associated ALCL Breast implant-associated anaplastic large cell lymphoma BRESEK syndrome Bresheck syndrome BRIC BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle cornea syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Brock s Syndrome Brodie abscess Brodie myopathy Brody myopathy Bronchial malformation Bronchial NET Bronchial neuroendocrine tumor Bronchial Obstruction Bronchiectasis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia syndrome Bronchiolitis obliterans syndrome Bronchitis Bronchoesophageal Fistula Bronchogenic carcinoma Bronchopneumonia Bronchopulmonary sequestration Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Sequard's Syndrome BRPF1-related neurodevelopmental disorder Brucella melitensis infection Brucella suis infection Bruck syndrome Brugada Syndrome Brugada syndrome type 1 Brugada syndrome type 2 Brugada syndrome type 3 Brunner syndrome Brunner syndrome type 1 Brunner syndrome type 2 Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Bruton agammaglobulinemia BSEP deficiency Buckley syndrome Budd-Chiari Syndrome Budd-Chiari-like syndrome Buerger-like disease Bulbar Paralysis Bulbospinal muscular atrophy Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous dermolysis of the newborn Bullous diffuse cutaneous mastocytosis Bullous impetigo Bullous lichen planus Bullous pyoderma gangrenosum Bullous systemic lupus erythematosus Buphthalmia Buphthalmos Buphthalmus Burkholderia mallei infection Burkholderia pseudomallei infection Burkitt s Lymphoma Burkitt-like lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff-like syndrome Butterfly vertebrae syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome BWS due to imprinting defect of 11p15 BWS due to paternal uniparental disomy of chromosome 11 Byler disease Byler-like disease Böök syndrome Cancer - Oesophagus Caplan's Syndrome Carcinoma Cardiac Amyloidosis Cardiac Failure Cardiomyopathy Cardiovascular Disease Carnitine palmitoyltransferase I deficiency Carpal Tunnel Syndrome Central Core Disease Cerebral Atrophy Cerebral Haemorrhage Cerebral Infarction Cerebral Palsy Cerebral Vein Thrombosis Cerebritis Cerebrovascular Accident Cervical Lymphadenitis CHARGE Syndrome Cholecystitis Choledochal Cyst Cholestasis Chronic Hepatitis Chronic Myelomonocytic Leukaemia (CMML) Chronic traumatic encephalopathy (Boxer's dementia) Cirrhosis Cleft Lip Cleft Palate CNS - Demyelinating Lesions CNS Haemangioblastoma CNS Parenchymal Disease Coagulopathy Coeliac Disease Colitis Collagen-vascular Diseases Colon - Amoeboma Colon - Obstruction Colon - Perforation Colon - Stricture Colon - Toxic Dilatation Colon - Volvulus Colorectal Cancer Common Bile Duct Obstruction Congenital contractural arachnodactyly (Beals syndrome) Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome type 1, BSCL type 1) Congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome type 2, BSCL type 2) Congenital generalized lipodystrophy type 3 (Berardinelli-Seip syndrome type 3, BSCL type 3) Congenital generalized lipodystrophy type 4, BSCL type 4 Congenital Heart Defect Congenital lipoid adrenal hyperplasia due to STAR deficiency Congestive Cardiac Failure COPD Cor Pulmonale Cord Compression Crohn Disease Crouzon Syndrome CRST Syndrome Cushing's Syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cyclocephaly Cystic Fibrosis Cystic transformation of pancreatic acini D+ HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria Da Silva syndrome DA1 DA10 DA2B DA5D Dabska tumor Dacryocele Dacryocystocele DADA2 Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy - Walker Syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Daneman-Davy-Mancer syndrome Danon disease Dapsone hypersensitivity syndrome Dapsone-induced hemolytic anemia Darbepoetin alfa-induced pure red cell aplasia Darcy disease Darier-like disease Dark skin susceptibility to melanoma Darmstadt syndrome DARS2-related leukoencephalopathy Dasyprocta syndrome Datura poisoning Davis syndrome Dawson disease Day blindness Day blindness with myopia Day blindness, congenital stationary Day blindness, Oguchi type Day blindness, progressive Day blindness, stationary DBA DBS syndrome DCAF17-related syndrome DCHS1-related mitral valve prolapse syndrome DCLRE1C deficiency DCP2-related neurodevelopmental disorder De Barsy syndrome De Grouchy syndrome De Grouchy syndrome type 1 De Grouchy syndrome type 2 De Lange syndrome De Morsier syndrome De Quervain thyroiditis De Sanctis syndrome De Sanctis-Cacchione syndrome Deafness dystonia syndrome Deafness-encephalopathy-fatty liver syndrome Deafness-infertility syndrome Deafness-myopathy syndrome Deafness-nephropathy syndrome Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome Deafness-renal anomalies syndrome Deafness-renal-genital syndrome Deafness-retinitis pigmentosa syndrome Deafness-short stature-facial dysmorphism syndrome Deafness-skeletal anomalies syndrome Deafness-vision impairment syndrome Death cap mushroom poisoning DeBarsy syndrome Decubitus ulcers Dejerine-Roussy syndrome Dejerine-Sottas disease Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p21.3) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(10)(p11.21p12.31) Del(10)(p13p14) Del(10)(p15.3) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q22q23) Del(14)(q32) Del(15)(q11q13) Del(15)(q13.3) Del(15)(q24) Del(15)(q26) Del(16)(p11.2) Del(16)(p13.3) Del(16)(q22) Del(17)(p11.2) Del(17)(p12) Del(17)(p13.3) Del(17)(q12) Del(17)(q21.31) Del(18)(p11.2) Del(18)(q12.2) Del(18)(q21) Del(18)(q23) Del(19)(p13.3) Del(19)(q13.11) Del(2)(p11.2) Del(2)(p16.1) Del(2)(p21) Del(2)(p25) Del(2)(q13) Del(2)(q21q23) Del(2)(q31) Del(2)(q32) Del(2)(q33.1) Del(2)(q37) Del(20)(p12.3) Del(20)(q11.2) Del(20)(q13.11) Del(21)(q21) Del(21)(q22.11) Del(21)(q22.13) Del(21)(q22.2) Del(22)(q11.2) Del(22)(q13) Del(3)(p13) Del(3)(p14) Del(3)(p21.31) Del(3)(p25) Del(3)(q13.31) Del(3)(q21q22) Del(3)(q25) Del(3)(q29) Del(4)(p14) Del(4)(p16) Del(5)(q22) syndrome Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25.2q25.3) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)(q24.3) Del(8)q(13) Del(9)(p13) Del(9)(q21.3) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(X)(p21) Del(X)(p23) Del(X)(q21) Delayed encephalopathy due to carbon monoxide poisoning Delayed membranous cranial ossification Delayed sleep phase syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delleman-Oorthuys syndrome Delpire-McNeill syndrome Delta granule disease Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-aminolevulinic acid dehydratase deficiency porphyria Delta-storage pool disease Demyelinating Charcot-Marie-Tooth disease Demyelinating neuropathy-central dysmyelination-Waardenburg syndrome Demyelinating polyneuropathy with deafness and cranial nerve involvement Demyelinating sensorimotor neuropathy Demyelination with brain stem and spinal cord involvement and lactate elevation Dengue Haemorrhagic Fever - DHF Dengue hemorrhagic fever Dengue Shock Syndrome - DSS Dens invaginatus Dense deposit disease Dentatorubral-pallidoluysian atrophy Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta Denture stomatitis Denys-Drash syndrome Deoxyguanosine kinase deficiency Deoxyribose phosphate aldolase deficiency Depersonalization-derealization disorder Deprenyl-associated psychosis Depression with psychotic features Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(22)t(11;22) syndrome Der(8)t(8;12) Dercum disease Dermal hypoplasia focal Dermal sinus tract Dermatillomania Dermatitis granulomatous interstitial Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermatostomatitis, Stevens Johnson type Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermoid or epidermoid cyst of the central nervous system Dermolytic epidermolysis bullosa Dermoodontodysplasia Dermotrichic syndrome DES embryofetopathy DES syndrome Desanto-Shinawi syndrome Desbuquois dysplasia DESC syndrome Desert fever Desert rheumatism Desmin-related myopathy Desmoid tumor Desmoplastic infantile astrocytoma Desmoplastic melanoma Desmoplastic small round cell tumor Desmosterolosis Desquamative interstitial pneumonia Developmental and epileptic encephalopathy due to GRIN1 mutation Developmental and epileptic encephalopathy due to SCN1A mutation Developmental and epileptic encephalopathy due to STXBP1 mutation Developmental delay with hypotonia and facial dysmorphism Developmental delay with microcephaly and seizures Developmental dysplasia of the hip Developmental encephalopathy with epilepsy Developmental regression-intellectual disability syndrome Dextrocardia with situs inversus Dextroposition of the heart Dextrotransposition of the great arteries Diabetes insipidus Diabetes Insipidus Diabetes insipidus, central Diabetes insipidus, nephrogenic Diabetes Mellitus Diabetes mellitus due to insulin receptor deficiency Diabetes mellitus due to mitochondrial DNA mutation Diabetes mellitus due to pancreatic agenesis Diabetes mellitus, permanent neonatal Diabetic Ketoacidosis Dialysis-related amyloidosis Dialysis-related arthropathy Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic or abdominal wall malformation Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Dias-Logan syndrome Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diastrophic dysplasia variant Diastrophic dysplasia-limb shortening syndrome Diastrophic dysplasia-micrognathia syndrome Diastrophic dysplasia-vertebral anomalies syndrome Diastrophic-like dysplasia Diastrophic-like dysplasia with joint contractures Diastrophic-like dysplasia with vertebral anomalies Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Dicarboxylic aminoaciduria DICER1 tumor-predisposition syndrome Didelphys uterus DIDMOAD syndrome DIDOD Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Dietary iron overload disease Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Diets-Jongmans syndrome Difference of sex development Difference of sex development of gynecological interest Difference of sex development-intellectual disability syndrome Diffuse alveolar hemorrhage Diffuse capillary malformation with overgrowth Diffuse cutaneous mastocytosis Diffuse dermal angiomatosis Diffuse esophageal leiomyomatosis Diffuse gastric cancer, hereditary Diffuse idiopathic skeletal hyperostosis Diffuse infantile hepatic hemangioma Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the CNS Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse panbronchiolitis Diffuse pulmonary lymphangiomatosis Diffuse scleroderma Diffuse systemic sclerosis Diffuse Unilateral Subacute Neuroretinitis Diffuse vascular malformation syndrome Diffuse white matter abnormality with spasticity and dementia Diffuse white matter disease with axonal spheroids Diffuse-type tenosynovial giant cell tumor Digital clubbing Digital fibromatosis, infantile Digital ulcers in systemic sclerosis Dihydropteridine reductase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DILE DiMauro disease Dimethylglycine dehydrogenase deficiency Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphyllobothriasis Diplomyelia Diplophthalmia Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Discoid lupus erythematosus Discoid lupus erythematosus, familial Discoid meniscus Disconnection syndrome Discontinuous splenogonadal fusion Discrepant atrioventricular connections Diseminated superficial actinic porokeratosis Dishevelled hair syndrome Disinhibition-dementia-parkinsonism-amyotrophy complex Dislocation of the patella, congenital Disorders of biopterin metabolism Disorders of cobalamin metabolism Disorders of creatine metabolism Disorders of fructose metabolism Disorders of galactose metabolism Disorders of glycine metabolism Disorders of lysine metabolism Disorders of mitochondrial DNA maintenance Disorders of proline metabolism Disorders of serine metabolism Disorders of sulfur metabolism Disorders of tetrahydrobiopterin metabolism Disorders of tyrosine metabolism Disorders of valine metabolism Disseminated actinic granuloma Disseminated adenovirus infection Disseminated Intravascular Coagulation Disseminated peritoneal leiomyomatosis Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal anoctaminopathy Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 10p syndrome Distal deletion 10q syndrome Distal deletion 12p syndrome Distal deletion 12q syndrome Distal deletion 13q syndrome Distal deletion 14q syndrome Distal deletion 15q syndrome Distal deletion 17q syndrome Distal deletion 19p syndrome Distal deletion 1q syndrome Distal deletion 3p syndrome Distal deletion 4p Distal deletion 4q syndrome Distal deletion 6p syndrome Distal deletion 6p25 Distal deletion 7p syndrome Distal deletion 7q36 Distal deletion 9p syndrome Distal dup(22)(q11.2) Distal dup(7)(q11.23) Distal dup(X)q(28) Distal duplication 10q syndrome Distal duplication 11q syndrome Distal duplication 13q syndrome Distal duplication 14q syndrome Distal duplication 15q syndrome Distal duplication 16p Distal duplication 16q syndrome Distal duplication 17q syndrome Distal duplication 18q syndrome Distal duplication 19q syndrome Distal duplication 1p36 syndrome Distal duplication 20q syndrome Distal duplication 22q syndrome Distal duplication 2p syndrome Distal duplication 2q syndrome Distal duplication 3p syndrome Distal duplication 4p syndrome Distal duplication 4q syndrome Distal duplication 5q syndrome Distal duplication 6p syndrome Distal duplication 6q syndrome Distal duplication 7p syndrome Distal duplication 8p syndrome Distal duplication 8q syndrome Distal duplication 9p syndrome Distal duplication 9q syndrome Distal hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 Distal hereditary motor neuropathy type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal Intestinal Obstruction Syndrome Distal myopathy Distal myopathy type 1 Distal myopathy type 2 Distal myopathy type 3 Distal myopathy type 4 Distal myopathy type 5 Distal trisomy 22q11.2 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy Xq28 Distal-HMN type 6 Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK phocomelia syndrome DK1-CDG DKC DLBCL of the CNS DLG3-related intellectual disability DLX5-related split hand-foot malformation DM1 DM2 DMDD DMGDH deficiency DMPK-related myotonic dystrophy DNA repair disorder with growth deficiency (Bloom syndrome) DNM2-related centronuclear myopathy DNMT3A overgrowth syndrome DNMT3A-related intellectual disability syndrome DOCK2 deficiency DOCK8 deficiency Dolichocephaly Dolichol kinase deficiency Dolichyl-phosphate-mannose synthase 1 deficiency Dolichyl-phosphate-mannose synthase 2 deficiency Dolichyl-phosphate-mannose synthase 3 deficiency Dolichyl-phosphate-mannose synthase deficiency Dolichyl-phosphate-mannose synthase deficiency-dystroglycanopathy syndrome Dolly syndrome Dominant beta-thalassemia Dominant drusen Dominant dystrophic epidermolysis bullosa Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant optic atrophy Dominant optic atrophy plus syndrome Dominant optic atrophy with cataract Dominant optic atrophy with deafness Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome DONSON-related microcephaly-short stature-limb abnormalities spectrum DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dopamine transporter deficiency syndrome Dorfman-Chanarin syndrome Dorsal spinal cord lipoma Double A syndrome Double discordance Double inlet atrioventricular connection Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Down syndrome due to mosaic trisomy 21 Down syndrome due to translocation Down syndrome with acute lymphoblastic leukemia Down syndrome with acute myeloid leukemia Down syndrome with transient myeloproliferative disorder Dravet syndrome Dreifuss muscular dystrophy Drepanocytosis DRESS syndrome Drinking water-associated arsenic toxicity Drooling-choreoathetosis syndrome Drop attacks DRPLA Drug reaction with eosinophilia and systemic symptoms Drug-induced agranulocytosis Drug-induced aseptic meningitis Drug-induced autoimmune hemolytic anemia Drug-induced autoimmune thrombocytopenia Drug-induced cholestasis Drug-induced eosinophilia Drug-induced hypersensitivity syndrome Drug-induced immune thrombocytopenia Drug-induced interstitial lung disease Drug-induced lupus erythematosus Drug-induced myopathy Drug-induced pancreatitis Drug-induced parkinsonism Drug-induced photosensitivity Drug-induced pneumonitis Drug-induced pruritus Drug-induced QT prolongation Drug-induced thrombocytopenia Drug-induced vasculitis Dry eye syndrome, severe congenital Dry scalp syndrome Dubowitz syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy with cardiomyopathy Duchenne muscular dystrophy, female carrier Ductal plate malformation Duodenal duplication Duodenal obstruction Dysostosis Multiplex Eales disease Ear Infections Ear-patella-short stature syndrome Early infantile developmental and epileptic encephalopathy Early onset familial encephalopathy with neuroserpin inclusion bodies Early onset non-syndromic cataract Early onset progressive leukoencephalopathy central nervous system calcification hearing loss visual impairment syndrome Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Early-onset autosomal recessive TTN-related distal myopathy Early-onset benign childhood occipital epilepsy Early-onset calcifying leukoencephalopathy skeletal dysplasia Early-onset cerebellar ataxia with retained tendon reflexes Early-onset citrullinemia type 1 Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy intellectual disability brain anomalies syndrome Early-onset familial hyperreninemic hypoaldosteronism Early-onset generalized torsion dystonia Early-onset idiopathic chronic pancreatitis Early-onset Lafora body disease Early-onset obesity-hyperphagia severe developmental delay syndrome Early-onset Parkinson disease Early-onset parkinsonism intellectual disability syndrome Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindness-ataxia spasticity syndrome Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to AP3D1 deficiency Early-onset severe retinal dystrophy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome East Texas bleeding disorder Eastman-Bixler syndrome Eating reflex epilepsy EBV-associated gastric carcinoma EBV-associated lymphoproliferative disorder EBV-associated mesenchymal tumor EBV-induced lymphoproliferative disease due to CARMIL2 deficiency EBV-induced lymphoproliferative disease due to CD70 deficiency EBV-induced lymphoproliferative disease due to CTPS1 deficiency EBV-induced lymphoproliferative disease due to PRKCD deficiency EBV-induced lymphoproliferative disease due to RASGRP1 deficiency EBV-positive diffuse large B-cell lymphoma Eccrine angiomatous hamartoma Ectasia of the left atrial appendage Ectasia of the right atrial appendage Ectasic coloboma Ectodermal dysplasia Ectodermal dysplasia Berlin type Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth Ectodermal dysplasia with natal teeth Turnpenny type Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic neurohypophysis Eczema Encephalitis - Diffuse Encephalitis - Focal Encephalomyelitis Encephalopathy Endocarditis Endometrial Neuroendocrine Tumour Endophthalmitis Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy Enteropathy-associated T-cell lymphoma Enthesitis-related juvenile idiopathic arthritis Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic cystitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granulomatosis with polyangiitis Ependymoma EPHB4-related capillary malformation-arteriovenous malformation EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis Epiblepharon Epibronchial right pulmonary vein syndrome Epicardial coronary artery fibromuscular dysplasia Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermal nevus syndrome (Becker nevus syndrome) Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with nephropathy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic palmoplantar keratoderma Epididymo-Orchitis Epignathus Epilepsia partialis continua Epilepsy Epilepsy of infancy with migrating focal seizures Epilepsy with auditory features Epilepsy with eyelid myoclonia Epilepsy with generalized tonicclonic seizures alone Epilepsy with myoclonic absences Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with spike-and-wave activation in sleep Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelial tumor of anal canal Epithelial tumor of the appendix Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature Equinia Erdheim-Chester disease ERF-related syndromic craniosynostosis Erosive pustular dermatosis of the scalp Erysipelas Erythema elevatum diutinum Erythema multiforme major Erythema palmare hereditarium Erythematous Candida Erythrocyte GALE deficiency Erythrocyte lactate transporter defect Erythrodermic ichthyosis Erythrokeratoderma variabilis progressiva Erythrokeratoderma with ataxia Erythrokeratodermia-cardiomyopathy syndrome Erythroleukemia Escher-Hirt syndrome Escobar syndrome Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction Esophageal atresia with or without trachea-esophageal fistula Esophageal squamous cell carcinoma Essential mixed cryoglobulinemia Estrogen resistance syndrome Ethylene glycol poisoning Ethylmalonic encephalopathy Euhidrotic ectodermal dysplasia Euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dystransthyretinemic hyperthyroxinemia Euthyroid Graves orbitopathy EVEN-plus syndrome Excess breast volume or number Excretory apparatus of the lacrimal system anomaly Exencephaly Exercise intolerance with lactic acidosis Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermia-brachydactyly type E syndrome Exposure-related interstitial lung disease Exstrophy-epispadias complex Extensive venous malformation External auditory canal aplasia/hypoplasia Extra-adrenal aldosterone-producing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germ cell tumor Extragonadal germinoma Extragonadal non-dysgerminomatous germ cell tumor Extragonadal teratoma Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraskeletal myxoid chondrosarcoma Extrathoracic heart Extraventricular neurocytoma Extremity fibromuscular dysplasia Extrinsic Allergic Alveolitis Eye-brow duplication-syndactyly syndrome EZH2-related overgrowth syndrome F syndrome F12-related hereditary angioedema with normal C1 inhibitor FACES syndrome Facial cleft Facial dermoid cyst Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism hypertrichosis-epilepsy-intellectual disability-developmental delay-gingival overgrowth syndrome Facial dysmorphism macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-anorexia cachexia-eye and skin anomalies syndrome Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy Facial dysmorphism-global developmental delay-hypotoniapolymicrogyria syndrome Facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities spontaneous filtering blebs syndrome Facial dysmorphism-ocular anomalies-osteopenia-intellectual disabilitydental anomalies syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial granuloma of Lever Facial hemispasm Facial infiltrating lipomatosis Facial nerve palsy due to varicella zoster virus Facial neuralgia Facial onset sensory and motor neuronopathy Facio-audio-symphalangism syndrome Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary dissociation Facio-pharyngo-glosso-masticatory diplegia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Factor IX deficiency, Leyden type Factor V Amsterdam bleeding disorder Factor V and Factor VIII combined deficiency Factor V Atlanta bleeding disorder Factor V East Texas bleeding disorder Factor V Quebec Factor V short isoforms-related bleeding disorder FADD-related immunodeficiency FAH deficiency FAHN Fallot complex-intellectual disability-growth delay syndrome Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adrenal hypoplasia Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type IV Familial Amyloid Syndromes Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial APOA5 deficiency Familial apoC-II deficiency Familial apolipoprotein A-V deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial articular hypermobility syndrome Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial breast cancer Familial breast carcinoma Familial calcium pyrophosphate deposition disease Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CD8 deficiency Familial cerebral amyloid angiopathy Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial chilblain lupus Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold autoinflammatory syndrome type 4 Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer type X Familial congenital contralateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial continuous skin peeling syndrome Familial cortical myoclonic tremor and epilepsy Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cylindromatosis Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dyslipidemia type 3 Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial gigantiform cementoma Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type 4 Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinsulinemic hypoglycemia Familial hyperinsulinism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperphosphatemic tumoral calcinosis Familial hyperprolactinemia Familial hyperthyroidism due to TSH receptor mutation Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial idiopathic steroidresistant nephrotic syndrome Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation Familial intestinal polyposis Familial intracranial saccular aneurysm Familial intrahepatic cholestasis Familial intraosseous vascular malformation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form Familial isolated arrhythmogenic ventricular dysplasia, right-dominant form Familial isolated café-au-lait macules Familial isolated café-au-lait spots Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated retinal arteriolar tortuosity Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial macular edema Familial median cleft of the upper and lower lips Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy Familial mitral valve prolapse Familial monosomy 7 syndrome Familial multinodular goiter Familial multiple cutaneous leiomyomas Familial multiple discoid fibromas Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichodiscomas Familial multiple trichoepithelioma Familial nasal acilia Familial non-immune hyperthyroidism Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial nonmedullary thyroid carcinoma Familial nonpolyposis colorectal cancer Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteonecrosis of femoral head Familial pancreatic cancer Familial papillary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial partial epilepsy Familial partial epilepsy with variable foci Familial partial lipodystrophy Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial pelvis-scapular dysplasia Familial peripheral male-limited precocious puberty Familial pheochromocytomaparaganglioma Familial platelet disorder with associated myeloid malignancy Familial platelet disorder with predisposition to acute myeloid leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial porencephaly Familial porphyria cutanea tarda Familial primary hyperparathyroidism Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma Familial prion disease Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive subcortical gliosis Familial prostate cancer Familial pseudohyperkalemia Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain syndrome Familial recurrent arthritis Familial recurrent Bell palsy Familial renal amyloidosis Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial renal hypouricemia Familial retinal arterial macroaneurysm Familial scaphocephaly syndrome Familial scaphocephaly-radioulnar synostosis syndrome Familial schizencephaly Familial spastic paraplegia Familial spontaneous pneumothorax Familial startle disease Familial syringomyelia Familial systemic lupus erythematosus Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and dissection Familial thrombocythemia Familial thrombocytosis Familial thyroglossal duct cyst Familial transthyretin-related amyloidosis Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial woolly hair syndrome Fanconi Syndrome Fanconi-Bickel syndrome FAR1 deficiency Fara-Chlupackova syndrome Fara-Chlupackova syndrome type 1 Fara-Chlupackova syndrome type 2 Farber disease Fasciolopsiasis Fast-channel congenital myasthenic syndrome Fast-flow vascular malformation FASTKD2-related infantile mitochondrial encephalomyopathy Fatal Familial Insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile hypertonic myofibrillar myopathy Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal pontocerebellar hypoplasiahypotonia-respiratory insufficiency syndrome Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation disorder with cardiomyopathy Fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 superactivity Faulk-Epstein-Jones syndrome Favism FBLN1-related developmental delay-central nervous system anomalysyndactyly syndrome FBPase deficiency Febrile infection-related epilepsy syndrome Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Felty's Syndrome Female adnexal tumor of probable Wolffian origin Female infertility due to implantation defect of genetic origin Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome Femur-fibula-ulna complex Femur-fibula-ulna syndrome Fenestrae parietales symmetricae Fenton-Wilkinson-Toselano syndrome Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acetylcholine receptor antibody-related disorder Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal Alcohol Syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal anticonvulsant syndrome Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal Death Fetal Distress in Labour Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal iodine syndrome Fetal lower urinary tract obstruction Fetal lung interstitial tumor Fetal methylmercury poisoning Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fetal valproate syndrome Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathy Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children Fibro-adipose vascular anomaly Fibroblastic rheumatism Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrolamellar hepatocellular carcinoma Fibrolipomatous filum terminale anomaly Fibroma-like epithelioid sarcoma Fibromuscular dysplasia Fibromuscular dysplasia of cervical and intracranial arteries Fibromuscular dysplasia of renal arteries Fibromuscular dysplasia of the arteries of the extremities Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing Alveolitis Fibrosing mediastinitis Fibrotic hypersensitivity pneumonitis Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Filamin A-related X-linked myxomatous valvular dysplasia Filamin C-related myofibrillar myopathy Filamin-related bone disorder Filariasis Filippi syndrome FILS syndrome FINCA syndrome Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hidradenoma Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed drug eruption Fixed subaortic stenosis FKBP14-related Ehlers-Danlos syndrome FKRP-related limb-girdle muscular dystrophy FKTN-related congenital muscular dystrophy Fleck corneal dystrophy Flegel disease FLNA-related valvular dystrophy FLNC-related distal myopathy Floating-Harbor syndrome Floppy Valve Syndrome Florid cemento-osseous dysplasia Flow limitation in the iliac artery Fluctuating myotonia Flynn-Aird syndrome Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal facial dermal dysplasia Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type 2 Focal facial dermal dysplasia type 3 Focal facial dermal dysplasia type 4 Focal intestinal perforation Focal myositis Focal nodular myositis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Focal segmental glomerulosclerosis (FSGS) Focal stiff-person syndrome Fogo selvagem Foix-Chavany-Marie syndrome Folate Deficiency Folate receptor alpha deficiency Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Folliculotropic mycosis fungoides Fontaine progeroid syndrome Fontan-associated liver disease Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome FOSL2-related neurodevelopmental disorder FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler urethral sphincter dysfunction syndrome Fowler vasculopathy Fowler-Christmas-Chapple syndrome FOXG1 syndrome FOXG1 syndrome due to 14q12 microdeletion FOXG1 syndrome due to intragenic alteration FOXG1-related epileptic-dyskinetic encephalopathy FOXP1 syndrome FOXP2-associated speech and language disorder Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor-ataxia syndrome Fragile X-associated tremor/ataxia syndrome Fragoso-Cantú syndrome Franceschetti Oculodigital Sign Franceschetti-Klein syndrome François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Frank-Ter Haar syndrome Fraser syndrome Frasier syndrome FRAXE intellectual disability Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Burian syndrome Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freiberg disease Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frey syndrome Fried syndrome Fried tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia type 1 Frontonasal dysplasia type 2 Frontonasal dysplasia type 3 Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopeciagenital anomalies syndrome Frontonasal dysplasia-bifid noseupper limb anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Fructose-1,6-diphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly syndrome Fryns microphthalmia syndrome Fryns-Hofkens-Fabry syndrome Fucosidosis type I and II Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuhara syndrome Fukutin-related limb-girdle muscular dystrophy Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarylacetoacetase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblE Functioning gonadotropic adenoma Functioning pancreatic neuroendocrine tumor Functioning pituitary adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal keratitis Fungal myositis Furukawa-Takagi-Nakao syndrome Furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Dermatobia hominis Fusariosis Fused mandibular incisors Fusion of metacarpals 4 and 5 Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI Gerstmann-Sträussler-Scheinker disease GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gonadal Dysgenesis Gout Guillain Barre Syndrome Gyrate Atrophy H syndrome H syndrome-like disorder H-ABC H-type tracheoesophageal fistula H1-4-related neurodevelopmental disorder HA20-related monogenic Behcet-like disease Haberland syndrome Haddad syndrome Hadziselimovic syndrome Haemochromatosis Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Haemoglobin E disease Haemoglobin H Disease Haemoglobin H-Constant Spring disease Haemoglobin Lepore syndrome Haemoglobin M-Hyde Park disease Haemoglobin S/D Punjab disease Haemoglobin S/O-Arab disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Haemorrhagic septicemia due to Capnocytophaga canimorsus HAFOUS HAFOUS due to USP7 mutation Hailey-Hailey disease Haim-Munk syndrome Hair-nail ectodermal dysplasia Hairy Cell Leukaemia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome HaNDL syndrome Hanhart syndrome Hanot syndrome Hantavirosis Hantavirus pulmonary syndrome Hao-Fountain syndrome HAPE Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome Hard flaccid syndrome Hardikar syndrome Harding disease Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disorder Hartnup syndrome with pellagra-like rash Hashimoto encephalopathy Hashimoto thyroiditis with encephalopathy Hashimoto-Pritzker syndrome Haspeslagh syndrome Haspeslagh-Fryns-Muelenaere syndrome HbS-Lepore disease HbS-O Arab disease HbS-other specified hemoglobin variant disease HbSD disease HbSE disease HBSL HCD HCDD HCFC1-related disorder HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HD-HA syndrome HDFN HDL1 HDL2 HDL3 HDLS HDR syndrome HDV Head and neck neuroendocrine carcinoma Head and neck paraganglioma Head and neck squamous cell carcinoma, rare hereditary form Headache syndrome due to glycine receptor autoimmunity Healing palmoplantar keratoderma Hearing impairment-cataract-retinal degeneration syndrome Hearing impairment-early graying syndrome Hearing impairment-intellectual disability syndrome Hearing impairment-macular degeneration syndrome Hearing impairment-retinitis pigmentosa syndrome Hearing impairment-thrombocytopenia syndrome Hearing loss with labyrinthine aplasia, microtia, and microdontia Hearing loss-amelogenesis imperfecta syndrome Hearing loss-cardiomyopathy syndrome Hearing loss-cataract syndrome Hearing loss-craniofacial syndrome Hearing loss-epilepsy syndrome Hearing loss-familial salivary gland insensitivity syndrome Hearing loss-hyperopia-clinodactyly syndrome Hearing loss-intellectual disability syndrome, Mariner type Hearing loss-myopia-intellectual disability syndrome Hearing loss-nephritis syndrome Hearing loss-onychodystrophy syndrome Hearing loss-renal disease syndrome Hearing loss-short stature syndrome Hearing loss-vertebral anomalies syndrome Hecht syndrome Hecht-Beals syndrome Heerfordt syndrome Heimler syndrome Heinz body anemia Helicobacter pylori infection Helicobacter pylori-associated gastric carcinoma Heller myopathy HELLP syndrome Helmholtz syndrome Helminthiasis, rare forms Hemangioblastoma Hemangioma, capillary Hemangioma, cavernous Hemangioma, infantile Hemangiomatosis, diffuse neonatal Hemangiopericytoma Hemeralopia-congenital cataract syndrome Hemeralopia-myopia-color blindness-deafness syndrome Hemeralopia-recurrent respiratory infections syndrome Hemiballismus Hemicrania continua Hemifacial microsomia Hemifacial spasm Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly Hemimelic epiphyseal dysplasia Hemiparkinsonism-hemiatrophy syndrome Hemiplegia migraine, familial Hemispheric cerebral agenesis-hypoplasia syndrome Hemochromatosis (Bronze diabetes) Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin M disease Hemoglobin S-beta-thalassemia syndrome Hemoglobin SC disease Hemoglobinopathy due to unstable hemoglobin Hemoglobinopathy Toms River type Hemolytic uremic syndrome with complement factor H deficiency Hemolytic uremic syndrome with complement factor I deficiency Hemolytic uremic syndrome with membrane cofactor protein deficiency Hemolytic uremic syndrome, atypical Hemolytic uremic syndrome, typical Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, secondary Hemophilia C Hemorrhagic cystitis Hemorrhagic disease of the newborn Hemorrhagic shock and encephalopathy syndrome Hemorrhagic stroke due to cerebral amyloid angiopathy Hemorrhagic telangiectasia, cerebral form Hemorrhagic telangiectasia, cutaneous form Hemorrhagic telangiectasia, hepatic form Hemorrhagic telangiectasia, pulmonary form Henoch-Schonlein Purpura Henoch-Schonlein purpura nephritis HEPACAM-related megalencephalic leukoencephalopathy Hepatic adenoma, familial Hepatic epithelioid hemangioendothelioma Hepatic Failure Hepatic glycogen storage disease due to glycogen synthase deficiency Hepatic hemangioma Hepatic lipase deficiency Hepatic mesenchymal hamartoma Hepatic steatosis due to lipodystrophy Hepatic Vein Thrombosis Hepatic veno-occlusive disease with immunodeficiency Hepaticorectal fistula Hepatitis Hepatitis B virus-associated polyarteritis nodosa Hepatitis C virus-associated mixed cryoglobulinemia Hepatitis delta Hepatocele Hepatocellular Carcinoma Hepatocerebral form of mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Hepatocutaneous syndrome Hepatolenticular degeneration Hepatopulmonary syndrome Hepatorenal Failure Hephaestin-related iron transport disease Hereditary acral reticulate pigmentary disorder Hereditary acrokeratotic poikiloderma Hereditary amyloidosis, Finnish type Hereditary amyloidosis, transthyretin-related Hereditary congenital facial paresis Hereditary diffuse gastric cancer Hereditary fibrosing poikiloderma with tendon contractures Hereditary folate malabsorption Hereditary gingival fibromatosis Hereditary hyperekplexia Hereditary hyperferritinemia-cataract syndrome Hereditary inclusion body myopathy Hereditary isolated aplastic anemia Hereditary isolated MTC Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis and renal cell cancer Hereditary Lev-Lenègre disease Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy, Okinawa type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary nephrotic syndrome Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neurogenic diabetes insipidus Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary nonpolyposis colorectal cancer Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary optic neuropathy Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary papillary renal cell carcinoma Hereditary PCCD Hereditary periodic fever syndrome Hereditary periodic fever syndromes Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pituitary hyperplasia Hereditary poikiloderma Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary pseudocholinesterase deficiency Hereditary pseudohaemophilia Hereditary pulmonary alveolar proteinosis Hereditary pulmonary arterial hypertension Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to DNMT1 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with dementia and hearing loss Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary SI-NET Hereditary sick sinus syndrome Hereditary sodium channelopathy-related small fiber neuropathy Hereditary steroid-resistant nephrotic syndrome Hereditary stomatocytic disease Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelodysplasia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defects Hereditary transthyretin amyloid polyneuropathy Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary xerocytosis Heredopathia atactica polyneuritiformis Herlyn-Werner-Wunderlich syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes labialis Herpes simplex virus encephalitis Herpes simplex virus stromal keratitis Herpetiform pemphigus Hers disease Herva disease Heterozygous microdeletion 17p11.2p12 HEXA disorder, adult form HEXA disorder, infantile form HEXA disorder, juvenile form Hexosaminidase activator deficiency Heyn-Sproul-Jackson syndrome High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/or BCL2 and/or BCL6 rearrangements High myopia-sensorineural deafness syndrome Hilar cholangiocarcinoma Hippocampal memory defect leukoencephalopathy Hippocampal sclerosis-related mesial temporal lobe epilepsy Hirayama disease Hirschsprung disease and intellectual disability due to MED13L deficiency Hirschsprung disease and intellectual disability due to ZEB2 deficiency Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome His bundle tachycardia Histidinuria-renal tubular defect syndrome Histiocytic and dendritic cell tumor Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histiocytosis X HITT HIV-associated cancer HJMD HLHS HMC syndrome HMG-CoA lyase deficiency HMG-CoA synthase deficiency HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF1B-related nephropathy HNRNPA1-related adult-onset distal myopathy HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH2-related neurodevelopmental disorder HNRNPK-related neurodevelopmental disorder HNRNPR-related neurodevelopmental disorder HNRPH1-related neurodevelopmental disorder HO-1 deficiency Hobnail hemangioma HOD Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome Hoffmann syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Collins syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holohemispheric giant cerebral arteriovenous malformation Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocystinuria Homocystinuria due to CBS deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous 2p21 microdeletion syndrome Homozygous alpha0-thalassemia Homozygous beta-thalassemia Homozygous delta-beta thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia due to APOB deficiency Homozygous familial hypercholesterolemia due to LDLR deficiency Homozygous familial hypercholesterolemia due to PCSK9 deficiency Homozygous hemoglobin C disease Homozygous hemoglobin D disease Homozygous hemoglobin E disease Homozygous hemoglobin Lepore syndrome Homozygous hemoglobin O Arab disease Homozygous hemoglobin O-Arab disease Homozygous hemoglobin S disease Homozygous hypobetalipoproteinemia Homozygous protein C deficiency Homozygous protein S deficiency Homozygous variegate porphyria Honey-droplet corneal dystrophy Honeycomb corneal dystrophy HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horner Syndrome Hornstein-Knickenberg syndrome Hot water reflex epilepsy Houge-Janssens syndrome-1 Houlston-Ironton-Temple syndrome Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPDL-related Leigh-like encephalopathy HPRT complete deficiency HPRT deficiency HPRT partial deficiency HPS10 HPS2 HRD syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related cerebral small vessel disease Hughes-Stovin syndrome Human herpesvirus 8-related disorder Human herpesvirus-8-associated multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Human infection by orthopoxvirus Human prion disease Humerus trochlea aplasia Hunter-Jurenka-Thompson syndrome Hunter-McAlpine syndrome Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington disease phenocopy due to C9ORF72 expansion Huntington disease phenocopy syndrome Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huppke-Brendel syndrome HUPRA syndrome Huriez syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome Hyaline body myopathy Hyaline fibromatosis syndrome Hyaline membrane disease Hyaline ring granuloma Hyalinosis cutis et mucosae Hyaluronidase 2 deficiency Hyaluronidase deficiency Hybrid acute leukemia Hybrid peripheral nerve sheath tumor Hydatid disease Hydatidiform mole Hydatidiform mole, biparental recurrent form Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydranencephaly with abnormal genitalia Hydrargyria Hydroa vacciniforme Hydroa vacciniforme-like lymphoproliferative disorder Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Hydrocephalus with hop gait, abducens palsy and psychomotor retardation Hydrocephalus with obesity, hypogonadism, and retinal dystrophy Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue sclera-nephropathy syndrome Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-tall stature-joint laxity-kyphoscoliosis syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vascular anomaly Hydrolethalus syndrome 2 Hydrometrocolpos-polydactyly syndrome Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops Fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystem failure syndrome Hydroxyacyl-CoA dehydrogenase trifunctional protein deficiency Hydroxykynureninuria Hydroxymethylglutaric aciduria Hydroxymethylglutaryl-CoA lyase deficiency Hydroxysteroid dehydrogenase deficiency, isolated Hygroma colli Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome, autosomal recessive Hyper-IgM syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome type 6 Hyper-IgM syndrome type 7 Hyperalaninemia Hyperaldosteronism Hyperammonemia Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperargininemia due to arginase deficiency Hyperbilirubinemia due to Crigler-Najjar syndrome type 2 Hyperbilirubinemia due to Gilbert syndrome Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcaemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholanemia, familial Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HyperCKemia with myalgia HyperCKemia, idiopathic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercontractile muscle stiffness syndrome Hyperdibasic aminoaciduria Hyperekplexia with apnea Hyperekplexia, hereditary major form Hyperekplexia, hereditary minor form Hyperekplexia-epilepsy syndrome Hypereosinophilic obliterative bronchiolitis Hypereosinophilic syndrome with idiopathic eosinophilia Hyperexplexia due to glycine receptor deficiency Hyperferritinemia with cataract Hyperglycerolemia Hyperglycinuria Hyperglycinuria due to iminoglycinuria syndrome Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-hearing loss-ataxia syndrome Hypergonadotropic hypogonadism-retinitis pigmentosa syndrome Hypergonadotropic ovarian dysgenesis Hyperimidodipeptiduria Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycaemia Hyperinsulinism due to ABCC8 deficiency Hyperinsulinism due to AKT2 deficiency Hyperinsulinism due to CACNA1D deficiency Hyperinsulinism due to exercise-induced monocarboxylate transporter 1 expression Hyperinsulinism due to FOXA2 deficiency Hyperinsulinism due to GCK deficiency Hyperinsulinism due to GLUD1 deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HK1 deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to KCNJ11 deficiency Hyperinsulinism due to mitochondrial glutamate carrier deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to phosphoglucomutase 1 deficiency Hyperinsulinism due to PMM2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to TRMT10A deficiency Hyperinsulinism due to UCP2 anomaly Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism-hyperammonemia due to GLUD1 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkeratosis congenita Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans of Flegel Hyperkeratosis palmoplantaris striata varians Hyperkeratosis-hyperpigmentation syndrome Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermobile Ehlers-Danlos syndrome Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpigmentation of the skin Hyperprolinemia type 1 Hyperprolinemia type 2 Hypersarcosinemia Hypersensitivity pneumonitis Hypersensitivity vasculitis Hypertelorism-hypospadias syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertension due to gain-of-function mutations in MR Hyperthyroidism Hypertrichosis cubiti Hypertrichosis lanuginosa acquisita Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichosis-pigmentary retinopathy-facial anomalies syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy due to mitochondrial disease Hypertrophic cardiomyopathy with kidney anomalies and limb defects syndrome Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of Dejerine-Sottas Hypertrophic olivary degeneration Hypertrophic or verrucous lupus erythematosus Hypertrophic osteoarthropathy, primary Hypertrophic pyloric stenosis Hypertrophic spinal pachymeningitis Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure syndrome Hyperviscosity Syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retardation syndrome Hypoadrenalism Hypoalphalipoproteinemia Hypobetalipoproteinemia due to ANGPTL3 deficiency Hypobetalipoproteinemia-chylomicron retention disease syndrome Hypocalcemic seizures-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypocalciuric hypercalcemia, familial Hypochondrogenesis Hypocomplementemic urticarial vasculitis Hypocretin/orexin deficiency syndrome Hypodiploid ALL Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Hypogammaglobulinaemia Hypogammaglobulinemia due to CD21 deficiency Hypogammaglobulinemia due to CD81 deficiency Hypogammaglobulinemia due to FNIP1 deficiency Hypogammaglobulinemia due to LAT deficiency Hypogammaglobulinemia due to MSN deficiency Hypogammaglobulinemia due to TWEAK deficiency Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Hypogenetic lung syndrome Hypoglossia-hypodactylia syndrome Hypoglossia/aglossia Hypogonadism Hypogonadism-alopecia-diabetes mellitus-mental retardation syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-developmental delay syndrome Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypointestinal pseudoobstruction with facial dysmorphism syndrome Hypokalemic alkalosis with sensorineural deafness Hypokalemic alkalosis-hypomagnesemia syndrome Hypokalemic nephropathy Hypokalemic nephropathy with sensorineural deafness Hypokalemic periodic paralysis type 1 Hypokalemic periodic paralysis type 2 Hypokalemic periodic paralysis with central core disease Hypokalemic periodic paralysis with paramyotonia Hypokalemic periodic paralysis, atypical form Hypokalemic rickets Hypokalemic sensory overstimulation Hypokalemic tubulopathy with hearing loss Hypokeratosis of palms and soles Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy Hypomyelinating leukodystrophy due to FAM126A deficiency Hypomyelinating leukodystrophy due to HIKESHI deficiency Hypomyelinating leukodystrophy due to NKX6-2 deficiency Hypomyelinating leukodystrophy due to TMEM106B deficiency Hypomyelinating leukodystrophy with brain stem and spinal cord involvement Hypomyelinating leukodystrophy with or without oligodontia Hypomyelinating leukodystrophy with slowly progressive ataxia Hypomyelinating leukodystrophy-ataxia-hypodontia syndrome Hypomyelinating leukodystrophy-hypogonadotropic hypogonadism syndrome Hypomyelinating neuropathy with congenital glaucoma Hypomyelinating neuropathy-congenital cataract syndrome Hypomyelination and congenital cataract Hypomyelination with atrophy of the basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with cataract and developmental delay Hypomyelination with congenital spondylocostal dysostosis Hypomyelination with delayed myelination and vanishing white matter Hypomyelination with early cerebellar atrophy Hypomyelination with hypodontia and hypogonadotropic hypogonadism Hypomyelination with optic nerve atrophy and basal ganglia abnormalities Hypomyelination with severe intellectual disability and basal ganglia abnormalities Hypomyelination with vanishing white matter Hypomyelination, hypogonadotropic hypogonadism and hypodontia Hypomyelination-congenital cataract syndrome Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Hypoparathyroidism Hypoparathyroidism due to CASR gain-of-function mutation Hypoparathyroidism due to GCM2 deficiency Hypoparathyroidism due to GNA11 gain-of-function mutation Hypoparathyroidism due to PTH deficiency Hypoparathyroidism due to SOX3 duplication Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal dysplasia syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism due to TBCE deficiency Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability syndrome Hypophosphatasia Hypophosphatasia due to ALPL deficiency Hypophosphatasia, adult form Hypophosphatasia, childhood form Hypophosphatasia, infantile form Hypophosphatasia, odontohypophosphatasia form Hypophosphatasia, perinatal benign form Hypophosphatasia, perinatal lethal form Hypophosphatasia-seizures-intellectual disability syndrome Hypophosphatemic nephrolithiasis-osteoporosis syndrome Hypophosphatemic rickets with hypercalciuria Hypophosphatemic rickets with hyperparathyroidism Hypophosphatemic rickets with nephrocalcinosis Hypophosphatemic rickets with renal phosphate wasting Hypophosphatemic rickets, autosomal dominant Hypophosphatemic rickets, autosomal recessive Hypophosphatemic rickets, X-linked dominant Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation, organomegaly, and delayed myelination syndrome Hypopigmentation-deafness syndrome Hypopigmentation-immunodeficiency with or without neurologic defects syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism Hypopituitarism due to GLI2 deficiency Hypopituitarism due to HESX1 deficiency Hypopituitarism due to LHX3 deficiency Hypopituitarism due to LHX4 deficiency Hypopituitarism due to LHX4 mutation with Chiari malformation Hypopituitarism due to OTX2 deficiency Hypopituitarism due to POU1F1 deficiency Hypopituitarism due to PROP1 deficiency Hypopituitarism due to transcription factor defect Hypopituitarism with ectopic posterior pituitary and pituitary stalk interruption syndrome Hypoplasia of corpus callosum with microcephaly and coloboma Hypoplasia of the cerebellum with progressive microcephaly Hypoplasia of the inferior cerebellar vermis with psychomotor retardation Hypoplasia of the mitral valve annulus Hypoplasia of the optic nerve with endocrine abnormalities Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta and nephrocalcinosis Hypoplastic anemia due to ribosomal protein deficiency Hypoplastic anemia with myelofibrosis Hypoplastic anemia-retardation syndrome Hypoplastic bone marrow failure syndrome Hypoplastic corpus callosum-retinopathy syndrome Hypoplastic distal phalanges-hypoplastic nails syndrome Hypoplastic left heart complex Hypoplastic left heart syndrome Hypoplastic left heart syndrome with aortic atresia Hypoplastic left heart syndrome with intestinal malrotation Hypoplastic left heart syndrome with mitral atresia Hypoplastic left heart syndrome with mitral stenosis Hypoplastic left heart syndrome with restrictive atrial septum Hypoplastic left heart syndrome with splenic anomalies Hypoplastic myelodysplastic syndrome Hypoplastic myelodysplastic syndrome with fibrosis Hypoplastic or aplastic tibia with polydactyly Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic right heart syndrome Hypoplastic right ventricle with pulmonary atresia Hypoplastic thumbs and halluces with ocular anomalies Hypoplastic thumbs with distal phalangeal aplasia and short stature Hypoplastic thumbs-onychodystrophy-deafness syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tricuspid valve syndrome Hypoplastic tricuspid valve with pulmonary atresia Hypoplastic uterus and vagina syndrome Hypoplastic uterus with distal vaginal atresia Hypoplastic vitreoretinopathy Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyporegenerative anemia with mitochondrial dysfunction Hyporeninemic hypertension Hyporeninemic hypoaldosteronism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias with facial anomalies and intellectual disability Hypospadias with growth retardation syndrome Hypospadias, severe form Hypospadias-dysphagia syndrome Hypospadias-intellectual disability, Goldblatt type Hypospadias-mental retardation syndrome Hypospadias-microcephaly syndrome Hypospadias-retardation syndrome, Opitz type Hypospadias-short stature-intellectual disability syndrome Hypotelorism-cleft palate-hypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartoma with gelastic seizures Hypothyroidism Hypothyroidism due to deficient transcription factors Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Hypotonia and developmental delay with atrophy of the leg muscles Hypotonia and ichthyosis due to dolichol phosphate mannose synthase deficiency Hypotonia and intellectual disability syndrome due to UNC80 deficiency Hypotonia and psychomotor retardation with characteristic facies Hypotonia ataxia developmental delay syndrome Hypotonia developmental delay and characteristic facies syndrome Hypotonia infantile with psychomotor retardation and characteristic facies 1 Hypotonia infantile with psychomotor retardation and characteristic facies 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia infantile with psychomotor retardation and characteristic facies 4 Hypotonia infantile with psychomotor retardation and characteristic facies 5 Hypotonia infantile with psychomotor retardation and characteristic facies 6 Hypotonia infantile with psychomotor retardation and characteristic facies 7 Hypotonia with lactic acidemia and hyperammonemia Hypotonia, infantile, with psychomotor retardation and characteristic facies 10 Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 Hypotonia, infantile, with psychomotor retardation and characteristic facies 8 Hypotonia, infantile, with psychomotor retardation and characteristic facies 9 Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome Hypotonia-cerebellar atrophy-developmental delay syndrome Hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome due to 2p21 deletion Hypotonia-cystinuria type 1 syndrome Hypotonia-deafness syndrome Hypotonia-encephalopathy-seizure syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypotonia-hypogonadism-hypogenitalism-obesity-developmental delay syndrome Hypotonia-intellectual disability-behavioral abnormalities syndrome Hypotonia-intellectual disability-obesity syndrome Hypotonia-motor delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome due to CTBP1 deficiency Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy due to CDH3 deficiency Hypotrichosis with keratosis pilaris and alopecia Hypotrichosis with recurrent skin blistering Hypotrichosis with recurrent skin vesicles Hypotrichosis with woolly hair Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-juvenile macular degeneration syndrome Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defects syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-retinal degeneration juvenile macular dystrophy syndrome Hypotrichosis-skin lesions-acral blistering syndrome Hypouricemia with exercise-induced acute kidney injury Hypouricemia, renal Hypouricemia, renal, type 1 Hypouricemia, renal, type 2 Hypouricemic nephrolithiasis Hypouricemic nephropathy Hypoventilation due to congenital leptin receptor deficiency Hypoventilation syndrome due to congenital leptin deficiency Hypovitaminosis D rickets due to vitamin D receptor defect Hypoxic-ischemic encephalopathy Hyrtl anomaly Hystrix-like ichthyosis with deafness syndrome Hystrix-like ichthyosis-deafness syndrome due to GJB2 deficiency I-TGCV ICF syndrome ICF syndrome type 2 ICF syndrome type 3 ICF syndrome type 4 Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome Ichthyosis vulgaris Ichthyosis-spastic quadriplegia-mental retardation syndrome Idiopathic CD4 lymphocytopenia Idiopathic environmental intolerance Idiopathic generalized epilepsy Idiopathic Hyperprolactinaemia Idiopathic infantile arterial calcification Idiopathic ketotic hypoglycemia Idiopathic lymphocytopenia Idiopathic non-cirrhotic portal hypertension Idiopathic pleuroparenchymal fibroelastosis Idiopathic portal hypertension Idiopathic scoliosis Idiopathic short stature Idiopathic systemic capillary leak syndrome Idiopathic Thrombocytopenic Purpura Idiopathic ventricular tachycardia IgA glomerulonephritis IgA nephropathy IgA pemphigus IgA vasculitis IgG4-related disease IGHD IGHD type 1A IGHD type 1B IGHD type 2 IGHD type 3 IgM deficiency, selective IgM glomerulonephritis IgM nephropathy IL10 deficiency IL10 receptor deficiency IL12 receptor beta 1 deficiency IL21 receptor deficiency IL2RG deficiency IL6 receptor deficiency IL7 receptor deficiency Imerslund-Gräsbeck syndrome Immune complex mediated vasculitis Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune hydrops fetalis Immune thrombocytopenia, chronic Immune-mediated acquired neuromuscular junction disease Immune-mediated cerebellar ataxia Immune-mediated necrotizing myopathy Immune-mediated scleritis Immune-mediated thrombotic thrombocytopenic purpura Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to ADA deficiency Immunodeficiency due to AK2 deficiency Immunodeficiency due to CARD11 deficiency Immunodeficiency due to CARD9 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to CD40 deficiency Immunodeficiency due to CD40 ligand deficiency Immunodeficiency due to DOCK8 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to GATA2 deficiency Immunodeficiency due to IKZF1 deficiency Immunodeficiency due to IL2RB deficiency Immunodeficiency due to IRF8 deficiency Immunodeficiency due to JAK3 deficiency Immunodeficiency due to LCK deficiency Immunodeficiency due to MALT1 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to NEMO deficiency Immunodeficiency due to ORAI1 deficiency Immunodeficiency due to PIK3CD mutation Immunodeficiency due to PIK3R1 mutation Immunodeficiency due to PNP deficiency Immunodeficiency due to RAG1 deficiency Immunodeficiency due to RAG2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to STAT1 gain-of-function mutation Immunodeficiency due to STAT3 mutation Immunodeficiency due to STIM1 deficiency Immunodeficiency due to TCF3 deficiency Immunodeficiency due to TYK2 deficiency Immunodeficiency due to ZAP70 deficiency Immunodeficiency with antibody deficiency and autoimmunity Immunodeficiency with combined B and T cell defect Immunodeficiency with DNA repair defect Immunodeficiency with factor I anomaly Immunodeficiency with hyper IgE and recurrent infections Immunodeficiency with hyper IgM due to AICDA deficiency Immunodeficiency with hyper IgM due to UNG deficiency Immunodeficiency with hyper IgM, X-linked Immunodeficiency with hypopigmentation and neurologic abnormalities Immunodeficiency with immune dysregulation due to FOXP3 deficiency Immunodeficiency with lymphopenia due to CD3 deficiency Immunodeficiency with lymphopenia due to CD45 deficiency Immunodeficiency with lymphopenia due to CORO1A deficiency Immunodeficiency with lymphopenia due to MST1 deficiency Immunodeficiency with lymphopenia due to PTPRC deficiency Immunodeficiency with lymphopenia due to RAC2 deficiency Immunodeficiency with lymphopenia due to TTC7A deficiency Immunodeficiency with lymphoproliferation and autoimmunity Immunodeficiency with multiple intestinal atresias Immunodeficiency with susceptibility to EBV infection Immunodeficiency with susceptibility to fungal infections Immunodeficiency with susceptibility to herpes simplex virus infection Immunodeficiency with susceptibility to HPV infection Immunodeficiency with susceptibility to mycobacterial disease Immunodeficiency with susceptibility to viral infections Immunodeficiency with thymoma Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-epilepsy syndrome Immunodeficiency-intellectual disability syndrome Immunodeficiency-microcephaly syndrome Immunodeficiency-short stature-facial dysmorphism syndrome Immunotherapy induced hypophysitis Imperforate oropharynx-costovertebral anomalies syndrome Imprinting disorders Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Incomplete septal cirrhosis Indeterminate cell histiocytosis Indolent B-cell non-Hodgkin lymphoma Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indomethacin embryofetopathy Infant botulism Infantile apnea Infantile bilateral striatal necrosis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome Infantile CLN1 disease Infantile CLN2 disease Infantile convulsions and choreoathetosis Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile epileptic spasms syndrome Infantile epileptic-dyskinetic encephalopathy Infantile esotropia Infantile facioscapulohumeral muscular dystrophy Infantile free sialic acid storage disease Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis Infantile hemangioma Infantile hepatocerebral mitochondrial DNA depletion syndrome Infantile hypophosphatasia Infantile hypotonia with psychomotor retardation Infantile idiopathic scoliosis Infantile Krabbe disease Infantile liver failure syndrome type 1 Infantile liver failure syndrome type 2 Infantile liver failure syndrome type 3 Infantile liver failure syndrome type 4 Infantile liver failure syndrome type 5 Infantile liver failure syndrome type 6 Infantile malignant osteopetrosis Infantile neuroaxonal dystrophy Infantile onset ascending hereditary spastic paralysis Infantile onset epileptic encephalopathy Infantile onset sialidosis Infantile onset spinal muscular atrophy with respiratory distress Infantile onset spinocerebellar ataxia Infantile spasms syndrome Infantile spondylocostal dysostosis Infantile systemic hyalinosis Infantile systemic lupus erythematosus Infantile tremor syndrome Infantile unilateral striatal necrosis Infantile visceral leishmaniasis Infantile-onset inflammatory bowel disease Infantile-onset multisystem neurologic endocrine pancreatic disease Infantile-onset spinocerebellar degeneration Infantile-onset X-linked spinal muscular atrophy Infectious aortitis Infectious crystalline keratopathy Infectious scleritis Infective Endocarditis Infective myocarditis Inferior Vena-caval Obstruction Inflammatory aortic aneurysm Inflammatory Bowel Disease Inflammatory bowel disease associated with immunodeficiency Inflammatory bowel disease due to IL10 deficiency Inflammatory bowel disease due to IL10 receptor deficiency Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory pseudotumor of kidney Inflammatory pseudotumor of liver Inflammatory pseudotumor of lung Inflammatory pseudotumor of orbit Inflammatory pseudotumor of spleen Inflammatory/autoimmune disorder involving the lacrimal system Infundibulo-neurohypophysitis Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing lymphoproliferative syndrome Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited digestive cancer-predisposing syndrome Inherited epidermodysplasia verruciformis Inherited epidermolysis bullosa Inherited gynecological cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome Inherited human prion disease Inherited ichthyosis Inherited ichthyosis syndromic form Inherited isolated adrenal insufficiency due to STAR deficiency Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, biventricular form Inherited isolated arrhythmogenic cardiomyopathy, left dominant form Inherited isolated arrhythmogenic ventricular cardiomyopathy Inherited nervous system cancer-predisposing syndrome Inherited renal cancer-predisposing syndrome Inherited retinal disorder Inherited zinc deficiency Iniencephaly Inoculation botulism INPP5K-related syndrome Insulin autoimmune syndrome Insulin Resistance Insulin-resistance syndrome type A Insulin-resistance syndrome type B Int22h1/Int22h2 mediated-Xq28 microduplication syndrome Integrinopathy Intellectual disability associated with fragile site FRAXE Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability, Buenos-Aires type Intellectual disability, Mietens-Weber type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome Intellectual disability-craniofacial dysmorphism-cardiac defect syndrome Intellectual disability-craniofacial dysmorphism-short stature syndrome Intellectual disability-craniofacial dysmorphism-skeletal anomalies syndrome Intellectual disability-epilepsy-movement disorder syndrome Intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Intellectual disability-facial dysmorphism-skeletal anomalies syndrome Intellectual disability-hearing loss syndrome Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intellectual disability-macrocephaly syndrome Intellectual disability-microcephaly syndrome Intellectual disability-motor delay syndrome Intellectual disability-myopathy syndrome Intellectual disability-ocular anomalies syndrome Intellectual disability-spasticity syndrome Interatrial communication Intercostal nerve syndrome Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate atrioventricular septal defect Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate Charcot-Marie-Tooth disease Intermediate collagen VI-related muscular dystrophy Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate generalized junctional epidermolysis bullosa Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate uveitis Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent Claudication Intermittent hydrarthrosis Intermittent maple syrup urine disease Internal carotid absence Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interstitial lung disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to NKX2-1 mutation Interstitial lung disease due to surfactant protein B deficiency Interstitial lung disease due to surfactant protein C deficiency Interstitial pneumonia with autoimmune features Interstitial pulmonary fibrosis associated with telomerase defect Intervertebral Disc Rupture Intestinal duplication Intestinal epithelial dysplasia Intestinal epithelial dysplasia, syndromic form Intestinal failure Intestinal lymphangiectasia Intestinal malrotation Intestinal neuronal dysplasia Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intestinal pseudo-obstruction Intestinal pseudo-obstruction, chronic idiopathic Intestinal pseudo-obstruction, familial visceral myopathy type Intestinal pseudo-obstruction, familial visceral neuropathy type Intestinal vascular malformation Intracranial aneurysm, familial Intracranial calcification syndrome Intracranial germinoma Intracranial hypertension, idiopathic Intracranial lipoma Intracranial meningioma, familial Intracranial teratoma Intrauterine Growth Restriction Intrinsic factor deficiency Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease Isochromosome Y syndrome Isochromosomy Yp syndrome Isochromosomy Yq syndrome Isolated absence of both forearm and hand Isolated absence of both lower leg and foot Isolated absence of thigh and lower leg with foot present Isolated absence of upper arm and forearm with hand present Isolated absence/hypoplasia of fingers excluding thumb, unilateral Isolated acheiria Isolated acheiropodia Isolated adrenal medullary hyperplasia Isolated agenesis of gallbladder Isolated amelia of lower limb Isolated amelia of upper limb Isolated amyelia Isolated anal canal duplication Isolated angioid streaks Isolated ankyloblepharon filiforme adnatum Isolated anogenital granulomatosis Isolated anterior cervical hypertrichosis Isolated apodia Isolated arhinencephaly Isolated arrhinia Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated atrial septal defect Isolated atrioventricular block, congenital Isolated basilar invagination Isolated bilateral renal agenesis Isolated brachydactyly type A1 Isolated brachydactyly type A2 Isolated brachydactyly type A3 Isolated brachydactyly type B Isolated brachydactyly type C Isolated brachydactyly type D Isolated brachydactyly type E Isolated bronchogenic cyst Isolated congenital diaphragmatic hernia Isolated congenital ptosis Isolated congenital pulmonary airway malformation Isolated congenital tracheal stenosis Isolated coronal craniosynostosis Isolated craniosynostosis Isolated ectopia lentis Isolated familial exudative vitreoretinopathy Isolated generalized epilepsy Isolated hemihyperplasia Isolated hypogonadotropic hypogonadism Isolated lateral meningocele Isolated left bronchial isomerism Isolated left pulmonary artery sling Isolated left ventricular noncompaction Isolated levocardia Isolated lissencephaly type 1 without known genetic defects Isolated lower lip fistula Isolated lower lip pits Isolated macular dystrophy Isolated median cleft face syndrome Isolated megalencephaly Isolated megalopapilla Isolated melanocytic schwannoma Isolated melanotic schwannoma Isolated mesenteric lipodystrophy Isolated mesenteric vein thrombosis Isolated metopic and sagittal craniosynostosis Isolated metopic craniosynostosis Isolated micronodular adrenocortical disease Isolated microspherophakia Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated multicystic dysplastic kidney Isolated nail clubbing Isolated nephrogenic diabetes insipidus Isolated neural tube defect Isolated neuronal ceroid lipofuscinosis Isolated noncompaction cardiomyopathy Isolated oligodontia Isolated osteogenesis imperfecta Isolated partial atrioventricular septal defect Isolated patent ductus arteriosus Isolated Pierre Robin sequence with developmental delay Isolated pituitary hormone deficiency Isolated posterior cervical hypertrichosis Isolated postnatal microcephaly Isolated primary microcephaly Isolated pulmonary artery of ductal origin Isolated pulmonary capillaritis Isolated pulmonary valve stenosis Isolated pyramidal syndrome Isolated radial ray defect Isolated renal magnesium wasting Isolated rhombencephalosynapsis Isolated right atrial isomerism Isolated right ventricular hypoplasia Isolated sagittal craniosynostosis Isolated sedoheptulokinase deficiency Isolated segmental infantile hemangioma Isolated small intestine duplication Isolated splenic vein thrombosis Isolated splenogonadal fusion Isolated split hand-split foot malformation Isolated spontaneous cervical artery dissection Isolated stationary inherited retinal disorder Isolated sternocostoclavicular hyperostosis Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated tetra-amelia Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated tibial hemimelia Isolated tibio-fibular synostosis Isolated total cerebellar vermis agenesis Isolated tracheoesophageal fistula Isolated transitional filum lipoma Isolated tubular duplication of the esophagus Isolated ulnar hemimelia Isolated unilateral hemispheric cerebellar hypoplasia Isolated unisquamosal craniosynostosis Isolated unisutural craniosynostosis Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isolated vitreoretinopathy Isomerism of left atrial appendage Isosporiasis Isotretinoin syndrome Isotretinoin-like syndrome ISPD-related limb-girdle muscular dystrophy R20 ISSD ITK deficiency ITM2B amyloidosis ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ITPN IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr Syndrome Jackson-Weiss Syndrome Jaffe-Campanacci Syndrome Jaffe-Lichtenstein Disease Jagell-Holmgren-Hofer Syndrome Jamaican Vomiting Sickness Jancar Syndrome Jankovic-Rivera Syndrome Jansen-de Vries Syndrome Jaw-Winking Syndrome Jawad Syndrome Jeavons Syndrome Jejunal Atresia Microcephaly Ocular Anomalies Syndrome Jessner Lymphocytic Infiltration of the Skin Johnson Neuroectodermal Syndrome Johnson Syndrome Johnson-McMillin Syndrome Johnson-Munson Syndrome Johnston-Aarons-Schelley Syndrome Joint Instability Syndrome Jones Syndrome Joubert Syndrome with Ocular Defect Joubert Syndrome with Renal Defect Joubert Syndrome with Retinopathy Juberg-Hayward Syndrome Junctional Ectopic Tachycardia Junctional Epidermolysis Bullosa, Disentis Type Junctional Epidermolysis Bullosa, Herlitz Type Junctional Epidermolysis Bullosa, non-Herlitz Localized Type Jung Syndrome Junin Hemorrhagic Fever Jussieu Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Aponeurotic Fibromatosis Juvenile Bone Cyst Juvenile Canavan Disease Juvenile Cataract Microcornea Renal Glucosuria Syndrome Juvenile Charcot Disease Juvenile CLN Disease Juvenile Dermatomyositis Juvenile Elastoma without Osteopoikilosis Juvenile Enthesitis-Related Arthritis Juvenile Gastrointestinal Polyposis Juvenile Glaucoma Juvenile GM1 Gangliosidosis Juvenile Hemochromatosis Juvenile Hyaline Fibromatosis Juvenile Idiopathic Inflammatory Myopathy Juvenile Inflammatory Arthritis Juvenile Intestinal Polyposis Juvenile Lou Gehrig Disease Juvenile Muscular Atrophy of the Distal Upper Limb Juvenile Myasthenia Gravis Juvenile Nasopharyngeal Angiofibroma Juvenile Nephronophthisis Juvenile Nephropathic Cystinosis Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Osteoporosis Juvenile Overlap Myositis Juvenile Paget Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Juvenile Periodontitis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis of Infancy Juvenile Polyposis Syndrome Juvenile Primary Lateral Sclerosis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juvenile-onset Diabetes Mellitus Central and Peripheral Neurodegeneration Syndrome Juvenile-onset Multiple Carboxylase Deficiency Juvenile-onset Myotonic Dystrophy Type 1 Juvenile-onset Steinert Disease Juvenile-onset Vitelliform Macular Dystrophy Juxtaposition of the Atrial Appendages K+-aggravated myotonia Kabuki Syndrome Kaeser syndrome Kagami-Ogata syndrome Kaler-Garrity-Stern syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karsch-Neugebauer syndrome Karyomegalic interstitial nephritis Kasabach-Merritt phenomenon KAT5-related neurodevelopmental disorder KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome KAT6A syndrome KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome Kaya-Barakat-Masson syndrome Kaya-Prontera syndrome KBG syndrome KCNE1-related isolated congenital long QT syndrome KCNE2-related isolated congenital long QT syndrome KCNH2-related isolated congenital long QT syndrome KCNK9 imprinting syndrome KCNQ1-related isolated congenital long QT syndrome KCNQ2-related developmental and epileptic encephalopathy KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM5C-related syndromic X-linked intellectual disability Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Paterson syndrome Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratinopathic ichthyosis Keratitis fugax hereditaria Keratitis-ichthyosis-deafness syndrome Keratoconjunctivitis Sicca Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratoendotheliitis fugax hereditaria Keratolytic winter erythema Keratomycosis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris varians of Wachters Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantaris-esophageal syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis pilaris atrophicans Kerion celsi Kernicterus Kernicterus spectrum disorder Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Kidney dysplasia Kidney dysplasia, bilateral Kidney dysplasia, unilateral Kidney tubulopathy-dilated cardiomyopathy syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kilquist syndrome Kimura disease Kindler epidermolysis bullosa Kindler syndrome Kinetic abnormalities of the acetylcholine receptor King-Denborough syndrome Kinsbourne syndrome Kjellin syndrome carcinoma syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Crisponi/cold induced sweating-like syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klinefelter Syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil Syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome KMT2B-related dystonia KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT5B haploinsufficiency neurodevelopmental disorder Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohler disease Kohlschütter-Tönz syndrome Kok disease Kommerell diverticulum Komuragaeri disease Koolen-De Vries syndrome Kopysc-Barczyk-Krol syndrome Kosaki overgrowth syndrome Kosenow syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krasnow-Qazi syndrome Krause-Kivlin syndrome Krebs cycle disorder Kreiborg-Pakistani syndrome KRT1-related diffuse NEPPK KRT1-related diffuse nonepidermolytic keratoderma Kufor-Rakeb syndrome Kufs disease type B Kugelberg-Welander disease Kunze-Riehm syndrome Kuru Kuskokwim syndrome Kuzniecky syndrome Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome Kyphosis-lateral tongue atrophy myofibrillar myopathy syndrome Küttner tumor Köhlmeier-Degos disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-ferritin deficiency L-glyceric aciduria L1 syndrome La Crosse encephalitis Laband syndrome Labrune syndrome Lacrimal drainage system anomaly Lacrimal drainage system anomaly of genetic origin Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LADD syndrome Ladda-Zonana-Ramer syndrome Laing distal myopathy LAMA2-related muscular dystrophy LAMA5-related multisystemic syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related late-onset muscular dystrophy Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Laminopathy Laminopathy with lipodystrophy Laminopathy with peripheral neuropathy Laminopathy with premature aging Laminopathy with striated muscle involvement LAMM syndrome Landau-Kleffner syndrome Landing disease Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans Cell Histiocytosis Langerhans cell sarcoma Laparoschisis LARD syndrome Large cell lymphoma of the mediastinum Large granular lymphocyte leukemia Large segmental hemangioma Large/giant congenital melanocytic nevus Laron syndrome with immunodeficiency Laron-like syndrome Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx anomaly Larynx atresia Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile neuronal ceroid lipofuscinosis type 1 Late infantile neuronal ceroid lipofuscinosis type 10 Late infantile neuronal ceroid lipofuscinosis type 2 Late infantile neuronal ceroid lipofuscinosis type 5 Late infantile neuronal ceroid lipofuscinosis type 6 Late infantile neuronal ceroid lipofuscinosis type 8 Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset brain arteriovenous fistula Late-onset citrullinemia type 1 Late-onset combined immunodeficiency due to ICOS deficiency Late-onset combined immunodeficiency due to ICOSL deficiency Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset familial encephalopathy with neuroserpin inclusion bodies Late-onset familial hyperreninemic hypoaldosteronism Late-onset familial hypoaldosteronism Late-onset focal dermal elastosis Late-onset idiopathic chronic pancreatitis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset myotonic dystrophy type 1 Late-onset nephronophthisis Late-onset Pompe disease Late-onset primary lymphedema without systemic or visceral involvement Late-onset retinal degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset spinal arteriovenous fistula Late-onset spinal motor neuronopathy Late-onset SPMD with hyaline bodies Late-onset Tay-Sachs disease Lateral facial cleft Lateral meningocele syndrome Lathosterolosis Lattice corneal dystrophy type 1 Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome Lead poisoning Learman syndrome Leber miliary aneurysm Leber optic atrophy Leber plus disease Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left atrial isomerism Left Atrial Isomerism Left bronchial isomerism without heterotaxy Left coronary artery from right aortic sinus Left isomerism Left renal vein entrapment syndrome Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac Saint-Jean type Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminata Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome LEMD2-associated nuclear envelopathy with early progeroid appearance Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens position anomaly Lens position anomaly of genetic origin Lens shape anomaly Lens size anomaly Lens size anomaly of genetic origin Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia syndrome Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprosy Leprosy Leptomeningeal melanomatosis Leri pleonosteosis Léri-Weill dyschondrosteosis Lethal 1p36.33 deletion syndrome Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects Lethal chondrodysplasia Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal faciocardiomelic dysplasia Lethal fetal brain malformation duodenal atresia-bilateral renal hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis-hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephaly diaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal hyperkeratosis-contracture syndrome Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal midline granuloma Lethal multiple congenital anomalies-dysmorphic syndrome Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal polymalformative syndrome, Boissel type Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia pulmonary hypoplasia syndrome Lethal tight skin-contracture syndrome Letrozole toxicity Leucoplakia - Oral / Hairy Leukaemia Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy Leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy with oligodontia Leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levocardia Levocardia with situs inversus Levy-Hollister syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LGMD D5 collagen VI-related dystrophy LGMD R22 collagen VI-related dystrophy Lhermitte-Duclos disease Li-Fraumeni syndrome Liang-Wang syndrome Liberfarb syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen myxedematosus Lichen planopilaris Lichen planus Lichen planus pemphigoides Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Limb body wall complex Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 2X Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to BVES deficiency Limb-girdle muscular dystrophy due to BVES deficiency (BVES-related LGMD) Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2B Limb-girdle muscular dystrophy type 2C Limb-girdle muscular dystrophy type 2D Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2G Limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy type 2M Limb-girdle muscular dystrophy type 2N Limb-girdle muscular dystrophy type 2O Limb-girdle muscular dystrophy type 2P Limb-girdle muscular dystrophy type 2Q Limb-girdle muscular dystrophy type 2S Limb-girdle muscular dystrophy type 2T Limb-girdle muscular dystrophy type 2U Limb-girdle muscular dystrophy type 2X Limb-girdle muscular dystrophy type 2Y Limb-girdle muscular dystrophy type 2Z Limb-girdle muscular dystrophy type D4 Limb-girdle muscular dystrophy type R23 Limb-girdle muscular dystrophy type R24 Limb-girdle muscular dystrophy type R28 Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophy-intellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis Limbic encephalitis-neuromyotonia syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Limit dextrinosis Limited cutaneous systemic sclerosis Limited dorsal myeloschisis Lindau disease Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear IgA dermatosis Linear lichen planus Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy Lipid storage disease Lipid storage myopathy Lipoamide dehydrogenase deficiency Lipoate biosynthesis defect Lipoatrophia semicircularis Lipoatrophy caused by injected drug Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid Nephrosis Lipoid Proteinosis Lipoid proteinosis Lipoma of the filum terminale Lipomatosis dolorosa Lipomatous flat limited dorsal myeloschisis Lipomatous mesenteritis Lipomatous non-saccular limited dorsal myeloschisis Lipomucopolysaccharidosis Lipoprotein deficiency Lipoprotein glomerulopathy Lipoprotein lipase deficiency Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisch nodules Lisch syndrome Lisker-Garcia-Ramos syndrome Lison syndrome Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, Norman Roberts type Lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 Lissencephaly type 2 with muscular and ocular involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Littoral cell angioma of the spleen Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis with summer ulcerations Livedo reticularis-cerebrovascular accident syndrome Livedo-like dermatitis Livedoid vasculopathy Liver Abscess Liver adenomatosis Liver cirrhosis due to metabolic disease Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Liver Failure Liver fibrosis Liver fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Liver glycogen phosphorylase deficiency LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy Lobar holoprosencephaly Lobstein disease LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa, acral form Localized dystrophic epidermolysis bullosa, nails only Localized dystrophic epidermolysis bullosa, pretibial form Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized intravascular coagulation Localized junctional epidermolysis bullosa Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lipodystrophy Localized pagetoid reticulosis Localized pleural mesothelioma Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Loiasis Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Long QT syndrome type 5 Long QT syndrome type 6 Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Loricrin keratoderma Lou Gehrig disease Loucks-Innes syndrome Louis-Bar syndrome Low oxygen affinity alpha chain hemoglobin disease Low oxygen affinity beta chain hemoglobin disease Low oxygen affinity gamma chain hemoglobin disease Low oxygen affinity hemoglobin disease Low phospholipid-associated cholelithiasis Low resistance capillary malformation Low-flow priapism Low-flow vascular malformation of the bone Low-grade appendiceal mucinous neoplasm Low-grade astrocytoma Low-grade neuroendocrine tumor of the corpus uteri Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe-Kohn-Cohen syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower limb hypertrophy Lower limb malformation hypospadias syndrome Lower motor neuron syndrome with late-adult onset Lower urinary tract obstruction Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LQTS type 8 LRP5-related primary osteoporosis LTC4 synthase deficiency Lubag disease Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lucey-Driscoll syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung Carcinoma Lung fibrosis immunodeficiency-46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Luscan-Lumish syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Lyell syndrome Lyme borreliosis Lymphangioma Lymphatic filariasis Lymphatic-venous malformation Lymphedema with yellow nails Lymphedema-atrial septal defects-facial changes syndrome Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome Lymphedema-lymphangiectasia intellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic mastitis Lymphocytic mastopathy Lymphocytic variant HES Lymphoepithelial cyst of the pancreas Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid eosinophilic syndrome Lymphoid hemopathy Lymphoid HES Lymphoid interstitial pneumonia Lymphoma Lymphoma Lymphoma Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lymphoproliferative disease associated with primary immune disease Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome Lysine alpha-ketoglutarate reductase deficiency Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal alpha-D-mannosidase deficiency, juvenile form Lysosomal disease Lysosomal disease with epilepsy Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy Lysosomal glycogen storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal involvement Lysosomal storage disorder due to saposin B deficiency Lysozyme amyloidosis Lysyl hydroxylase-deficient EDS Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-congenital heart disease-facial dysmorphism syndrome Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular noncompaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADA MADaM MADD MADD, mild type MADD, severe neonatal type MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome Maffucci syndrome with spindle cell hemangiomas MAGIC syndrome Magnesium transporter defect-intellectual disability syndrome Magnetic gait disorder Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major congenital anomaly syndrome, multiple Major depressive disorder, familial early-onset type Major histocompatibility complex class I deficiency Major histocompatibility complex class II deficiency Major omphalocele Makrydimas syndrome Mal de débarquement Mal de Meleda Malabsorption Malakoplakia Malan overgrowth syndrome Malaria, congenital Malaria, severe complicated type Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to chromosome Y microdeletion Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Malformation of the anal canal and the rectum Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the esophagus Malformation of the intestine Malformation of the neurenteric canal, spinal cord and column Malformation of the stomach and the duodenum Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant blue nevus Malignant carcinoid syndrome Malignant chondroid syringoma Malignant cutaneous adnexal tumor, unspecified Malignant cylindroma Malignant eccrine poroma Malignant eccrine spiradenoma Malignant epithelial tumor of ovary Malignant epithelial tumor of pancreas Malignant epithelial tumor of stomach Malignant germ cell tumor of ovary Malignant germ cell tumor of testis Malignant glomus tumor Malignant granular cell tumor Malignant hidradenoma Malignant mesenchymal tumor of bladder Malignant mesenchymal tumor of uterus Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor Malignant myoepithelioma Malignant nodular hidradenoma Malignant odontogenic tumor Malignant ossifying fibromyxoid tumor Malignant otitis externa Malignant ovarian stromal tumor Malignant PEComa Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant perivascular epithelioid cell tumor Malignant pertussis Malignant pilomatricoma Malignant pleural tumor, rare type Malignant proliferating trichilemmal tumor Malignant renal epithelial tumor Malignant rhabdoid tumor Malignant rhabdoid tumor of kidney Malignant rhabdoid tumor of liver Malignant rhabdoid tumor of soft tissue Malignant smooth muscle tumor Malignant spiradenoma Malignant stromal tumor of gastrointestinal tract Malignant trichoblastoma Malignant triton tumor Malignant tumor of adrenal cortex Malignant tumor of bile duct Malignant tumor of bone, rare type Malignant tumor of brain, rare type Malignant tumor of gallbladder Malignant tumor of larynx, rare type Malignant tumor of liver, rare type Malignant tumor of lung, rare type Malignant tumor of nasal cavity Malignant tumor of pancreas, rare type Malignant tumor of paranasal sinus Malignant tumor of skin, rare type Malignant tumor of small intestine Malignant tumor of spleen Malignant tumor of thymus Malignant tumor of thyroid gland, rare type Malignant tumor of trachea Malignant tumor of ureter Malignant tumor of urethra Malignant tumor of vulva, rare type Malignant vascular tumor, rare type Mandibulo-palpebral synkinesisptosis syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, GuionAlmeida type Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosidase alpha class 2B member 2-congenital disorder of glycosylation Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle zone lymphoma MAP Map-dot-fingerprint dystrophy Marbach-Rustad progeroid syndrome Marbach-Schaaf neurodevelopmental syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan Syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome Marfanoid habitus-inguinal herniaadvanced bone age syndrome Marfanoid syndrome, De Silva type Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome type 2 Maroteaux type acromesomelic dysplasia Maroteaux-Lamy-like syndrome Maroteaux-type spondyloepimetaphyseal dysplasia Marrow hypoplasia with immunodeficiency syndrome Marshall syndrome Marshall-Smith syndrome Martinez-Frias syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastitis Mastocytoma Mastocytosis, systemic with associated hematologic neoplasm Mastocytosis, diffuse cutaneous Mastocytosis, indolent systemic Mastocytosis, smoldering systemic Mastocytosis, systemic aggressive type Mastocytosis-associated hematologic neoplasm Maternal uniparental disomy 14 syndrome Maternal uniparental disomy 15 syndrome Maternal uniparental disomy 20 syndrome Maternal uniparental disomy 7 syndrome Mathieu-De Broca-Bony syndrome Matthews syndrome May-Hegglin anomaly May-Hegglin anomaly variant May-Hegglin anomaly with Döhlelike bodies Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MBD5-associated neurodevelopmental disorder McArdle disease McArdle disease, late-onset form McArdle disease, severe infantile form McCune-Albright-like syndrome McDonough syndrome McKusick type metaphyseal chondrodysplasia McLeod neuroacanthocytosis syndrome McLeod syndrome with cardiomyopathy McLeod syndrome with cardiomyopathy and arrhythmia McLeod syndrome with hematologic and neurologic features McLeod syndrome with hematological abnormalities McLeod syndrome with multisystem involvement McLeod syndrome with neurodegeneration McLeod syndrome with neuropsychiatric features McLeod syndrome with progressive neurodegeneration McLeod syndrome McLeod syndrome with ataxia McLeod syndrome with autonomic dysfunction McLeod syndrome with behavioral disorder McLeod syndrome with cardiac involvement McLeod syndrome with chorea McLeod syndrome with cognitive impairment McLeod syndrome with dysarthria McLeod syndrome with dysphagia McLeod syndrome with dystonia McLeod syndrome with early-onset presentation McLeod syndrome with elevated creatine kinase McLeod syndrome with extrapyramidal features McLeod syndrome with hemolytic anemia McLeod syndrome with incomplete penetrance McLeod syndrome with late-onset presentation McLeod syndrome with movement disorder McLeod syndrome with muscle weakness McLeod syndrome with muscular involvement McLeod syndrome with myopathy McLeod syndrome with peripheral blood abnormalities McLeod syndrome with peripheral neuropathy McLeod syndrome with psychiatric and neurological features McLeod syndrome with psychiatric manifestations McLeod syndrome with seizures McLeod syndrome with spasticity McLeod syndrome with tremor McLeod syndrome with variable expressivity McLeod syndrome, atypical form McLeod syndrome, X-linked Meckel-like syndrome Meckel-like syndrome type 1 Meckel-like syndrome type 2 Meckel-like syndrome type 3 Meckel-like syndrome type 4 Meckel-like syndrome type 5 Meckel-like syndrome type 6 Meckel-like syndrome type 7 Meckel-like syndrome type 8 Meckel-like syndrome type 9 Meconium ileus Meconium ileus equivalent Meconium peritonitis Medial tibial stress syndrome Median arcuate ligament syndrome Median cleft lip Median cleft mandible Median facial cleft syndrome Median nail dystrophy Median raphe cyst Mediastinal non-seminomatous germ cell tumor Mediastinal Fibrosis Mediastinal germ cell tumor Mediastinal Granuloma Mediastinal seminoma Mediastinitis, chronic fibrosing type Medulloblastoma, rare subtype Meesmann corneal dystrophy Meester-Loeys syndrome MEF2C-related syndrome Mega-cisterna magna Megacalycosis Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemiaimmunodeficiency due to folate transporter 1 deficiency Megaloblastic Anaemia Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Megaoesophagus Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome MEI Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome MEITL Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of choroid Melanoma of soft tissue Melanoma of uvea Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS syndrome with lactic acidosis MELAS syndrome with ocular involvement MELAS syndrome with renal involvement MELAS syndrome with gastrointestinal involvement MELAS syndrome with multisystem involvement MELAS syndrome with cardiomyopathy MELAS syndrome with cardiomyopathy and arrhythmia MELAS syndrome with diabetes MELAS syndrome with endocrine dysfunction MELAS syndrome with epilepsy MELAS syndrome with hearing loss MELAS syndrome with movement disorder MELAS syndrome with myopathy MELAS syndrome with neuropathy MELAS syndrome with progressive neurodegeneration MELAS syndrome with psychiatric manifestations MELAS syndrome with stroke-like episodes MELAS syndrome, atypical form MELAS syndrome, childhood-onset type MELAS syndrome, late-onset type MELAS syndrome, maternally inherited form MELAS-like syndrome Meleda disease Melhem-Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melphalan-induced pulmonary toxicity Melphalan-related acute myeloid leukemia Melphalan-related myelodysplastic syndrome Membranoproliferative glomerulonephritis Membranous aplasia cutis congenita Membranous nephropathy, idiopathic Membranous nephropathy, secondary Membranous cataract Membranous glomerulonephritis Mendelian susceptibility to mycobacterial disease, IL-12 p40 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?1 deficiency Mendelian susceptibility to mycobacterial disease, IRF8 deficiency Mendelian susceptibility to mycobacterial disease, ISG15 deficiency Mendelian susceptibility to mycobacterial disease, NEMO deficiency Mendelian susceptibility to mycobacterial disease, STAT1 deficiency Mendelian susceptibility to mycobacterial disease, autosomal dominant form Mendelian susceptibility to mycobacterial disease, autosomal recessive form Mendelian susceptibility to mycobacterial disease, complete IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, IFN-? pathway defect, unspecified Mendelian susceptibility to mycobacterial disease, IFN-gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?2 deficiency Mendelian susceptibility to mycobacterial disease, JAK1 deficiency Mendelian susceptibility to mycobacterial disease, JAK2 deficiency Mendelian susceptibility to mycobacterial disease, partial IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, ROR?T deficiency Mendelian susceptibility to mycobacterial disease, SPPL2A deficiency Mendelian susceptibility to mycobacterial disease, TYK2 deficiency Mendelian susceptibility to mycobacterial disease, X-linked form Mendelian susceptibility to mycobacterial infections Ménétrier disease Mengel-Konigsmark syndrome Meniere's Disease Meningeal Haemorrhage Meningeal melanocytoma Meningioma Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menke-Hennekam syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERS Mesangiocapillary glomerulonephritis Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenchymal hamartoma of liver Mesenteric Adenitis Mesenteric lipogranuloma Mesenteric panniculitis Mesenteric Vein Thrombosis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, KozlowskiReardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma of the tunica vaginalis Mesulam syndrome Metabolic myopathy due to carnitine palmitoyltransferase I deficiency Metabolic myopathy due to carnitine palmitoyltransferase II deficiency Metabolic myopathy due to coenzyme Q10 deficiency Metabolic myopathy due to glycerol kinase deficiency Metabolic myopathy due to mitochondrial trifunctional protein deficiency Metabolic myopathy due to mitochondrial DNA depletion syndrome Metabolic myopathy due to mitochondrial respiratory chain defect Metabolic myopathy due to multiple acyl-CoA dehydrogenase deficiency Metabolic myopathy due to neutral lipid storage disease Metabolic myopathy due to phosphoglycerate kinase deficiency Metabolic myopathy due to phosphoglycerate mutase deficiency Metabolic myopathy due to primary carnitine deficiency Metabolic neurotransmission anomaly with epilepsy Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic diseases with epilepsy Metabolic myopathy Metabolic myopathy due to betaenolase deficiency Metabolic myopathy due to fatty acid oxidation disorder Metabolic myopathy due to glycogen storage disease type IX Metabolic myopathy due to glycogen storage disease type V Metabolic myopathy due to glycogen storage disease type VII Metabolic myopathy due to lactate dehydrogenase deficiency Metabolic myopathy due to lactate transporter defect Metabolic myopathy due to phosphofructokinase deficiency Metabolic myopathy due to pyruvate carboxylase deficiency Metabolic myopathy due to pyruvate dehydrogenase deficiency Metabolic myopathy due to very long-chain acyl-CoA dehydrogenase deficiency Metabolic myopathy with exercise intolerance Metabolic myopathy with recurrent rhabdomyolysis Metabolic myopathy, unspecified Metachondromatosis Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Rosenberg type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal anadysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metastases without primary tumor Metastatic vascular neoplasm Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methionine adenosyltransferase I/ III deficiency Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylenetetrahydrofolate dehydrogenase 1 deficiency Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic aciduria, intermediate type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to MMAA deficiency Methylmalonic aciduria due to MMAB deficiency Methylmalonic aciduria due to MMADHC deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria, cblD type Methylmalonic aciduria, cblH type Methylmalonic aciduria, cblX type Methylmalonic aciduria, combined type Methylmalonic aciduria, isolated type Methylmalonic aciduria, neonatal type Methylmalonic aciduria, vitamin B12-responsive type Methylmalonyl-CoA epimerase deficiency Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA racemase deficiency Methylthioadenosine phosphorylase deficiency Metronidazole neurotoxicity Metronidazole-induced encephalopathy Mevalonate kinase deficiency Mevalonic aciduria Mevalonic aciduria, mild type Mevalonic aciduria, severe type Mexican type sialidosis Mianserin-induced agranulocytosis Micrencephaly Microangiopathic hemolytic anemia Microangiopathy, retinal Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic primordial dwarfism type I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type III Microcephalic osteodysplastic primordial dwarfism type IV Microcephaly with early-onset seizures and developmental delay Microcephaly with spastic quadriplegia Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 10 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 12 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 13 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 14 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 15 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 2 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 25 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 26 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 27 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 28 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 29 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 3 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 34 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 35 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 36 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 37 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 38 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 39 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 4 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 40 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 5 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 6 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 7 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 8 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 9 Microcephaly with or without chorioretinopathy, lymphoedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 16 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 17 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 18 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 19 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 20 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 21 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 22 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 23 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 24 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 30 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 31 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 32 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 33 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 41 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 42 Microcephaly with pontine and cerebellar hypoplasia Microcephaly with simplified gyral pattern Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-chorioretinopathy syndrome Microcephaly-corpus callosum agenesis-intellectual disability syndrome Microcephaly-deafness syndrome Microcephaly-epilepsy syndrome Microcephaly-eye anomalies syndrome Microcephaly-facial dysmorphism syndrome Microcephaly-hypogonadism syndrome Microcephaly-intellectual disability syndrome, autosomal recessive type Microcephaly-lissencephaly syndrome Microcephaly-micromelia syndrome Microcephaly-seizures syndrome Microcephaly-short stature syndrome Microcephaly-simplified gyral pattern-epilepsy syndrome Microcephaly-spastic diplegia syndrome Microcephaly-spastic quadriplegia syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-spasticity syndrome Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic lymphatic malformation Microcystic infiltrating lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdeletion of the AZF region on the Y chromosome Microdontia-type I microtiadeafness syndrome Microduplication Xp11.22p11.23 syndrome Microduplication 17p12 Microform holoprosencephaly Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-motor delaylanguage delay-brain anomaliesdiaphragmatic hernia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microscopic polyangiitis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 syndrome Microvenular haemangioma Microvillus inclusion disease Micturation-induced seizures Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Midline cerebral malformation Midline cervical cleft Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mikati-Najjar-Sahli syndrome Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller Fisher syndrome Mills syndrome Milroy disease Minimal change nephropathy Minimal pigment oculocutaneous albinism type 1 MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome Mirizzi syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror-image polydactyly Miscarriage Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA MiT family translocation renal cell carcinoma Mitchell Syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial Disorder Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy- aminoacidopathy syndrome Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathycerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a largescale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial short-chain enoylCoA hydratase 1 deficiency Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral regurgitation-deafnessskeletal anomalies syndrome Mitral atresia Mitral Regurgitation Mitral Stenosis Mitral valve agenesis Mitral Valve Insufficiency Mitral Valve Prolapse Mitten hand Mixed autoinflammatory and autoimmune syndrome Mixed functioning pituitary adenoma Mixed AIHA Mixed connective-tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and nonneuroendocrine neoplasm of pancreas Mixed phenotype acute leukemia with t(9;22)(q34;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia, B/myeloid, NOS Mixed phenotype acute leukemia, T/myeloid, NOS Mixed polyposis syndrome Mixed-type autoimmune hemolytic anemia MKKS-related Bardet-Biedl syndrome MKS1-related Joubert syndrome MKS1-related Meckel syndrome MKX deficiency MLASA syndrome due to mitochondrial tyrosyl-tRNA synthetase deficiency MLASA syndrome due to pseudouridine synthase deficiency MLASA syndrome MMAA-related methylmalonic aciduria MMAB-related methylmalonic aciduria MMACHC-related methylmalonic aciduria with homocystinuria MMADHC-related methylmalonic aciduria with homocystinuria MMAF MME-related axonal neuropathy MME-related late-onset CharcotMarie-Tooth disease MMIHS MMIHS with congenital mydriasis MMN MNGIE syndrome Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MOGS-CDG Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptinmelanocortin pathway anomaly Monogenic SRNS Monomelic amyotrophy Monomorphic epitheliotropic intestinal T-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q Monosomy 11q23 deletion syndrome Monosomy 12p Monosomy 13q Monosomy 14q11.2 Monosomy 14q22q23 Monosomy 14q32 Monosomy 15q Monosomy 16p13.3 Monosomy 16q Monosomy 17p Monosomy 17p13.3 Monosomy 17q Monosomy 18p Monosomy 18q Monosomy 19p13.3 Monosomy 19q13 Monosomy 20p Monosomy 20q Monosomy 21q Monosomy 22q11.2 Monosomy 22q13 Monosomy X Monosomy X mosaicism Monosomy Xp Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan syndrome Mosaic genome-wide paternal uniparental disomy syndrome Mosaic paternal uniparental disomy of chromosome 11 Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 Mosaic variegated aneuploidy syndrome type 2 Mosaic Legius syndrome Mosaic monosomy X syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic schwannomatosis Mosaic trisomy 1 syndrome Mosaic trisomy 10 syndrome Mosaic trisomy 12 syndrome Mosaic trisomy 14 syndrome Mosaic trisomy 15 syndrome Mosaic trisomy 16 syndrome Mosaic trisomy 17 syndrome Mosaic trisomy 18 syndrome Mosaic trisomy 19 syndrome Mosaic trisomy 2 syndrome Mosaic trisomy 20 syndrome Mosaic trisomy 21 syndrome Mosaic trisomy 22 syndrome Mosaic trisomy 3 syndrome Mosaic trisomy 4 syndrome Mosaic trisomy 5 syndrome Mosaic trisomy 6 syndrome Mosaic trisomy 7 syndrome Mosaic trisomy 8 syndrome Mosaic trisomy 9 syndrome Mosaic trisomy X syndrome Mosaic trisomy Y syndrome Mosaicism with genome instability syndrome Motor Neuron Disease Mounier-Kuhn syndrome Mowat-Wilson syndrome Moyamoya angiopathy, idiopathic Moyamoya disease Moyamoya Disease Moyamoya disease with earlyonset achalasia Moynahan syndrome MPDU1-CDG MPI-CDG MRCS syndrome MSH3-related polyposis MT-ATP6-related mitochondrial spastic paraplegia MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Mu-heavy chain disease MUC1-related autosomal dominant tubulointerstitial kidney disease Mucinous adenocarcinoma of ovary Mucinous cystadenoma of childhood Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous venous malformations Mucocutaneous Candidiasis Mucolipidosis Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 10 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type IS Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucormycosis Mucosa-associated lymphoid tissue lymphoma Mucosulfatidosis Mucous membrane pemphigoid Mudd's disease Mueller-Weiss syndrome Mulibrey nanism Mullerian Duct Aplasia Multicentric carpotarsal osteolysis syndrome Multicentric Castleman disease Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic Dysplastic Kidney Multifocal papillary thyroid carcinoma Multifocal superficial thrombophlebitis Multifocal atrial tachycardia Multifocal epithelial hyperplasia Multifocal fibrosclerosis Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal osteomyelitis, chronic recurrent Multifocal renal cell carcinoma Multifocal skeletal tuberculosis Multifocal vascular malformations syndrome Multifocal ventricular arrhythmia Multiglandular parathyroid disease Multiminicore disease Multinodular and vacuolating neuronal tumor Multinodular goiter Multiple congenital anomalieshypotonia-seizures syndrome Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasiamacrocephaly-facial dysmorphism syndrome Multiple epiphyseal dysplasiaminiepiphyses syndrome Multiple epiphyseal dysplasiasevere proximal femoral dysplasia syndrome Multiple isolated café-au-lait syndrome Multiple keratoacanthoma, Ferguson-Smith type Multiple mtDNA deletion syndrome Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium-malignant hyperthermia syndrome Multiple self-healing squamous epithelioma Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple acyl-CoA dehydrogenase deficiency Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 7 Multiple evanescent white dot syndrome Multiple glomus tumors Multiple hamartoma syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism congenital heart defects syndrome Multiple keratoacanthoma Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple ossifying fibroma Multiple pterygium syndrome Multiple sclerosis variant Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple venous malformations (Bean syndrome) Multisystem inflammatory syndrome in children and adults Multisystem Langerhans cell histiocytosis Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Muscle enolase deficiency Muscle filaminopathy Muscle glycogen storage disease due to phosphoglucomutase deficiency Muscle glycogen storage disease with exercise intolerance Muscle LIM protein deficiency Muscle phosphofructokinase deficiency Muscle phosphoglycerate kinase deficiency Muscle phosphoglycerate mutase deficiency Muscle weakness-intellectual disability syndrome Muscle weakness-ocular abnormalities syndrome Muscle-eye-brain disease Muscle-eye-brain disease with cerebellar cysts Muscle-eye-brain disease with cobblestone lissencephaly Muscle-type phosphofructokinase deficiency Muscular dystrophy, Duchenne type Muscular dystrophy, EmeryDreifuss type Muscular dystrophy, oculopharyngeal type Muscular dystrophy, Becker type Muscular dystrophy, limb-girdle type Muscular dystrophy-dystroglycanopathy type A Muscular dystrophy-dystroglycanopathy type B Muscular dystrophy-dystroglycanopathy type C Muscular dystrophy-dystroglycanopathy type D Muscular dystrophy-dystroglycanopathy type E Muscular dystrophy-dystroglycanopathy type F Muscular dystrophy-dystroglycanopathy type G Muscular dystrophy-dystroglycanopathy type H Muscular dystrophy-dystroglycanopathy type I Muscular dystrophy-dystroglycanopathy type J Muscular dystrophy-dystroglycanopathy type K Muscular dystrophy-dystroglycanopathy type L Muscular dystrophy-dystroglycanopathy type M Muscular dystrophy-dystroglycanopathy type N Muscular dystrophy-dystroglycanopathy type O Muscular dystrophy-dystroglycanopathy type P Muscular dystrophy-dystroglycanopathy type Q Muscular dystrophy-dystroglycanopathy type R Muscular dystrophy-dystroglycanopathy type S Muscular dystrophy-dystroglycanopathy type T Muscular dystrophy-dystroglycanopathy type U Muscular dystrophy-dystroglycanopathy type V Muscular dystrophy-dystroglycanopathy type W Muscular dystrophy-dystroglycanopathy type X Muscular dystrophy-dystroglycanopathy type Y Muscular dystrophy-dystroglycanopathy type Z Muscular hypertrophy hepatomegaly-polyhydramnios syndrome Muscular hypotonia-intellectual disability syndrome Muscular pseudohypertrophy hypothyroidism syndrome Musculoskeletal dysplasia with retinal degeneration Musculoskeletal-pulmonary insufficiency syndrome Mutase deficiency, methylmalonylCoA Myasthenia gravis, neonatal transient Myasthenia gravis with thymoma Myasthenia gravis, autoimmune Myasthenia gravis, seronegative Myasthenic syndrome due to acetylcholine receptor deficiency Myasthenic syndrome due to DOK7 deficiency Myasthenic syndrome due to MuSK deficiency Myasthenic syndrome due to rapsyn deficiency Myasthenic syndrome, congenital Myasthenic syndrome, congenital with episodic apnea Myasthenic syndrome, congenital with fast-channel defect Myasthenic syndrome, congenital with slow-channel defect MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterial cutaneous infection Mycobacterial lymphadenitis Mycobacterial osteomyelitis Mycobacterium avium complex infection Mycobacterium abscessus infection Mycobacterium kansasii infection Mycobacterium marinum infection Mycophenolate mofetil embryopathy Mycophenolate-induced colitis Mycoplasma encephalitis Mycoplasma pneumoniae infection Mycoplasma-associated encephalitis Mycosis fungoides with folliculotropism Mycosis fungoides Mycosis fungoides Mycosis fungoides and variants Mycosis fungoides, Alibert-Bazin type Mycosis fungoides, erythrodermic type Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelic limited dorsal malformation Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelitis Myelocerebellar disorder Myelocystocele Myelodysplasia-infection restriction of growth-adrenal hypoplasiagenital anomalies-enteropathy syndrome Myelodysplastic neoplasm with increased blasts Myelodysplastic neoplasm with increased blasts type 1 Myelodysplastic neoplasm with increased blasts type 2 Myelodysplastic neoplasm with low blasts Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic Syndrome Myelodysplastic/ myeloproliferative disease Myeloid hemopathy Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative Disease Myeloproliferative neoplasm Myeloschisis MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myiasis MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myocardial Fibrosis Myocardial Infarction Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy of infancy Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-rimmed vacuoles type 13 Myofibrillar myopathy-titinopathy Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopathy with rimmed ubiquitin-positive autophagic vacuolation Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency Myosclerosis Myosin storage myopathy Myositis tropicans Myospherulosis Myotilinopathy Myotonia fluctuans Myotonia permanens Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 MYRF-related cardiac urogenital syndrome MYSM1 deficiency MYT1L-associated neurodevelopmental disorder MYT1L-related developmental delay-intellectual disability-obesity syndrome Myxofibrosarcoma Myxoid leiomyosarcoma Myxoid malignant fibrous histiocytoma Myxoid neurofibroma Myxoid pleomorphic liposarcoma Myxoid solitary fibrous tumor Myxoid/round cell liposarcoma Myxoinflammatory fibroblastic sarcoma Myxoma of heart Myxoma with fibrous dysplasia Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxomatous mitral valve disease Myxomatous tumor syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1-phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency N-methyl-D-aspartate receptor encephalitis Na channel myasthenia Na-H exchanger 3 deficiency Nabais Sa-de Vries type 1 syndrome Nabais Sa-de Vries type 2 syndrome Nablus mask-like facial syndrome NAD(P)HX dehydratase deficiency NAD(P)HX epimerase deficiency Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAGA deficiency Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail anomaly Nail-patella syndrome Nail-patella-like renal disease Naito-Oyanagi disease Nakagawa angioblastoma Nakamura-Osame syndrome Nance-Horan syndrome Nanophthalmos Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Narcissistic Personality Disorder Narcolepsy Narcolepsy type 1 Narcolepsy type 2 NARP syndrome Nasal dermoid sinus cyst Nasal dorsum fistula Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NCKAP1L-associated hyperinflammatory disorder NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiosis lipoidica Necrobiotic xanthogranuloma Necrolytic acral erythema Necrolytic Migratory Erythema Necrotizing autoimmune myositis Necrotizing cellulitis Necrotizing enterocolitis Necrotizing fasciitis Necrotizing myositis Necrotizing soft tissue infection NEDMABA disorder NEK9-related lethal skeletal dysplasia Nelson syndrome Nemaline myopathy NEMO deleted exon 5 autoinflammatory syndrome Neonatal acute respiratory distress due to surfactant protein deficiency Neonatal adrenoleukodystrophy Neonatal alloimmune neutropenia Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonatal compartment syndrome Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes mellitus Neonatal encephalomyopathy cardiomyopathy-respiratory distress syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Neonatal focal intestinal perforation Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal renal venous thrombosis Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal Volkmann ischemic contracture syndrome Neonatal-onset epilepsy syndrome Neonatal-onset multisystem inflammatory disease Neonatal-onset spinal arteriovenous fistula Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Neonate - Low Apgar Score Neonate - Post Term Neoplastic hypereosinophilic syndrome Nephritis Nephroblastoma Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephronophthisis Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathy-deafness hyperparathyroidism syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic Syndrome Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nestor-Guillermo progeria syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neural tube defect Neuralgic amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency Neuroacanthocytosis Neurocutaneous melanocytosis Neurocutaneous syndrome with epilepsy Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegeneration-spasticity cerebellar atrophy-cortical visual impairment syndrome Neurodegenerative disease with chorea Neurodegenerative disease with dementia Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Neurodevelopmental delaycongenital heart defects-intellectual disability syndrome Neurodevelopmental delayhypotonia-cerebellar ataxia-cardiac conduction defects syndrome Neurodevelopmental delayhypotonia-cerebellar atrophy-cardiac conduction defects syndrome Neurodevelopmental delayintellectual disability-ataxia-feeding difficulty syndrome Neurodevelopmental delayintellectual disability-skeletal defects syndrome Neurodevelopmental delayseizures-ophthalmic anomalies-osteopeniacerebellar atrophy syndrome Neurodevelopmental disorder due to KDM2B-CxxC domain mutation Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental disorder with hearing loss and spastic quadriplegia Neurodevelopmental disorder-slitlike lateral ventricles-intellectual disability syndrome Neurodevelopmental disorderbrain malformation-facial dysmorphismbrachydactyly syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defectskeletal anomalies syndrome Neurodevelopmental disorderhypotonia-stereotypic hand movementsimpaired language Neurodevelopmental disordermicrocephaly-arthrogryposis-structural brain anomalies Neurodevelopmental disorderspasticity-movement disorder-epileptic syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroendocrine carcinoma of pancreas Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm Neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of esophagus Neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of the colon Neuroendocrine neoplasm of the small intestine Neuroendocrine Tumor Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of small bowel Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroendocrine tumor with other location Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis schwannomatosis Neurofibromatosis type 1 Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia-retinitis pigmentosa syndrome Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurological channelopathy due to genetic calcium channel defect Neurological channelopathy due to genetic chloride channel defect Neurological channelopathy due to genetic GABA receptor defect Neurological channelopathy due to genetic glycine receptor defect Neurological channelopathy due to genetic potassium channel defect Neurological channelopathy due to genetic sodium channel defect Neurological muscular channelopathy due to genetic calcium channel defect Neurological muscular channelopathy due to genetic chloride channel defect Neurological muscular channelopathy due to genetic potassium channel defect Neurological muscular channelopathy due to genetic ryanodine receptor defect Neurological muscular channelopathy due to genetic sodium channel defect Neurolymphomatosis Neurometabolic disease Neurometabolic disorder due to serine deficiency Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 1 Neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis type 11 Neuronal ceroid lipofuscinosis type 12 Neuronal ceroid lipofuscinosis type 13 Neuronal ceroid lipofuscinosis type 14 Neuronal ceroid lipofuscinosis type 2 Neuronal ceroid lipofuscinosis type 3 Neuronal ceroid lipofuscinosis type 4 Neuronal ceroid lipofuscinosis type 5 Neuronal ceroid lipofuscinosis type 6 Neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis type 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuronal tumor Neurooculocardiogenitourinary syndrome Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neuroretinitis Neurosensory deafness with dilated cardiomyopathy Neurotrophic keratitis Neurovascular malformation Neutral lipid storage disease Neutral lipid storage disease type M Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with severe cardiovascular involvement Neutropenia-monocytopenia deafness syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevoid basal cell carcinoma syndrome Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn Nevus sebaceus syndrome New-onset refractory status epilepticus Nezelof syndrome NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome NFAT5 haploinsufficiency NFKB1-related immune dysregulation NFU1 deficiency NGLY1 deficiency NHEJ1 deficiency Nicolaides-Baraitser syndrome Nicolau syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nipah encephalitis Nipah virus disease NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK/T-cell lymphoma NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease NMDA receptor encephalitis Nodal marginal zone B-cell lymphoma Nodal T-cell lymphoma with TFH phenotype Nodal T-follicular helper cell lymphoma, follicular type Nodal TFH lymphoma, follicular type Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular urticaria pigmentosa Noma NOMID syndrome Non-24-hour sleep-wake syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-alcoholic Fatty Liver Disease Non-amyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency Non-deforming osteogenesis imperfecta Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-dystrophic myopathy Non-epithelial cancer of ovary Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-fibrotic hypersensitivity pneumonitis Non-fluent variant primary progressive aphasia Non-functioning pancreatic neuroendocrine tumor Non-functioning paraganglioma Non-functioning pituitary adenoma Non-functioning welldifferentiated pancreatic neuroendocrine neoplasm Non-genetic central precocious puberty in male Non-hereditary degenerative ataxia Non-hereditary retinoblastoma Non-HFE-related hemochromatosis Non-histaminic angioedema Non-Hodgkin lymphoma Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-immune hydrops fetalis Non-infectious anterior uveitis Non-inflammatory peeling skin syndrome type A Non-inflammatory vasculopathy Non-insulinoma pancreatogenous hypoglycemia syndrome Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Langerhans cell histiocytosis Non-malignant non-cirrhotic portal vein thrombosis Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-paraneoplastic sensory ganglionopathy Non-paraneoplastic sensory neuronopathy Non-phenylketonuric non-BH4deficiency hyperphenylalaninemia Non-pneumonic Legionnaires disease Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive epilepsy and-or ataxia with myoclonus as a major feature Non-recovering obstetric brachial plexus lesion Non-rhizomelic chondrodysplasia punctata Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-severe combined immunodeficiency Non-specific autoimmune cerebellar ataxia Non-specific early-onset epileptic encephalopathy Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-specific syndromic intellectual disability Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic agammaglobulinemia Non-syndromic amelia Non-syndromic anal stenosis Non-syndromic anorectal malformation Non-syndromic anterior synostotic plagiocephaly Non-syndromic biliary atresia Non-syndromic brain malformation Non-syndromic central nervous system malformation Non-syndromic cloacal malformation Non-syndromic congenital bronchial anomaly Non-syndromic congenital bronchial atresia Non-syndromic congenital phagocyte functional defect Non-syndromic congenital sodium diarrhea Non-syndromic constitutional thrombocytopenia Non-syndromic craniosynostosis Non-syndromic dentinogenesis imperfecta Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation Non-syndromic esophageal malformation Non-syndromic gastrointestinal malformation Non-syndromic genetic hearing loss (DFNA/DFNB/DFNX) Non-syndromic heritable thoracic aortic disease Non-syndromic hypogammaglobulinemia Non-syndromic intercalary limb defect Non-syndromic intestinal malformation Non-syndromic joint formation defect Non-syndromic lambdoid craniosynostosis Non-syndromic limb hypoplasia Non-syndromic limb overgrowth Non-syndromic limb reduction defect Non-syndromic longitudinal limb defect Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic multiple suture synostosis Non-syndromic polydactyly Non-syndromic pontocerebellar hypoplasia Non-syndromic postaxial polydactyly Non-syndromic posterior hypospadias Non-syndromic preaxial polydactyly Non-syndromic renal tract malformation Non-syndromic reticular dysgenesis Non-syndromic retinal nonattachment Non-syndromic sagittal craniosynostosis Non-syndromic single suture synostosis Non-syndromic syndactyly Non-syndromic terminal transverse limb defect Non-syndromic thrombocytopenia Non-syndromic unicoronal craniosynostosis Non-syndromic urogenital tract malformation Non-syndromic uterovaginal malformation Non-syndromic vestibular fistula Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Non-terminal myelocystocele Non-transfusion dependent betathalassemia Non-transplant-related bronchiolitis obliterans Non-tuberculous mycobacterial extrapulmonary disease Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonmosaic Legius syndrome Nonmosaic neurofibromatosis type 1 Nonmosaic neurofibromatosis type 2-related schwannomatosis Nonmosaic schwannomatosis Nonne-Milroy lymphedema Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Norman-Landing disease Normomorphic sialidosis Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma NR1H4 deficiency NR4A2-related neurodevelopmental syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleepwake cycle disturbance NSD2-related syndrome NTHL1-related adenomatous polyposis NTHL1-related polyposis Nuclear factor kappa B subunit 1related immune dysregulation Nude/severe combined immunodeficiency Null cell pituitary adenoma Null pituitary adenoma Null syndrome NUT midline carcinoma O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia OAV spectrum Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to prohormone convertase I deficiency Obesity due to proopiomelanocortin deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidism cardiac hypertrophy-developmental delay syndrome Oblique facial cleft Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obsessive-Compulsive Disorder (OCD) Obstructed hemivagina and ipsilateral renal anomaly Obstructive Uropathy Occipital atretic cephalocele unusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Occult spina bifida Ochoa syndrome Ocular albinism Ocular albinism Nettleship-Falls type Ocular albinism type 1 Ocular albinism with late-onset sensorineural hearing loss Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cicatricial pemphigoid Ocular cystinosis Ocular motor apraxia, Cogan type Ocular siderosis Ocular surface squamous neoplasia Ocular-scoliotic Ehlers-Danlos syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital dysplasia Oculo-digito-esophageal-duodenal syndrome Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculoauricular syndrome Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocutaneous Albinism Oculocutaneous albinism Amish type Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type 8 Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd type Oculodentodigital syndrome Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculogastrointestinal neurodevelopmental syndrome Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia Oculoosteocutaneous syndrome Oculootodental syndrome Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculoskeletodental syndrome Oculotrichoanal syndrome Oculotrichodysplasia Odonto-onycho dysplasia alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digitopalmar syndrome Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome OEIS complex Oesophageal atresia Oesophageal Diverticuli Oesophageal Obstruction Oesophagitis Ofuji disease Ogden syndrome Oguchi disease Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohtahara syndrome Okamoto syndrome Okihiro syndrome Okur-Chung neurodevelopmental syndrome Olfactory neuroblastoma Oligoastrocytoma Oligocone trichromacy Oligodendroglioma Oligodontia Oligomeganephronia Oligophrenin-1 syndrome Oligosaccharidosis Oliver-McFarlane syndrome Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome Omenn syndrome Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophy imperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalomesenteric cyst Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine-Hirschsprung syndrome Onycho-digito-mammary syndrome Onychocytic matricoma Onychomatricoma Onychoosteodysplasia Oophoritis Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD spectrum disorder Open iniencephaly Open spina bifida Open spinal dysraphism Open spinal dysraphism with a myelomeningocele Open spinal dysraphism with a posterior meningocele Open split-cord malformation Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotonia ataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz BBB/G syndrome Opitz C trigonocephaly syndrome Opitz-Kaveggia syndrome Oppenheim dystonia Oppenheim-Urbach disease Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxia simultanagnosia syndrome Optic atrophy plus syndrome (Behr syndrome) Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-deafness polyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic disc pit Optic nerve edema-splenomegaly syndrome Optic pathway glioma Oral dysesthesia Oral submucous fibrosis Oral-facial-digital syndrome Oral-facial-digital syndrome Edwards type Oral-facial-digital syndrome Gabrielli type Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with short stature and brachymesophalangy Orbital Apex Syndrome Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Orbitofacial cleft Organoid nevus syndrome Orgasm-induced epilepsy Ormond disease Ornithine aminotransferase deficiency Ornithine carrier deficiency Ornithine decarboxylase deficiency Ornithosis Oroacral syndrome Orocraniodigital syndrome Orodynia Orofacial clefting syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Oromandibular dystonia Oromandibular-limb anomalies syndrome Oromandibular-limb hypogenesis syndrome Oropharyngeal teratoma Orotidylic decarboxylase deficiency Orthostatic intolerance due to NET deficiency Osebold-Remondini syndrome Osgood-Schlatter disease Osseous Ewing sarcoma Osseous-oculo-dental dysplasia Ossification anomalies psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoarthritis Osteoblastoma Osteochondritis dissecans and short stature Osteochondromuscular dystrophy Osteochondrosis of genetic origin Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta (Brittle bone disease) Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglophonic dwarfism Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelofibrosis Osteonecrosis Osteonecrosis Osteonecrosis of genetic origin Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia Osteopenia-intellectual disability sparse hair syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteopoikilosis Osteopoikilosis-short stature intellectual disability syndrome Osteoporosis Osteoporosis of pregnancy Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoradionecrosis of the mandible Osteosarcoma Osteosarcoma-limb anomalies erythroid macrocytosis syndrome Osteosclerosis Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis premature ovarian failure syndrome Osteosclerotic bone dysplasia Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome Otitis Externa Otitis Media Otodental dysplasia Otofaciocervical syndrome Otofaciocervical syndrome type 2 Otofaciocervical syndrome with thymic hypoplasia Otofaciocervical syndrome without thymic hypoplasia Otomandibular dysplasia Otoonychoperoneal syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian dysgerminoma Ovarian epithelial cancer Ovarian fibroma Ovarian fibrothecoma Ovarian germ cell cancer Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant epithelial tumor Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Mullerian tumor Ovarian malignant non-epithelial tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarioleukodystrophy Overgrowth obesity syndrome Overgrowth or tall stature syndrome with skeletal involvement Overgrowth syndrome Overgrowth syndrome with 2q37 translocation Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Overlap syndromes of autoimmune liver diseases Overlapping connective tissue disease Owren disease OXCT1 deficiency Oxoglutaric aciduria Oxoprolinuria due to oxoprolinase deficiency OXPHOS disease OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease with no known mechanism Oxysterol 7-alpha-hydroxylase deficiency Pancreatic Cysts Pancreatic Duct Obstruction Pancreatic Hyperplasia Pancreatic Neuroendocrine Tumour Pancreatitis Pancreatitis - Bacterial Parkinsonism Patent Ductus Arteriosus PCT - Type I Sporadic PCT - Type II Familial PCT - Type III PCT - Type IV Hepatoerythropoietic Porphyria PCT - Type V Toxic Porphyria Pellagra Pelvic Inflammatory Disease Peptic Ulcer Disease Pericardial Constriction Pericardial Effusion Pericarditis Peripheral Vascular Disease Peritoneal Mesothelial Tumour Peritonitis Pernicious Anaemia Perthes Disease Pfeiffer Syndrome Phaeochromocytoma Pituitary Tumour Pleural Aspergillosis Pleural Mesothelial Tumour Pleurisy Pleuritis Pneumonia Pneumonia - Aspiration Pneumonia - Bacterial Pneumonia - Haemorrhagic Pneumonia - Tuberculous Pneumonitis Pneumothorax Polyarteritis Nodosa Polycystic Ovary Syndrome Polymicrogyria Polymyalgia Rheumatica Polymyositis Polyneuritis Portal Hypertension Pott's Disease of the Spine Prader-Willi Syndrome Pre-Eclampsia Pregnancy - Cytomegalovirus Infection Premature Delivery Primary Acquired Sideroblastic Anaemia Primary Biliary Cirrhosis Primary hyperlipoproteinemia type III (Broad-beta disease) Primary Hypothyroidism Primary Small Intestinal Lymphoma - PSIL Progressive external ophthalmoplegia with riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome) Prolactinoma Prostatitis Protein Losing Enteropathy Pseudo-Obstruction Pseudomembranous Candidiasis Pseudotumour Cerebri Psoriasis Psoriatic arthropathy Pulmonary Artery Agenesis Pulmonary Artery Stenosis Pulmonary Disease - Obstructive Pulmonary Disease - Restrictive Pulmonary Embolus(i) Pulmonary Fibrosis Pulmonary Hypertension Pulmonary Interstitial Disease Pulmonary Oedema - Acute Pulmonary Regurgitation Pulmonary Valve Stenosis Pulmonary Vascular Thrombosis Purpura Fulminans Pyelonephritis Pyoarthrosis Radiculitis Radiculopathy RAEB in Transformation (RAEBIT) Ramsay Hunt Syndrome Refractory Anaemia Refractory Anaemia - Excess Blasts (RAEB) Refractory Anaemia - Ring Sideroblasts (RARS) Reiter's Syndrome Renal Abscess(es) Renal Agenesis Renal Artery Stenosis Renal Carcinoma Renal Cysts Renal Disease Renal Disease Renal Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Rickets Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Scapuloperoneal muscular dystrophy Scapuloperoneal myopathy, neurogenic type Scapuloperoneal spinal muscular atrophy Scapulothoracic dysostosis SCARF syndrome Scarring alopecia-short stature-craniofacial dysmorphism syndrome Schilder disease Schimke immuno-osseous dysplasia Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel phocomelia syndrome Schinzel syndrome Schinzel-Giedion syndrome Schizophrenia Schizophrenia Schmidt syndrome Schneckenbecken dysplasia Schnitzler syndrome Schoenlein-Henoch purpura Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Scleritis Scleroderma Scleroderma, diffuse cutaneous Scleroderma, limited cutaneous Scleromyxedema Sclerosing Cholangitis Sclerosing cholangitis, primary Sclerosing mesenteritis Sclerosing osteomyelitis Sclerosing peritonitis Sclerosing skin disorders, inherited Sclerosteosis Sclerotherapy-related complications Sclerotic fibroma SCN1A-related epileptic encephalopathy SCN2A-related epileptic encephalopathy SCN8A-related epileptic encephalopathy SCN9A-related congenital insensitivity to pain Scofield syndrome SCOT deficiency Scrotal calcinosis Scrotal elephantiasis Scrotal lymphedema Scrotal melanoma Scrotal squamous cell carcinoma Sea-blue histiocyte syndrome Sebaceous carcinoma Sebaceous hyperplasia, familial Sebaceous nevus of Jadassohn syndrome Seborrheic dermatitis Seckel syndrome Secondary Acquired Sideroblastic Anaemia Secondary hemophagocytic lymphohistiocytosis Secondary hyperoxaluria Secondary lymphedema Secondary myelofibrosis Secondary pulmonary hypertension Secondary sclerosing cholangitis Secondary Sjogren syndrome Secondary syphilis Secretory carcinoma of the breast Segawa syndrome Segmental neurofibromatosis Seip-Berardinelli congenital lipodystrophy Seizures, benign familial infantile Seizures, benign familial neonatal Seizures, benign familial neonatal-infantile Seizures, familial focal with variable foci Seizures, genetic epilepsy with febrile seizures plus Seizures, neonatal severe Seizures, progressive myoclonic epilepsy Seizures, reflex epilepsy Seizures, symptomatic focal epilepsy Selenoprotein deficiency disorder Selenoprotein N-related myopathy Self-healing collodion baby Self-healing squamous epithelioma SEMDCJL1-related skeletal dysplasia Semicircular canal dehiscence syndrome Seminoma Senear-Usher syndrome Sensory ataxic neuropathy Sensory neuropathy, hereditary Sensory processing disorder Septic arthritis Septic shock Septic Shock Septicaemia Septicaemia - Gram negative Septicemia Septo-optic dysplasia Septo-optic dysplasia spectrum Septo-optic pituitary dysplasia Serine biosynthesis defect Serine deficiency disorders Serotonin syndrome Serous cystadenoma of pancreas Serpiginous choroiditis Sertoli cell tumor Sertoli-Leydig cell tumor Serum amyloid A amyloidosis SeSAME syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Severe Combined Degeneration Severe combined immunodeficiency, T-B+ phenotype Severe combined immunodeficiency, T-B+NK+ phenotype Severe combined immunodeficiency, T-B+NK- phenotype Severe combined immunodeficiency, T-B- phenotype Severe combined immunodeficiency, T-B-NK+ phenotype Severe combined immunodeficiency, T-B-NK- phenotype Severe congenital neutropenia Severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to HAX1 deficiency Severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to VPS45 deficiency Severe cutaneous adverse drug reaction Severe developmental delay-epilepsy-short stature-deep set eyes syndrome Severe early-childhood-onset retinal dystrophy Severe fever with thrombocytopenia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome Severe megalencephaly-cortical malformation-capillary malformation syndrome Severe myoclonic epilepsy in infancy Severe neonatal episodic laryngospasm Severe neonatal-onset encephalopathy with microcephaly Severe persistent hyperinsulinemic hypoglycemia of infancy Severe skeletal dysplasia-intellectual disability-progeroid features syndrome Severe thrombocytopenia with Philadelphia chromosome-positive chronic myeloid leukemia Severe X-linked intellectual disability, Gustavson type Sezary Syndrome Shapiro syndrome Sharp syndrome Shashi-Pena syndrome Sheehan syndrome Sheldon-Hall syndrome Shiga toxin-associated hemolytic uremic syndrome Shigellosis Shin splints syndrome Shinzel-Giedion midface retraction syndrome Short QT syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short stature due to growth hormone deficiency Short stature with microcephaly and distinctive facies Short stature with pigmentary skin changes and skeletal anomalies Short stature with precocious puberty and dysmorphic features Short stature with speech delay and facial dysmorphism Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-facial dysmorphism-skeletal anomalies syndrome Short stature-hyperextensible joints-hernia-ocular depression-Rieger anomaly syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic nerve atrophy-Pelger-Huet anomaly syndrome Short stature-renal disease syndrome Short stature-skeletal anomalies-intellectual disability syndrome Short stature-slow hair growth-intellectual disability syndrome Short stature-valvular heart disease-characteristic facies syndrome Shoulder girdle myopathy Shprintzen syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg syndrome Sialadenitis, chronic recurrent Sialidosis Sialidosis type 1 Sialidosis type 2 Sicca syndrome Sickle cell disease with crisis Sickle cell-beta thalassemia Sideroblastic anemia Sideroblastic anemia, X-linked Siderosis, pulmonary SIDS Siegel syndrome Siemens syndrome Sifrim-Hitz-Weiss syndrome SIL1-related Marinesco-Sjögren syndrome Silver-Russell syndrome Simpson - Golabi - Behmel Syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinus histiocytosis with massive lymphadenopathy Sinus node dysfunction Sinus pericranii Sirenomelia SIRS Sjogren's Syndrome Sjögren syndrome with extraglandular involvement Sjögren syndrome with glandular involvement Sjögren syndrome, primary Sjögren syndrome, secondary Sjögren-Larsson syndrome Skeletal dysplasia with brachydactyly and joint laxity Skeletal dysplasia with microcephaly and intellectual disability Skeletal dysplasia-intellectual disability syndrome Skeletal muscle calcium channelopathy Skeletal muscle channelopathy Skeletal muscle chloride channelopathy Skeletal muscle potassium channelopathy Skeletal muscle ryanodine receptor channelopathy Skeletal muscle sodium channelopathy Skin - Squamous Cell Carcinoma Skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin peeling syndrome Skin peeling syndrome, acral type Skin peeling syndrome, generalized inflammatory type Skin peeling syndrome, generalized non-inflammatory type Skin peeling syndrome, localized type Skull base chordoma Skull dysplasia, familial Sleep Deprivation Slipped capital femoral epiphysis Slow channel congenital myasthenic syndrome Slow transit constipation SMARD1 Smith syndrome Smith-Magenis syndrome SMN1-related spinal muscular atrophy Smouldering multiple myeloma Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOFT syndrome Sotos syndrome type 2 Sotos syndrome type 3 Sotos-like syndrome Sowden syndrome Sparing syndrome Spastic ataxia Spastic paraplegia type 1 Spastic paraplegia type 10 Spastic paraplegia type 11 Spastic paraplegia type 12 Spastic paraplegia type 13 Spastic paraplegia type 14 Spastic paraplegia type 15 Spastic paraplegia type 16 Spastic paraplegia type 17 Spastic paraplegia type 18 Spastic paraplegia type 19 Spastic paraplegia type 2 Spastic paraplegia type 20 Spastic paraplegia type 21 Spastic paraplegia type 22 Spastic paraplegia type 23 Spastic paraplegia type 24 Spastic paraplegia type 25 Spastic paraplegia type 26 Spastic paraplegia type 27 Spastic paraplegia type 28 Spastic paraplegia type 29 Spastic paraplegia type 3 Spastic paraplegia type 30 Spastic paraplegia type 31 Spastic paraplegia type 32 Spastic paraplegia type 33 Spastic paraplegia type 34 Spastic paraplegia type 35 Spastic paraplegia type 36 Spastic paraplegia type 37 Spastic paraplegia type 38 Spastic paraplegia type 39 Spastic paraplegia type 4 Spastic paraplegia type 40 Spastic paraplegia type 41 Spastic paraplegia type 42 Spastic paraplegia type 43 Spastic paraplegia type 44 Spastic paraplegia type 45 Spastic paraplegia type 46 Spastic paraplegia type 47 Spastic paraplegia type 48 Spastic paraplegia type 49 Spastic paraplegia type 5 Spastic paraplegia type 50 Spastic paraplegia type 51 Spastic paraplegia type 52 Spastic paraplegia type 53 Spastic paraplegia type 54 Spastic paraplegia type 55 Spastic paraplegia type 56 Spastic paraplegia type 57 Spastic paraplegia type 58 Spastic paraplegia type 59 Spastic paraplegia type 6 Spastic paraplegia type 60 Spastic paraplegia type 61 Spastic paraplegia type 62 Spastic paraplegia type 63 Spastic paraplegia type 64 Spastic paraplegia type 65 Spastic paraplegia type 66 Spastic paraplegia type 67 Spastic paraplegia type 68 Spastic paraplegia type 69 Spastic paraplegia type 7 Spastic paraplegia type 70 Spastic paraplegia type 71 Spastic paraplegia type 72 Spastic paraplegia type 73 Spastic paraplegia type 74 Spastic paraplegia type 75 Spastic paraplegia type 76 Spastic paraplegia type 77 Spastic paraplegia type 78 Spastic paraplegia type 79 Spastic paraplegia type 8 Spastic paraplegia type 80 Spastic paraplegia type 81 Spastic paraplegia type 82 Spastic paraplegia type 83 Spastic paraplegia type 84 Spastic paraplegia type 85 Spastic paraplegia type 86 Spastic paraplegia type 87 Spastic paraplegia type 88 Spastic paraplegia type 89 Spastic paraplegia type 9 Spastic tetraplegia Spasticity with white matter abnormalities Spasticity, hereditary Spasticity-ataxia syndrome Spasticity-intellectual disability-seizures syndrome Spasticity-paraplegia-neuropathy syndrome Speckled lentiginous nevus syndrome Speech delay-intellectual disability syndrome Speech sound disorder Spherocytosis, hereditary Spherophakia Sphingolipidosis Sphingomyelin lipidosis Sphingomyelinase deficiency Spina bifida Spina bifida occulta Spinal and bulbar muscular atrophy Spinal arteriovenous malformation Spinal cord astrocytoma Spinal cord compression Spinal Cord Compression Spinal cord ependymoma Spinal cord injury Spinal cord ischemia Spinal cord malformation Spinal cord tumor Spinal dysraphism Spinal Epidural Abscess Spinal epidural lipomatosis Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, congenital with arthrogryposis Spinal muscular atrophy, distal Spinal muscular atrophy, distal hereditary motor neuropathy type Spinal muscular atrophy, juvenile Spinal muscular atrophy, non-5q type Spinal muscular atrophy, type 0 Spinal muscular atrophy, type 1 Spinal muscular atrophy, type 2 Spinal muscular atrophy, type 3 Spinal muscular atrophy, type 4 Spinal muscular atrophy, X-linked Spinal neurofibromatosis Spinal osteochondroma Spinal osteosarcoma Spinal paraganglioma Spinal schwannoma Spinal stenosis Spinal subdural hematoma Spinal subependymoma Spinal teratoma Spinal tuberculosis Spinal vascular malformation Spinal vascular tumor Spinalis muscle myopathy Spindle cell carcinoma Spindle cell hemangioma Spindle cell lipoma Spindle cell melanoma Spindle cell oncocytoma of the pituitary gland Spindle cell sarcoma Spine Abscess Spinocerebellar Ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 24 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27A Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 33 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 39 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 44 Spinocerebellar ataxia type 45 Spinocerebellar ataxia type 46 Spinocerebellar ataxia type 47 Spinocerebellar ataxia type 48 Spinocerebellar ataxia type 49 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 50 Spinocerebellar ataxia type 51 Spinocerebellar ataxia type 52 Spinocerebellar ataxia type 53 Spinocerebellar ataxia type 54 Spinocerebellar ataxia type 55 Spinocerebellar ataxia type 56 Spinocerebellar ataxia type 57 Spinocerebellar ataxia type 58 Spinocerebellar ataxia type 59 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 60 Spinocerebellar ataxia type 61 Spinocerebellar ataxia type 62 Spinocerebellar ataxia type 63 Spinocerebellar ataxia type 64 Spinocerebellar ataxia type 65 Spinocerebellar ataxia type 66 Spinocerebellar ataxia type 67 Spinocerebellar ataxia type 68 Spinocerebellar ataxia type 69 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 70 Spinocerebellar ataxia type 71 Spinocerebellar ataxia type 72 Spinocerebellar ataxia type 73 Spinocerebellar ataxia type 74 Spinocerebellar ataxia type 75 Spinocerebellar ataxia type 76 Spinocerebellar ataxia type 77 Spinocerebellar ataxia type 78 Spinocerebellar ataxia type 79 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 80 Spinocerebellar ataxia type 81 Spinocerebellar ataxia type 82 Spinocerebellar ataxia type 83 Spinocerebellar ataxia type 84 Spinocerebellar ataxia type 85 Spinocerebellar ataxia type 86 Spinocerebellar ataxia type 87 Spinocerebellar ataxia type 88 Spinocerebellar ataxia type 89 Spinocerebellar ataxia type 9 Spinocerebellar ataxia type 90 Spinocerebellar ataxia type 91 Spinocerebellar ataxia type 92 Spinocerebellar ataxia type 93 Spinocerebellar ataxia type 94 Spinocerebellar ataxia type 95 Spinocerebellar ataxia type 96 Spinocerebellar ataxia type 97 Spinocerebellar degeneration with peripheral neuropathy Spinocerebellar degeneration, autosomal dominant Spinocerebellar degeneration, autosomal recessive Spinocerebellar syndrome with epilepsy Spinocerebellar syndrome with pyramidal signs Spinocerebellar syndrome with retinal degeneration Spinocerebellar syndrome with sensorineural hearing loss Spinocerebellar syndrome with spasticity Spitz nevus Splenic abscess Splenic artery aneurysm Splenic cyst Splenic marginal zone lymphoma Splenic Rupture Splenic sequestration crisis Splenic vein thrombosis Splenomegaly with cytopenia syndrome Splenomegaly, hereditary Split hand/foot malformation Split hand/foot malformation type 1 Split hand/foot malformation type 2 Split hand/foot malformation type 3 Split hand/foot malformation type 4 Split hand/foot malformation type 5 Split hand/foot malformation type 6 Split hand/foot malformation type 7 Split hand/foot malformation type 8 Split hand/foot malformation with long bone deficiency Split hand/foot malformation with tibial aplasia Split notochord syndrome Splitting of the spinal cord Spondyloarthritis Spondyloarthritis associated with inflammatory bowel disease Spondyloarthritis, undifferentiated Spondyloarthropathy Spondyloarthropathy, axial Spondyloarthropathy, peripheral Spondylocostal dysostosis Spondylocostal dysostosis type 1 Spondylocostal dysostosis type 10 Spondylocostal dysostosis type 11 Spondylocostal dysostosis type 12 Spondylocostal dysostosis type 13 Spondylocostal dysostosis type 14 Spondylocostal dysostosis type 15 Spondylocostal dysostosis type 16 Spondylocostal dysostosis type 17 Spondylocostal dysostosis type 18 Spondylocostal dysostosis type 19 Spondylocostal dysostosis type 2 Spondylocostal dysostosis type 20 Spondylocostal dysostosis type 3 Spondylocostal dysostosis type 4 Spondylocostal dysostosis type 5 Spondylocostal dysostosis type 6 Spondylocostal dysostosis type 7 Spondylocostal dysostosis type 8 Spondylocostal dysostosis type 9 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, tarda X-linked Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia with cone-rod dystrophy Spondylometaphyseal dysplasia with dentinogenesis imperfecta Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, axial type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, filamin A type Spondylometaphyseal dysplasia, handigodu type Spondylometaphyseal dysplasia, Japanese type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, plasmalemma vesicle-associated protein type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, short limb type Spondylometaphyseal dysplasia, short limb-abnormal calcification type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, with corneal dystrophy Spondylometaphyseal dysplasia, with dentinogenesis imperfecta Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-corneal dystrophy syndrome Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondylothoracic dysostosis Spondylothoracic dysostosis, autosomal recessive Spongiform leukoencephalopathy with chronic euphoria Spontaneous Abortion Spontaneous coronary artery dissection Spontaneous intracranial hypotension Spontaneous periodic hypothermia Spontaneous pneumothorax Spontaneous splenic rupture Spotted fever rickettsiosis Sprengel deformity Sprinz-Nelson syndrome SPTLC1-related hereditary sensory and autonomic neuropathy SQUAMOS syndrome Squamous cell carcinoma of the conjunctiva Squamous cell carcinoma of the eyelid Squamous cell carcinoma of the lip Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the skin Squamous odontogenic tumor SRD5A3-congenital disorder of glycosylation SRSF2-related myelodysplastic syndrome SSADH deficiency SSPE Staphylococcal scalded skin syndrome Stargardt disease Stargardt disease type 1 Stargardt disease type 3 Starvation ketoacidosis Static encephalopathy Steatocystoma multiplex Steele-Richardson-Olszewski syndrome Steinert disease Stenosis of aqueduct of Sylvius Stenotrophomonas maltophilia infection Stensen duct obstruction Sterility - Female Sterility - Male Steroid-resistant nephrotic syndrome Steroid-sensitive nephrotic syndrome Stevens Johnson Syndrome Stevens-Johnson syndrome Stewart-Treves syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stiff skin syndrome Still disease, adult-onset Stomatin-deficient cryohydrocytosis Stomatocytosis, dehydrated hereditary Stomatocytosis, overhydrated hereditary Stormorken syndrome Stromme syndrome Sturge-Weber syndrome Stuve-Wiedemann syndrome Subacute Combined Degeneration of Cord Subacute sclerosing panencephalitis Subacute Sclerosing Panencephalitis - SSPE Subaortic stenosis, discrete Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical laminar heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal heterotopia Subependymal nodular heterotopia Subependymal nodules Subependymoma Subungual exostosis Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital Sudanophilic leukodystrophy Sudden infant death syndrome Sudden unexplained death in epilepsy Sudden unexplained nocturnal death syndrome Sulfite oxidase deficiency Sulfite Oxidase Deficiency Sulfite oxidase deficiency, isolated Sulfoglucuronosyl paragloboside ceramide lipidosis Sulfur amino acid metabolism disorder Superior mesenteric artery syndrome Superior Vena Caval Obstruction Supranuclear gaze palsy Supratentorial primitive neuroectodermal tumor Surfactant metabolism dysfunction, pulmonary Surfactant protein B deficiency Surfactant protein C deficiency Surfactant protein deficiency, congenital Susac syndrome Sweet syndrome Swyer syndrome Swyer-James-MacLeod syndrome Sydenham chorea Sydenham's Chorea Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal Symphalangism, proximal Synapsin-related neurodevelopmental disorder Syncope, catecholaminergic polymorphic ventricular tachycardia-related Syndromic craniosynostosis Syndromic deafness Syndromic intellectual disability Syndromic microphthalmia Syndromic obesity Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic outer canthal malposition Syndromic palpebral coloboma Syndromic recessive X-linked ichthyosis Syndromic renal or urinary tract malformation Syndromic respiratory or mediastinal malformation Syndromic retinal dystrophy Syndromic rod-cone dystrophy Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic telecanthus Syndromic urogenital tract malformation Syndromic uterovaginal malformation Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Syndromic vitreoretinopathy Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related arthrogryposis multiplex congenita SYNGAP1-related developmental and epileptic encephalopathy Syngnathia-cleft palate syndrome Syngnathia-multiple anomalies syndrome Synovial chondromatosis Synovial sarcoma Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synspondylism Syntelencephaly Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic autoimmune disease Systemic autoinflammatory disease due to NEMO exon 5 deletion Systemic candidiasis Systemic capillary leak syndrome Systemic disease with glomerulopathy as a major feature Systemic disease with skin involvement Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic karyomegaly Systemic Lupus Erythematosus Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic polyarteritis nodosa Systemic primary carnitine deficiency Systemic sarcoidosis (Boeck) Systemic Sclerosis Systemic sclerosis Systemic sclerosis sine scleroderma Systemic vasculitis associated with glomerulopathy T-cell acute lymphoblastic leukemia T-cell large granular lymphocyte leukemia T-cell non-Hodgkin lymphoma T-cell prolymphocytic leukemia Takotsubo cardiomyopathy Takotsubo cardiomyopathy (stress-induced cardiomyopathy) Talaromycosis (Talaromyces marneffei infection) TANGO2-related metabolic encephalopathy-arrhythmia syndrome TAR syndrome (thrombocytopenia-absent radius syndrome) TARP syndrome Tarui disease (glycogen storage disease type VII) Tatton-Brown-Rahman overgrowth syndrome Taussig-Bing syndrome TBCD TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome TCA cycle disorder TCF12-related syndromic craniosynostosis TCR-alpha-beta-positive T-cell deficiency TDO syndrome Teebi hypertelorism syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric fluid collections-intrapulmonary shunting syndrome Telangiectatic capillary malformation Telecanthus-hypertelorism-strabismus-pes cavus syndrome Telethonin-related limb-girdle muscular dystrophy R7 Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 13q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 5q Telomeric deletion 9p Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 1p36 Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric monosomy 3p Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temple-Baraitser syndrome Temporal arteritis (giant cell arteritis) Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal extramedullary conus spinal cord lipoma Terminal myelocystocele Terminal osseous dysplasia-pigmentary defects syndrome Terrien marginal degeneration Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessier number 7 facial cleft Testicular agenesis Testicular Dysgenesis Testicular germ cell tumor Testicular regression syndrome Testicular seminoma Testicular sex cord-stromal tumor TET3-related Beck-Fahrner syndrome Tetra X Tetraamelia-multiple malformations syndrome Tetragametic chimerism syndrome Tetrahydrobiopterin-responsive phenylketonuria Tetrahydrobiopterin-unresponsive phenylketonuria Tetramelic monodactyly Tetrasomy 11q24.1 Tetrasomy 15q26 Tetrasomy 18p syndrome Tetrasomy 21 syndrome Tetrasomy 5p syndrome Tetrasomy 9p syndrome Tetrasomy X syndrome Teunissen-Cremers syndrome TFE3-related neurodevelopmental disorder TFR2-related hemochromatosis TFRC-related combined immunodeficiency Thakker-Donnai syndrome Thalassaemia Intermedia Thalassaemia Major Thalassaemia Trait Thalidomide embryopathy Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia-cloverleaf skull syndrome Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder Theca steroid-producing cell tumor of ovary Theodore superior limbic keratoconjunctivitis Therapy-related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thickened earlobes-conductive hearing loss syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bones-dysmorphism syndrome Thinking epilepsy Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic malformation Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-fever renal insufficiency-organomegaly syndrome Thromboembolism Thrombomodulin-related bleeding disorder Thrombotic microangiopathy Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Thumb deformity-alopecia pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Thurston syndrome Thygeson superficial punctate keratitis Thymic carcinoma Thymic epithelial tumor Thymic neuroendocrine tumor Thymic Neuroendocrine Tumour Thymoma hypogammaglobulinemia syndrome Thyrocerebrorenal syndrome Thyroid Carcinoma Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid-renal-digital anomalies Thyroiditis Thyrotoxic periodic paralysis Thyrotoxicosis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial muscular dystrophy Tibiofibular diaphyseal toxopachyosteosis Tick-borne encephalitis Tietz syndrome Timothy syndrome Timothy syndrome type 1 Timothy syndrome type 2 TINU syndrome Titin-related limb-girdle muscular dystrophy R10 TJP2 deficit TKT deficiency TLK2-related neurodevelopmental disorder TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome TM2D3-related neurodevelopmental disorder TMEM147-related neurodevelopmental disorder TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Torpedo maculopathy Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tortuosity of retinal arteries Total color blindness Total early-onset cataract Touraine-Solente-Gole syndrome Townes syndrome Toxic dermatosis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic or drug-related embryofetopathy Toxic pustuloderma Toxin-mediated infectious botulism Toxocariasis Toxoplasma embryofetopathy TPHA TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay Traboulsi syndrome Tracheal agenesis Tracheal anomaly Tracheal atresia Tracheal Obstruction Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica TRAF7-associated heart defect-digital anomalies-facial dysmorphism syndrome Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient antenatal Bartter syndrome Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal TSH receptor-blocking antibodies Transient congenital hypothyroidism due to neonatal hyperthyrotropinemia Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient Ischaemic Attacks Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient predisposition to invasive pyogenic bacterial infection Transient pseudohypoaldosteronism Transient reactive papulotranslucent acrokeratoderma Transient tyrosinemia of the newborn Transition renal cell carcinoma Transitional atrioventricular canal defect Transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract Transitional PMD Transketolase deficiency Translocation renal cell carcinoma Transplacentally acquired neonatal autoimmune disease Transplant-related bronchiolitis obliterans Transposition of the great arteries Transposition of the great arteries and conotruncal heart defects Transverse facial cleft Transverse Myelitis Transverse vaginal septum TRAP sequence TRAPPC11-related limb-girdle muscular dystrophy R18 Traumatic avascular necrosis Traumatic AVN Traumatic myiasis TRDN-related isolated congenital Long QT syndrome Treacher-Collins syndrome Trehalase deficiency Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triatrial heart Trichinellosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichofolliculoma Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tricuspid Regurgitation Trigeminal autonomic cephalalgia Trigeminal neuralgia Trigeminal trophic syndrome Triglyceride deposit cardiomyovasculopathy Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Trilineage bone marrow failure-developmental delay syndrome TRIM22-related IBD TRIM22-related inflammatory bowel disease TRIM32-related limb-girdle muscular dystrophy R8 Trimethylaminuria Triophthalmia Triopia Triose phosphate-isomerase deficiency TRIP13-related Wilms tumor predisposition syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triple A syndrome Triple H syndrome Triple X Syndrome Triplication 15q25-qter Triplication 15q26 Triplo-X syndrome Triploidy syndrome Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 10 mosaicism Trisomy 10p syndrome Trisomy 12 mosaicism Trisomy 12p syndrome Trisomy 13 syndrome Trisomy 14 mosaicism Trisomy 15 mosaicism Trisomy 16 mosaicism Trisomy 17 mosaicism Trisomy 17p syndrome Trisomy 18 syndrome Trisomy 18p syndrome Trisomy 1q syndrome Trisomy 2 mosaicism Trisomy 20 mosaicism Trisomy 20p syndrome Trisomy 21 Trisomy 22 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism Trisomy 4p syndrome Trisomy 5 mosaicism Trisomy 5p syndrome Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 8p syndrome Trisomy 8q syndrome Trisomy 9 mosaicism Trisomy 9p syndrome Trisomy X syndrome Tritan colour blindness Tritanopia Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRPV4-related bone disorder True congenital pancreatic cyst True congenital shoulder dislocation True microcephaly True myelomeningocele True unicornuate uterus Truncus arteriosus Tsao-Ellingson syndrome TSC2/PKD1 contiguous gene syndrome TSH-secreting pituitary adenoma TSHZ3-related congenital anomalies of kidney-urinary tract syndrome Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever Tubal cancer Tuberculosis Tuberculosis of respiratory system Tuberous Sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tufted angioma Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor of cranial and spinal nerves Tumor of testis and paratestis Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tunnel subaortic stenosis Turban tumor syndrome Turner Syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turnpenny-Fry syndrome Twin anemia-polycythemia sequence Twin-reversed arterial perfusion sequence Twin-to-twin transfusion syndrome Tylosis with oesophageal cancer Tylosis-oesophageal carcinoma syndrome Type 1 galactosemia Type 1 interferonopathy Type 1 syndactyly-microcephaly-intellectual disability syndrome Type 2 galactosemia Type 3 galactosemia Type 4 galactosemia Type I OI Type II OI Type III OI Type IV OI Typhoidal salmonellosis Typical hemolytic uremic syndrome Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Ulcerative Colitis Undifferentiated Pleomorphic Sarcoma Unifocal Langerhans Cell Histiocytosis Uniparental Disomy Univentricular Heart Universal Melanosis Unroofed Coronary Sinus Unspecified Mitochondrial Disorder Upington Disease Upper Respiratory Tract Infections Upper Tract Urothelial Carcinoma Urachal Carcinoma Urachal Tumour Urbach-Wiethe Disease Urban-Rifkin-Davis Syndrome Urban-Rogers-Meyer Syndrome Urban-Schosser-Spohn Syndrome Ureter Carcinoma Uridine 5'-monophosphate hydrolase deficiency Uridine Monophosphate Synthetase Deficiency Urinary Tract Infection s Urioste Syndrome Urocanic Aciduria Urofacial Syndrome Urogenital Tuberculosis Urological Carcinoma Urothelial Carcinoma Urrets-Zavalia Syndrome Uterine Carcinosarcoma Uterine Malignant Mixed Mullerian Tumour UV-sensitive Syndrome Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveomeningitic Syndrome Vaccine-induced immune thrombotic thrombocytopenia VACTERL association VACTERL with hydrocephalus Vacuolar aggregate myopathy Vacuolar sorting protein 45 deficiency Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell tumor Valine metabolic defect Valproic acid embryopathy Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome Vanishing bone disease Vanishing testis syndrome Váradi syndrome Variable age-onset epilepsy syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant Creutzfeldt-Jakob disease Variant of Guillain-Barré syndrome Vascular Ehlers-Danlos polymicrogyria syndrome Vascular Ehlers-Danlos syndrome Vasculitis-autoinflammation immunodeficiency-hematologic defects syndrome Vasoproliferative tumor of the retina Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VCAN-related vitreoretinopathy Vegetant intravascular hemangioendothelioma Vegetative pyoderma gangrenosum VEGFC-related congenital primary lymphedema Vein of Galen arteriovenous malformation Velo-facial-skeletal syndrome Venezuelan hemorrhagic fever Venolymphatic malformation Venous malformation of the spleen Venous malformations with glomus cells Ventilator-induced diaphragmatic dysfunction Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Ventricular septal defect with aortic insufficiency Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verrucous venous malformation Very early-onset schizophrenia Vesicourachal diverticulum VEXAS syndrome Vibratory angioedema Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome Viral hemorrhagic fever Viral Infections Viral myositis Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral arteriovenous malformation Visceral calciphylaxis Visceral fibromuscular dysplasia Visceral heterotaxy Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visual snow syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Vitamin B6-dependent seizures Vitamin D-dependent rickets type I Vitamin D-dependent rickets type II Vitelliform macular dystrophy (Best vitelliform macular dystrophy) Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo Vitreoretinopathy Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease Volcke-Soekarman syndrome Von Meyenburg complexes disease Von Voss-Cherstvoy syndrome VPS11-related autosomal recessive hypomyelinating leukodystrophy VPS45 deficiency Vulto-van Silfout-de Vries syndrome Vulvar adenocarcinoma Vulvar basal cell carcinoma Vulvar carcinoma Vulvar intraepithelial neoplasia Vulvar squamous cell carcinoma Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease Västerbotten dystrophy Weill - Marchesani Syndrome West Syndrome ( Infantile Spasms ) Wilms Tumor Wilson's Disease Wolff-Parkinson-White Syndrome X Chromosome Number Anomaly Syndrome X Chromosome Number Anomaly with Female Phenotype Syndrome X Chromosome Number Anomaly with Male Phenotype Syndrome X-linked acqueductal stenosis X-linked Acrogigantism X-linked Adrenal Hypoplasia Congenita X-linked agammaglobulinemia (Bruton) X-linked AHC X-linked Alpha-thalassemia Intellectual Disability Syndrome X-linked Alport Syndrome X-linked Alport Syndrome-diffuse Leiomyomatosis X-linked Angelman-like Syndrome X-linked aqueductal stenosis X-linked aqueductal stenosis with hydrocephalus X-linked Ataxia-Deafness Syndrome X-linked ataxia-dementia syndrome X-linked ataxia-hearing loss syndrome X-linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 X-linked Autoinflammatory and Immunodeficiency Disease Associated with ELF4 X-linked Branchial Arch Syndrome X-linked bulbospinal muscular atrophy X-linked Calvarial Hyperostosis X-linked Cardioskeletal Myopathy and Neutropenia X-linked Central Congenital Hypothyroidism with Late-onset Macroorchidism X-linked Centronuclear Myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral degeneration syndrome X-linked cerebral-cerebellar degeneration syndrome X-linked Cerebral-Cerebellar-Coloboma Syndrome X-linked Charcot-Marie-Tooth Disease X-linked chondrodysplasia punctata type 2 X-linked Cleft Palate and Ankyloglossia X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital anemia neutropenia syndrome X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked Congenital Generalized Hypertrichosis X-linked corneal dermoid X-linked Creatine Transporter Deficiency X-linked Cutaneous Amyloidosis X-linked deafness syndrome X-linked deafness-intellectual disability syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal hereditary motor neuropathy type 3 X-linked distal myopathy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria X-linked dystonia syndrome X-linked Dystonia-Parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss Muscular Dystrophy X-linked Endothelial Corneal Dystrophy X-linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome X-linked Erythropoietic Protoporphyria X-linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome X-linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked Hearing Loss-Intellectual Disability Syndrome X-linked Hereditary Motor and Sensory Neuropathy X-linked hereditary neuropathy X-linked hereditary sensory and autonomic neuropathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked Hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked Hyper-IgM Syndrome X-linked Hypohidrotic Ectodermal Dysplasia X-linked Immune Dysregulation with Inflammatory Bowel Disease due to ELF4 Deficiency X-linked immunodeficiency syndrome X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia X-linked Immunoneurologic Disorder X-linked Incomplete Achromatopsia X-linked intellectual disability cardiomegaly-congestive heart failure syndrome X-linked intellectual disability cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability cubitus valgus-dysmorphism syndrome X-linked Intellectual Disability due to GRIA3 Mutations X-linked Intellectual Disability due to PQBP1 Mutations X-linked intellectual disability dysmorphism-cerebral atrophy syndrome X-linked intellectual disability epilepsy syndrome X-linked intellectual disability global developmental delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability gynecomastia-obesity syndrome X-linked intellectual disability hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability hypotonia-movement disorder syndrome X-linked intellectual disability limb spasticity-retinal dystrophy-arginine vasopressin deficiency X-linked intellectual disability microcephaly-cortical malformation-thin habitus syndrome X-linked intellectual disability microcephaly-testicular failure syndrome X-linked intellectual disability progressive joint contractures-dysmorphism syndrome X-linked intellectual disability psychosis-macroorchidism syndrome X-linked intellectual disability seizures syndrome X-linked intellectual disability syndrome X-linked Intellectual Disability Syndrome, Lubs Type X-linked Intellectual Disability with Isolated Growth Hormone Deficiency X-linked Intellectual Disability with Marfanoid Habitus X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome X-linked intellectual disability-dystonia-dysarthria syndrome X-linked intellectual disability-hypotonia syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked isolated growth hormone deficiency X-linked Juvenile Retinoschisis X-linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-linked Lethal Multiple Pterygium Syndrome X-linked lissencephaly type 1 X-linked Lissencephaly with Abnormal Genitalia X-linked Mandibulofacial Dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod Syndrome X-linked Mendelian Susceptibility to Mycobacterial Diseases X-linked microcephaly syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked Moesin-associated Immunodeficiency X-linked motor neuron disease X-linked Myopathy with Excessive Autophagy X-linked Myopathy with Postural Muscle Atrophy X-linked Myotubular Myopathy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked Neurodegenerative Syndrome, Bertini Type X-linked Neurodegenerative Syndrome, Hamel Type X-linked neurodevelopmental disorder X-linked Non Progressive Cerebellar Ataxia X-linked Non-syndromic Hearing Loss X-linked Non-syndromic Intellectual Disability X-linked Ohdo Syndrome X-linked Osteoporosis with Fractures X-linked parkinsonism X-linked Parkinsonism-Spasticity Syndrome X-linked peripheral neuropathy X-linked pigmentary disorder X-linked Progressive Cerebellar Ataxia X-linked progressive spastic paraplegia X-linked Pure Spastic Paraplegia X-linked Recessive Hypercalciuric Hypophosphatemic Rickets X-linked Recessive Nephrolithiasis X-linked Recessive Ocular Albinism X-linked Reticulate Pigmentary Disorder X-linked retinal dystrophy X-linked Scapuloperoneal Muscular Dystrophy X-linked scapuloperoneal syndrome X-linked Severe Congenital Neutropenia X-linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection X-linked Sideroblastic Anemia X-linked Sideroblastic Anemia with Ataxia X-linked sideroblastic anemia with spinocerebellar ataxia X-linked skeletal dysplasia X-linked Skeletal Dysplasia-Intellectual Disability Syndrome X-linked spastic paraplegia X-linked Spastic Paraplegia Type 16 X-linked Spastic Paraplegia Type 2 X-linked Spastic Paraplegia Type 34 X-linked spasticity syndrome X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome X-linked Spinal and Bulbar Muscular Atrophy X-linked spinal muscular atrophy type 2 X-linked Spinal Muscular Atrophy with Respiratory Distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type X-linked thrombocytopenia X-linked thrombocytopenia syndrome X-linked thrombocytopenia with normal platelets X-linked vascular malformation syndrome Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Xia-Gibbs syndrome XIAP deficiency syndrome XK aprosencephaly syndrome XK syndrome Xp deletion syndrome Xp21 contiguous gene deletion syndrome Xp21 deletion syndrome Xp21 microdeletion syndrome Xp22.13-p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq duplication syndrome Xq12-q13.3 duplication syndrome Xq21 microdeletion syndrome Xq22.3 microdeletion syndrome Xq25 microduplication syndrome Xq25 microtriplication Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome XX, male syndrome XXX syndrome XY gonadal agenesis syndrome XY sex reversal-adrenal failure XY type gonadal dysgenesis-associated anomalies syndrome Xylitol dehydrogenase deficiency XYLT1-CDG XYY Syndrome	Choose Sign
1-alpha-hydroxylase deficiency 10p12p11 microdeletion syndrome 10p13-p14 deletion syndrome 10p15.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11-beta-hydroxysteroid dehydrogenase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 11p11.2 deletion syndrome 11p15.4 microduplication syndrome 11q terminal deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21 microdeletion syndrome 12q24.31 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q22 deletion syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 17q24.2 microdeletion syndrome 18p deletion syndrome 18q deletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1p36.33 duplication syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11.2 deletion syndrome (Velocardiofacial syndrome) 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2A syndrome 2p13.2 microdeletion syndrome 2p14p15 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 contiguous gene deletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2p25.3 microduplication syndrome 2q13 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q31.1 microdeletion syndrome 2q32q33 deletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-M syndrome 3-mercaptopyruvate sulfurtransferase deficiency 3-methylglutaconic aciduria 3-methylglutaconic aciduria epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic aciduria neonatal cataract-neurologic involvement congenital neutropenia syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3MC syndrome 3MG-CoA hydratase deficiency 3p deletion syndrome 3q subtelomere deletion syndrome 3q13 microdeletion syndrome 3q23 microdeletion syndrome 3q26 microduplication syndrome 3q27.1 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microduplication syndrome 3qter deletion syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 45,X/46,XX mosaicism 45,X/46,XX syndrome 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgen excess 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone resistance 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to maternal exposure to endocrine disruptors 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial luteinizing hormone resistance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development due to testosterone synthesis defect 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Abortion - Spontaneous Abruptio Placentae Achlorhydria Acrocephalopolysyndactyly type III (Bixler-Christian-Gorlin syndrome) Acromegaly Actinic lichen planus Acute Myeloid Leukaemia Addison's Disease Adult Still's Disease AIDS Allergic Bronchopulmonary Disease Allergic Reactions Allergic Rhinitis Alpha 1-Antitrypsin Deficiency Alpha Thalassaemia Carrier Alpha Thalassaemia Trait Amyloidosis Anaemia Anaemia - Aplastic Anaphylactoid Reaction - Severe Anencephaly Ankylosing Spondylitis Antley-Bixler Syndrome Aortic Aneurysm Aortic Coarctation Aortic Dilatation Aortic Dissection Aortic Regurgitation Aortic Rupture Aortic Stenosis Aortic Valve Insufficiency Aphasia - Progressive Nonfluent Appendicitis Arteriosclerosis Arthritis Asthma Atelactasis Atrial Septal Defect Atrophic Gastritis Attention Deficit Hyperactivity Disorder (ADHD) Autism B-ALL with t(9;22)(q34.1;q11.2) B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and T-cell anergy disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell lymphoma B-cell NHL B-cell non-Hodgkin lymphoma B-cell prolymphocytic leukemia B-K mole syndrome B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); KMT2A rearranged B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome B4GALT1-CDG B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BACH2-related immunodeficiencyautoimmunity syndrome Bachmann-Bupp syndrome Bacteriaemia Bacterial myositis Bacterial toxic shock syndrome Bader syndrome BAG3-related myofibrillar myopathy Bahemuka-Brown syndrome Bailey-Bloch congenital myopathy Bainbridge-Ropers syndrome Baird syndrome Baker-Gordon syndrome Bakrania-Ragge syndrome Balanced complete atrioventricular canal Balanced partial atrioventricular canal Balantidiasis Balint syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth-Lazarus syndrome Band-like calcification with simplified gyration and polymicrogyria Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Baralle-Macken syndrome Barber-Say syndrome Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome type 2 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome type 5 Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Bartsocas-Papas syndrome Bartter Syndrome Bartter syndrome type 1 Bartter syndrome type 2 Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome with sensorineural hearing loss Basal Cell Carcinoma Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan-Baird syndrome Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Smirin-Yosef syndrome BASIL syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Baughman syndrome Bazex-Dupré-Christol syndrome BCAS3-related neurodevelopmental disorder BCL11B-related neurodevelopmental disorder BCR-ABL1-like B-ALL Beaulieu-Boycott-Innes syndrome Beck-Fahrner syndrome Becker dystrophinopathy Beckwith - Wiedemann Syndrome Bedouin spastic ataxia syndrome Behavioral variant frontotemporal dementia Behcets Syndrome Bell's Palsy Bellini carcinoma Bellini duct carcinoma Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonus epilepsy Benign atrophic papulosis Benign cephalic histiocytosis Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus Benign congenital sixth cranial nerve palsy Benign familial chorea Benign familial infantile epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign hyperferritinemia Benign intracranial hypertension Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign nocturnal alternating hemiplegia of childhood Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 (BRIC2) Bennion-Patterson syndrome Benson syndrome Bent bone dysplasia BENTA disease Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Bernard-Soulier syndrome Berti lymphoma Berylliosis Best macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycan-related limb-girdle muscular dystrophy Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Beta2-microglobulinic amyloidosis Bethlem muscular dystrophy Beukes familial hip dysplasia BH4-responsive phenylketonuria BH4-unresponsive phenylketonuria BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bicervical bicornuate uterus Bickers-Adams syndrome Bickerstaff brainstem encephalitis Biemond syndrome Bietti crystalline dystrophy Bifid femur-monodactylous ectrodactyly syndrome Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria Bilateral striopallidodentate calcinosis Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Biliary Cirrhosis Biliary cystadenocarcinoma Biliary hamartoma Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-induced neurological dysfunction Binder syndrome Biochemical variant galactosemia Biotin-responsive basal ganglia disease Biparietal Alzheimer disease Bipartite talus Bipolar Disorder Birdshot chorioretinopathy Birk-Barel syndrome Bitemporal aplasia cutis congenita Björnstad syndrome Bladder Carcinoma - Squamous Cell Bladder pain syndrome Blake pouch cyst Blakemore-Durmaz-Vasileiou syndrome Blastic plasmacytoid dendritic cell neoplasm Blau syndrome Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to CalDAG-GEFI deficiency Bleeding disorder due to P2Y12 defect Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosis epicanthus inversus syndrome plus (BPES plus) Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-telecanthus-microstomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Blood Vessel Rupture Blount disease Blue colour blindness Blue cone monochromacy Blue diaper syndrome Blue rubber bleb nevus Bockenheimer syndrome Body cavity-based lymphoma Body integrity dysphoria Body integrity identity disorder Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body stalk anomaly Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia-medullary fibrosarcoma syndrome Bone filaminopathy Bone fragility-contractures-arterial rupture-hearing loss syndrome Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Bone marrow failure-diabetes mellitus syndrome Bone necrosis Bone necrosis of genetic origin Bone sarcoma Bonneau syndrome Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borderline vascular neoplasm Borderline vascular tumor Borna virus encephalitis Bornholm eye disease Borrmann gastric cancer type 4 Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Boucher-Neuhäuser syndrome Bowel Obstruction Bowel Rupture Bowen-Conradi syndrome Boyadjiev-Jabs syndrome BPES type 1 BPES type 2 BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Brachial plexus neuritis Brachmann-de Lange syndrome Brachmann-de Lange syndrome type 1 Brachmann-de Lange syndrome type 2 Brachmann-de Lange syndrome type 3 Brachmann-de Lange syndrome type 4 Brachmann-de Lange syndrome type 5 Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B1 Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly, Farabee type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia intellectual disability-heart defects syndrome Brachydactyly-nystagmus cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Bradykinin-induced angioedema Bradyopsia Brailsford disease Brain abnormalities neurodegeneration-dysosteosclerosis disease Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain Abscess Brain Agenesis Brain arteriovenous malformation, nidus type Brain calcification, Rajab type Brain cortical dysplasia Brain dopamine-serotonin vesicular transport disease Brain inflammatory disease Brain malformation due to abnormal neuronal migration Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain Stem Syndrome Brain-lung-thyroid syndrome Branch pulmonary artery stenosis Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial arch or oral-acral syndrome Branchial arch syndrome Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiogenic hearing loss syndrome Branchiootic syndrome Branchiootorenal spectrum disorder Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever Brazilian pemphigus BRE syndrome Breast implant-associated ALCL Breast implant-associated anaplastic large cell lymphoma BRESEK syndrome Bresheck syndrome BRIC BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle cornea syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Brock s Syndrome Brodie abscess Brodie myopathy Brody myopathy Bronchial malformation Bronchial NET Bronchial neuroendocrine tumor Bronchial Obstruction Bronchiectasis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia syndrome Bronchiolitis obliterans syndrome Bronchitis Bronchoesophageal Fistula Bronchogenic carcinoma Bronchopneumonia Bronchopulmonary sequestration Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Sequard's Syndrome BRPF1-related neurodevelopmental disorder Brucella melitensis infection Brucella suis infection Bruck syndrome Brugada Syndrome Brugada syndrome type 1 Brugada syndrome type 2 Brugada syndrome type 3 Brunner syndrome Brunner syndrome type 1 Brunner syndrome type 2 Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Bruton agammaglobulinemia BSEP deficiency Buckley syndrome Budd-Chiari Syndrome Budd-Chiari-like syndrome Buerger-like disease Bulbar Paralysis Bulbospinal muscular atrophy Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous dermolysis of the newborn Bullous diffuse cutaneous mastocytosis Bullous impetigo Bullous lichen planus Bullous pyoderma gangrenosum Bullous systemic lupus erythematosus Buphthalmia Buphthalmos Buphthalmus Burkholderia mallei infection Burkholderia pseudomallei infection Burkitt s Lymphoma Burkitt-like lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff-like syndrome Butterfly vertebrae syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome BWS due to imprinting defect of 11p15 BWS due to paternal uniparental disomy of chromosome 11 Byler disease Byler-like disease Böök syndrome Cancer - Oesophagus Caplan's Syndrome Carcinoma Cardiac Amyloidosis Cardiac Failure Cardiomyopathy Cardiovascular Disease Carnitine palmitoyltransferase I deficiency Carpal Tunnel Syndrome Central Core Disease Cerebral Atrophy Cerebral Haemorrhage Cerebral Infarction Cerebral Palsy Cerebral Vein Thrombosis Cerebritis Cerebrovascular Accident Cervical Lymphadenitis CHARGE Syndrome Cholecystitis Choledochal Cyst Cholestasis Chronic Hepatitis Chronic Myelomonocytic Leukaemia (CMML) Chronic traumatic encephalopathy (Boxer's dementia) Cirrhosis Cleft Lip Cleft Palate CNS - Demyelinating Lesions CNS Haemangioblastoma CNS Parenchymal Disease Coagulopathy Coeliac Disease Colitis Collagen-vascular Diseases Colon - Amoeboma Colon - Obstruction Colon - Perforation Colon - Stricture Colon - Toxic Dilatation Colon - Volvulus Colorectal Cancer Common Bile Duct Obstruction Congenital contractural arachnodactyly (Beals syndrome) Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome type 1, BSCL type 1) Congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome type 2, BSCL type 2) Congenital generalized lipodystrophy type 3 (Berardinelli-Seip syndrome type 3, BSCL type 3) Congenital generalized lipodystrophy type 4, BSCL type 4 Congenital Heart Defect Congenital lipoid adrenal hyperplasia due to STAR deficiency Congestive Cardiac Failure COPD Cor Pulmonale Cord Compression Crohn Disease Crouzon Syndrome CRST Syndrome Cushing's Syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cyclocephaly Cystic Fibrosis Cystic transformation of pancreatic acini D+ HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria Da Silva syndrome DA1 DA10 DA2B DA5D Dabska tumor Dacryocele Dacryocystocele DADA2 Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy - Walker Syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Daneman-Davy-Mancer syndrome Danon disease Dapsone hypersensitivity syndrome Dapsone-induced hemolytic anemia Darbepoetin alfa-induced pure red cell aplasia Darcy disease Darier-like disease Dark skin susceptibility to melanoma Darmstadt syndrome DARS2-related leukoencephalopathy Dasyprocta syndrome Datura poisoning Davis syndrome Dawson disease Day blindness Day blindness with myopia Day blindness, congenital stationary Day blindness, Oguchi type Day blindness, progressive Day blindness, stationary DBA DBS syndrome DCAF17-related syndrome DCHS1-related mitral valve prolapse syndrome DCLRE1C deficiency DCP2-related neurodevelopmental disorder De Barsy syndrome De Grouchy syndrome De Grouchy syndrome type 1 De Grouchy syndrome type 2 De Lange syndrome De Morsier syndrome De Quervain thyroiditis De Sanctis syndrome De Sanctis-Cacchione syndrome Deafness dystonia syndrome Deafness-encephalopathy-fatty liver syndrome Deafness-infertility syndrome Deafness-myopathy syndrome Deafness-nephropathy syndrome Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome Deafness-renal anomalies syndrome Deafness-renal-genital syndrome Deafness-retinitis pigmentosa syndrome Deafness-short stature-facial dysmorphism syndrome Deafness-skeletal anomalies syndrome Deafness-vision impairment syndrome Death cap mushroom poisoning DeBarsy syndrome Decubitus ulcers Dejerine-Roussy syndrome Dejerine-Sottas disease Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p21.3) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(10)(p11.21p12.31) Del(10)(p13p14) Del(10)(p15.3) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q22q23) Del(14)(q32) Del(15)(q11q13) Del(15)(q13.3) Del(15)(q24) Del(15)(q26) Del(16)(p11.2) Del(16)(p13.3) Del(16)(q22) Del(17)(p11.2) Del(17)(p12) Del(17)(p13.3) Del(17)(q12) Del(17)(q21.31) Del(18)(p11.2) Del(18)(q12.2) Del(18)(q21) Del(18)(q23) Del(19)(p13.3) Del(19)(q13.11) Del(2)(p11.2) Del(2)(p16.1) Del(2)(p21) Del(2)(p25) Del(2)(q13) Del(2)(q21q23) Del(2)(q31) Del(2)(q32) Del(2)(q33.1) Del(2)(q37) Del(20)(p12.3) Del(20)(q11.2) Del(20)(q13.11) Del(21)(q21) Del(21)(q22.11) Del(21)(q22.13) Del(21)(q22.2) Del(22)(q11.2) Del(22)(q13) Del(3)(p13) Del(3)(p14) Del(3)(p21.31) Del(3)(p25) Del(3)(q13.31) Del(3)(q21q22) Del(3)(q25) Del(3)(q29) Del(4)(p14) Del(4)(p16) Del(5)(q22) syndrome Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25.2q25.3) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)(q24.3) Del(8)q(13) Del(9)(p13) Del(9)(q21.3) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(X)(p21) Del(X)(p23) Del(X)(q21) Delayed encephalopathy due to carbon monoxide poisoning Delayed membranous cranial ossification Delayed sleep phase syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delleman-Oorthuys syndrome Delpire-McNeill syndrome Delta granule disease Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-aminolevulinic acid dehydratase deficiency porphyria Delta-storage pool disease Demyelinating Charcot-Marie-Tooth disease Demyelinating neuropathy-central dysmyelination-Waardenburg syndrome Demyelinating polyneuropathy with deafness and cranial nerve involvement Demyelinating sensorimotor neuropathy Demyelination with brain stem and spinal cord involvement and lactate elevation Dengue Haemorrhagic Fever - DHF Dengue hemorrhagic fever Dengue Shock Syndrome - DSS Dens invaginatus Dense deposit disease Dentatorubral-pallidoluysian atrophy Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta Denture stomatitis Denys-Drash syndrome Deoxyguanosine kinase deficiency Deoxyribose phosphate aldolase deficiency Depersonalization-derealization disorder Deprenyl-associated psychosis Depression with psychotic features Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(22)t(11;22) syndrome Der(8)t(8;12) Dercum disease Dermal hypoplasia focal Dermal sinus tract Dermatillomania Dermatitis granulomatous interstitial Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermatostomatitis, Stevens Johnson type Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermoid or epidermoid cyst of the central nervous system Dermolytic epidermolysis bullosa Dermoodontodysplasia Dermotrichic syndrome DES embryofetopathy DES syndrome Desanto-Shinawi syndrome Desbuquois dysplasia DESC syndrome Desert fever Desert rheumatism Desmin-related myopathy Desmoid tumor Desmoplastic infantile astrocytoma Desmoplastic melanoma Desmoplastic small round cell tumor Desmosterolosis Desquamative interstitial pneumonia Developmental and epileptic encephalopathy due to GRIN1 mutation Developmental and epileptic encephalopathy due to SCN1A mutation Developmental and epileptic encephalopathy due to STXBP1 mutation Developmental delay with hypotonia and facial dysmorphism Developmental delay with microcephaly and seizures Developmental dysplasia of the hip Developmental encephalopathy with epilepsy Developmental regression-intellectual disability syndrome Dextrocardia with situs inversus Dextroposition of the heart Dextrotransposition of the great arteries Diabetes insipidus Diabetes Insipidus Diabetes insipidus, central Diabetes insipidus, nephrogenic Diabetes Mellitus Diabetes mellitus due to insulin receptor deficiency Diabetes mellitus due to mitochondrial DNA mutation Diabetes mellitus due to pancreatic agenesis Diabetes mellitus, permanent neonatal Diabetic Ketoacidosis Dialysis-related amyloidosis Dialysis-related arthropathy Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic or abdominal wall malformation Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Dias-Logan syndrome Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diastrophic dysplasia variant Diastrophic dysplasia-limb shortening syndrome Diastrophic dysplasia-micrognathia syndrome Diastrophic dysplasia-vertebral anomalies syndrome Diastrophic-like dysplasia Diastrophic-like dysplasia with joint contractures Diastrophic-like dysplasia with vertebral anomalies Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Dicarboxylic aminoaciduria DICER1 tumor-predisposition syndrome Didelphys uterus DIDMOAD syndrome DIDOD Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Dietary iron overload disease Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Diets-Jongmans syndrome Difference of sex development Difference of sex development of gynecological interest Difference of sex development-intellectual disability syndrome Diffuse alveolar hemorrhage Diffuse capillary malformation with overgrowth Diffuse cutaneous mastocytosis Diffuse dermal angiomatosis Diffuse esophageal leiomyomatosis Diffuse gastric cancer, hereditary Diffuse idiopathic skeletal hyperostosis Diffuse infantile hepatic hemangioma Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the CNS Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse panbronchiolitis Diffuse pulmonary lymphangiomatosis Diffuse scleroderma Diffuse systemic sclerosis Diffuse Unilateral Subacute Neuroretinitis Diffuse vascular malformation syndrome Diffuse white matter abnormality with spasticity and dementia Diffuse white matter disease with axonal spheroids Diffuse-type tenosynovial giant cell tumor Digital clubbing Digital fibromatosis, infantile Digital ulcers in systemic sclerosis Dihydropteridine reductase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DILE DiMauro disease Dimethylglycine dehydrogenase deficiency Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphyllobothriasis Diplomyelia Diplophthalmia Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Discoid lupus erythematosus Discoid lupus erythematosus, familial Discoid meniscus Disconnection syndrome Discontinuous splenogonadal fusion Discrepant atrioventricular connections Diseminated superficial actinic porokeratosis Dishevelled hair syndrome Disinhibition-dementia-parkinsonism-amyotrophy complex Dislocation of the patella, congenital Disorders of biopterin metabolism Disorders of cobalamin metabolism Disorders of creatine metabolism Disorders of fructose metabolism Disorders of galactose metabolism Disorders of glycine metabolism Disorders of lysine metabolism Disorders of mitochondrial DNA maintenance Disorders of proline metabolism Disorders of serine metabolism Disorders of sulfur metabolism Disorders of tetrahydrobiopterin metabolism Disorders of tyrosine metabolism Disorders of valine metabolism Disseminated actinic granuloma Disseminated adenovirus infection Disseminated Intravascular Coagulation Disseminated peritoneal leiomyomatosis Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal anoctaminopathy Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 10p syndrome Distal deletion 10q syndrome Distal deletion 12p syndrome Distal deletion 12q syndrome Distal deletion 13q syndrome Distal deletion 14q syndrome Distal deletion 15q syndrome Distal deletion 17q syndrome Distal deletion 19p syndrome Distal deletion 1q syndrome Distal deletion 3p syndrome Distal deletion 4p Distal deletion 4q syndrome Distal deletion 6p syndrome Distal deletion 6p25 Distal deletion 7p syndrome Distal deletion 7q36 Distal deletion 9p syndrome Distal dup(22)(q11.2) Distal dup(7)(q11.23) Distal dup(X)q(28) Distal duplication 10q syndrome Distal duplication 11q syndrome Distal duplication 13q syndrome Distal duplication 14q syndrome Distal duplication 15q syndrome Distal duplication 16p Distal duplication 16q syndrome Distal duplication 17q syndrome Distal duplication 18q syndrome Distal duplication 19q syndrome Distal duplication 1p36 syndrome Distal duplication 20q syndrome Distal duplication 22q syndrome Distal duplication 2p syndrome Distal duplication 2q syndrome Distal duplication 3p syndrome Distal duplication 4p syndrome Distal duplication 4q syndrome Distal duplication 5q syndrome Distal duplication 6p syndrome Distal duplication 6q syndrome Distal duplication 7p syndrome Distal duplication 8p syndrome Distal duplication 8q syndrome Distal duplication 9p syndrome Distal duplication 9q syndrome Distal hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 Distal hereditary motor neuropathy type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal Intestinal Obstruction Syndrome Distal myopathy Distal myopathy type 1 Distal myopathy type 2 Distal myopathy type 3 Distal myopathy type 4 Distal myopathy type 5 Distal trisomy 22q11.2 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy Xq28 Distal-HMN type 6 Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK phocomelia syndrome DK1-CDG DKC DLBCL of the CNS DLG3-related intellectual disability DLX5-related split hand-foot malformation DM1 DM2 DMDD DMGDH deficiency DMPK-related myotonic dystrophy DNA repair disorder with growth deficiency (Bloom syndrome) DNM2-related centronuclear myopathy DNMT3A overgrowth syndrome DNMT3A-related intellectual disability syndrome DOCK2 deficiency DOCK8 deficiency Dolichocephaly Dolichol kinase deficiency Dolichyl-phosphate-mannose synthase 1 deficiency Dolichyl-phosphate-mannose synthase 2 deficiency Dolichyl-phosphate-mannose synthase 3 deficiency Dolichyl-phosphate-mannose synthase deficiency Dolichyl-phosphate-mannose synthase deficiency-dystroglycanopathy syndrome Dolly syndrome Dominant beta-thalassemia Dominant drusen Dominant dystrophic epidermolysis bullosa Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant optic atrophy Dominant optic atrophy plus syndrome Dominant optic atrophy with cataract Dominant optic atrophy with deafness Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome DONSON-related microcephaly-short stature-limb abnormalities spectrum DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dopamine transporter deficiency syndrome Dorfman-Chanarin syndrome Dorsal spinal cord lipoma Double A syndrome Double discordance Double inlet atrioventricular connection Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Down syndrome due to mosaic trisomy 21 Down syndrome due to translocation Down syndrome with acute lymphoblastic leukemia Down syndrome with acute myeloid leukemia Down syndrome with transient myeloproliferative disorder Dravet syndrome Dreifuss muscular dystrophy Drepanocytosis DRESS syndrome Drinking water-associated arsenic toxicity Drooling-choreoathetosis syndrome Drop attacks DRPLA Drug reaction with eosinophilia and systemic symptoms Drug-induced agranulocytosis Drug-induced aseptic meningitis Drug-induced autoimmune hemolytic anemia Drug-induced autoimmune thrombocytopenia Drug-induced cholestasis Drug-induced eosinophilia Drug-induced hypersensitivity syndrome Drug-induced immune thrombocytopenia Drug-induced interstitial lung disease Drug-induced lupus erythematosus Drug-induced myopathy Drug-induced pancreatitis Drug-induced parkinsonism Drug-induced photosensitivity Drug-induced pneumonitis Drug-induced pruritus Drug-induced QT prolongation Drug-induced thrombocytopenia Drug-induced vasculitis Dry eye syndrome, severe congenital Dry scalp syndrome Dubowitz syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy with cardiomyopathy Duchenne muscular dystrophy, female carrier Ductal plate malformation Duodenal duplication Duodenal obstruction Dysostosis Multiplex Eales disease Ear Infections Ear-patella-short stature syndrome Early infantile developmental and epileptic encephalopathy Early onset familial encephalopathy with neuroserpin inclusion bodies Early onset non-syndromic cataract Early onset progressive leukoencephalopathy central nervous system calcification hearing loss visual impairment syndrome Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Early-onset autosomal recessive TTN-related distal myopathy Early-onset benign childhood occipital epilepsy Early-onset calcifying leukoencephalopathy skeletal dysplasia Early-onset cerebellar ataxia with retained tendon reflexes Early-onset citrullinemia type 1 Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy intellectual disability brain anomalies syndrome Early-onset familial hyperreninemic hypoaldosteronism Early-onset generalized torsion dystonia Early-onset idiopathic chronic pancreatitis Early-onset Lafora body disease Early-onset obesity-hyperphagia severe developmental delay syndrome Early-onset Parkinson disease Early-onset parkinsonism intellectual disability syndrome Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindness-ataxia spasticity syndrome Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to AP3D1 deficiency Early-onset severe retinal dystrophy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome East Texas bleeding disorder Eastman-Bixler syndrome Eating reflex epilepsy EBV-associated gastric carcinoma EBV-associated lymphoproliferative disorder EBV-associated mesenchymal tumor EBV-induced lymphoproliferative disease due to CARMIL2 deficiency EBV-induced lymphoproliferative disease due to CD70 deficiency EBV-induced lymphoproliferative disease due to CTPS1 deficiency EBV-induced lymphoproliferative disease due to PRKCD deficiency EBV-induced lymphoproliferative disease due to RASGRP1 deficiency EBV-positive diffuse large B-cell lymphoma Eccrine angiomatous hamartoma Ectasia of the left atrial appendage Ectasia of the right atrial appendage Ectasic coloboma Ectodermal dysplasia Ectodermal dysplasia Berlin type Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth Ectodermal dysplasia with natal teeth Turnpenny type Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic neurohypophysis Eczema Encephalitis - Diffuse Encephalitis - Focal Encephalomyelitis Encephalopathy Endocarditis Endometrial Neuroendocrine Tumour Endophthalmitis Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy Enteropathy-associated T-cell lymphoma Enthesitis-related juvenile idiopathic arthritis Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic cystitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granulomatosis with polyangiitis Ependymoma EPHB4-related capillary malformation-arteriovenous malformation EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis Epiblepharon Epibronchial right pulmonary vein syndrome Epicardial coronary artery fibromuscular dysplasia Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermal nevus syndrome (Becker nevus syndrome) Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with nephropathy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic palmoplantar keratoderma Epididymo-Orchitis Epignathus Epilepsia partialis continua Epilepsy Epilepsy of infancy with migrating focal seizures Epilepsy with auditory features Epilepsy with eyelid myoclonia Epilepsy with generalized tonicclonic seizures alone Epilepsy with myoclonic absences Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with spike-and-wave activation in sleep Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelial tumor of anal canal Epithelial tumor of the appendix Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature Equinia Erdheim-Chester disease ERF-related syndromic craniosynostosis Erosive pustular dermatosis of the scalp Erysipelas Erythema elevatum diutinum Erythema multiforme major Erythema palmare hereditarium Erythematous Candida Erythrocyte GALE deficiency Erythrocyte lactate transporter defect Erythrodermic ichthyosis Erythrokeratoderma variabilis progressiva Erythrokeratoderma with ataxia Erythrokeratodermia-cardiomyopathy syndrome Erythroleukemia Escher-Hirt syndrome Escobar syndrome Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction Esophageal atresia with or without trachea-esophageal fistula Esophageal squamous cell carcinoma Essential mixed cryoglobulinemia Estrogen resistance syndrome Ethylene glycol poisoning Ethylmalonic encephalopathy Euhidrotic ectodermal dysplasia Euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dystransthyretinemic hyperthyroxinemia Euthyroid Graves orbitopathy EVEN-plus syndrome Excess breast volume or number Excretory apparatus of the lacrimal system anomaly Exencephaly Exercise intolerance with lactic acidosis Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermia-brachydactyly type E syndrome Exposure-related interstitial lung disease Exstrophy-epispadias complex Extensive venous malformation External auditory canal aplasia/hypoplasia Extra-adrenal aldosterone-producing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germ cell tumor Extragonadal germinoma Extragonadal non-dysgerminomatous germ cell tumor Extragonadal teratoma Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraskeletal myxoid chondrosarcoma Extrathoracic heart Extraventricular neurocytoma Extremity fibromuscular dysplasia Extrinsic Allergic Alveolitis Eye-brow duplication-syndactyly syndrome EZH2-related overgrowth syndrome F syndrome F12-related hereditary angioedema with normal C1 inhibitor FACES syndrome Facial cleft Facial dermoid cyst Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism hypertrichosis-epilepsy-intellectual disability-developmental delay-gingival overgrowth syndrome Facial dysmorphism macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-anorexia cachexia-eye and skin anomalies syndrome Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy Facial dysmorphism-global developmental delay-hypotoniapolymicrogyria syndrome Facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities spontaneous filtering blebs syndrome Facial dysmorphism-ocular anomalies-osteopenia-intellectual disabilitydental anomalies syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial granuloma of Lever Facial hemispasm Facial infiltrating lipomatosis Facial nerve palsy due to varicella zoster virus Facial neuralgia Facial onset sensory and motor neuronopathy Facio-audio-symphalangism syndrome Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary dissociation Facio-pharyngo-glosso-masticatory diplegia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Factor IX deficiency, Leyden type Factor V Amsterdam bleeding disorder Factor V and Factor VIII combined deficiency Factor V Atlanta bleeding disorder Factor V East Texas bleeding disorder Factor V Quebec Factor V short isoforms-related bleeding disorder FADD-related immunodeficiency FAH deficiency FAHN Fallot complex-intellectual disability-growth delay syndrome Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adrenal hypoplasia Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type IV Familial Amyloid Syndromes Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial APOA5 deficiency Familial apoC-II deficiency Familial apolipoprotein A-V deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial articular hypermobility syndrome Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial breast cancer Familial breast carcinoma Familial calcium pyrophosphate deposition disease Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CD8 deficiency Familial cerebral amyloid angiopathy Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial chilblain lupus Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold autoinflammatory syndrome type 4 Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer type X Familial congenital contralateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial continuous skin peeling syndrome Familial cortical myoclonic tremor and epilepsy Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cylindromatosis Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dyslipidemia type 3 Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial gigantiform cementoma Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type 4 Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinsulinemic hypoglycemia Familial hyperinsulinism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperphosphatemic tumoral calcinosis Familial hyperprolactinemia Familial hyperthyroidism due to TSH receptor mutation Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial idiopathic steroidresistant nephrotic syndrome Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation Familial intestinal polyposis Familial intracranial saccular aneurysm Familial intrahepatic cholestasis Familial intraosseous vascular malformation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form Familial isolated arrhythmogenic ventricular dysplasia, right-dominant form Familial isolated café-au-lait macules Familial isolated café-au-lait spots Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated retinal arteriolar tortuosity Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial macular edema Familial median cleft of the upper and lower lips Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy Familial mitral valve prolapse Familial monosomy 7 syndrome Familial multinodular goiter Familial multiple cutaneous leiomyomas Familial multiple discoid fibromas Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichodiscomas Familial multiple trichoepithelioma Familial nasal acilia Familial non-immune hyperthyroidism Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial nonmedullary thyroid carcinoma Familial nonpolyposis colorectal cancer Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteonecrosis of femoral head Familial pancreatic cancer Familial papillary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial partial epilepsy Familial partial epilepsy with variable foci Familial partial lipodystrophy Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial pelvis-scapular dysplasia Familial peripheral male-limited precocious puberty Familial pheochromocytomaparaganglioma Familial platelet disorder with associated myeloid malignancy Familial platelet disorder with predisposition to acute myeloid leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial porencephaly Familial porphyria cutanea tarda Familial primary hyperparathyroidism Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma Familial prion disease Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive subcortical gliosis Familial prostate cancer Familial pseudohyperkalemia Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain syndrome Familial recurrent arthritis Familial recurrent Bell palsy Familial renal amyloidosis Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial renal hypouricemia Familial retinal arterial macroaneurysm Familial scaphocephaly syndrome Familial scaphocephaly-radioulnar synostosis syndrome Familial schizencephaly Familial spastic paraplegia Familial spontaneous pneumothorax Familial startle disease Familial syringomyelia Familial systemic lupus erythematosus Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and dissection Familial thrombocythemia Familial thrombocytosis Familial thyroglossal duct cyst Familial transthyretin-related amyloidosis Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial woolly hair syndrome Fanconi Syndrome Fanconi-Bickel syndrome FAR1 deficiency Fara-Chlupackova syndrome Fara-Chlupackova syndrome type 1 Fara-Chlupackova syndrome type 2 Farber disease Fasciolopsiasis Fast-channel congenital myasthenic syndrome Fast-flow vascular malformation FASTKD2-related infantile mitochondrial encephalomyopathy Fatal Familial Insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile hypertonic myofibrillar myopathy Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal pontocerebellar hypoplasiahypotonia-respiratory insufficiency syndrome Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation disorder with cardiomyopathy Fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 superactivity Faulk-Epstein-Jones syndrome Favism FBLN1-related developmental delay-central nervous system anomalysyndactyly syndrome FBPase deficiency Febrile infection-related epilepsy syndrome Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Felty's Syndrome Female adnexal tumor of probable Wolffian origin Female infertility due to implantation defect of genetic origin Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome Femur-fibula-ulna complex Femur-fibula-ulna syndrome Fenestrae parietales symmetricae Fenton-Wilkinson-Toselano syndrome Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acetylcholine receptor antibody-related disorder Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal Alcohol Syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal anticonvulsant syndrome Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal Death Fetal Distress in Labour Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal iodine syndrome Fetal lower urinary tract obstruction Fetal lung interstitial tumor Fetal methylmercury poisoning Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fetal valproate syndrome Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathy Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children Fibro-adipose vascular anomaly Fibroblastic rheumatism Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrolamellar hepatocellular carcinoma Fibrolipomatous filum terminale anomaly Fibroma-like epithelioid sarcoma Fibromuscular dysplasia Fibromuscular dysplasia of cervical and intracranial arteries Fibromuscular dysplasia of renal arteries Fibromuscular dysplasia of the arteries of the extremities Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing Alveolitis Fibrosing mediastinitis Fibrotic hypersensitivity pneumonitis Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Filamin A-related X-linked myxomatous valvular dysplasia Filamin C-related myofibrillar myopathy Filamin-related bone disorder Filariasis Filippi syndrome FILS syndrome FINCA syndrome Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hidradenoma Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed drug eruption Fixed subaortic stenosis FKBP14-related Ehlers-Danlos syndrome FKRP-related limb-girdle muscular dystrophy FKTN-related congenital muscular dystrophy Fleck corneal dystrophy Flegel disease FLNA-related valvular dystrophy FLNC-related distal myopathy Floating-Harbor syndrome Floppy Valve Syndrome Florid cemento-osseous dysplasia Flow limitation in the iliac artery Fluctuating myotonia Flynn-Aird syndrome Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal facial dermal dysplasia Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type 2 Focal facial dermal dysplasia type 3 Focal facial dermal dysplasia type 4 Focal intestinal perforation Focal myositis Focal nodular myositis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Focal segmental glomerulosclerosis (FSGS) Focal stiff-person syndrome Fogo selvagem Foix-Chavany-Marie syndrome Folate Deficiency Folate receptor alpha deficiency Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Folliculotropic mycosis fungoides Fontaine progeroid syndrome Fontan-associated liver disease Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome FOSL2-related neurodevelopmental disorder FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler urethral sphincter dysfunction syndrome Fowler vasculopathy Fowler-Christmas-Chapple syndrome FOXG1 syndrome FOXG1 syndrome due to 14q12 microdeletion FOXG1 syndrome due to intragenic alteration FOXG1-related epileptic-dyskinetic encephalopathy FOXP1 syndrome FOXP2-associated speech and language disorder Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor-ataxia syndrome Fragile X-associated tremor/ataxia syndrome Fragoso-Cantú syndrome Franceschetti Oculodigital Sign Franceschetti-Klein syndrome François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Frank-Ter Haar syndrome Fraser syndrome Frasier syndrome FRAXE intellectual disability Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Burian syndrome Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freiberg disease Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frey syndrome Fried syndrome Fried tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia type 1 Frontonasal dysplasia type 2 Frontonasal dysplasia type 3 Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopeciagenital anomalies syndrome Frontonasal dysplasia-bifid noseupper limb anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Fructose-1,6-diphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly syndrome Fryns microphthalmia syndrome Fryns-Hofkens-Fabry syndrome Fucosidosis type I and II Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuhara syndrome Fukutin-related limb-girdle muscular dystrophy Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarylacetoacetase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblE Functioning gonadotropic adenoma Functioning pancreatic neuroendocrine tumor Functioning pituitary adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal keratitis Fungal myositis Furukawa-Takagi-Nakao syndrome Furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Dermatobia hominis Fusariosis Fused mandibular incisors Fusion of metacarpals 4 and 5 Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI Gerstmann-Sträussler-Scheinker disease GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gonadal Dysgenesis Gout Guillain Barre Syndrome Gyrate Atrophy H syndrome H syndrome-like disorder H-ABC H-type tracheoesophageal fistula H1-4-related neurodevelopmental disorder HA20-related monogenic Behcet-like disease Haberland syndrome Haddad syndrome Hadziselimovic syndrome Haemochromatosis Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Haemoglobin E disease Haemoglobin H Disease Haemoglobin H-Constant Spring disease Haemoglobin Lepore syndrome Haemoglobin M-Hyde Park disease Haemoglobin S/D Punjab disease Haemoglobin S/O-Arab disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Haemorrhagic septicemia due to Capnocytophaga canimorsus HAFOUS HAFOUS due to USP7 mutation Hailey-Hailey disease Haim-Munk syndrome Hair-nail ectodermal dysplasia Hairy Cell Leukaemia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome HaNDL syndrome Hanhart syndrome Hanot syndrome Hantavirosis Hantavirus pulmonary syndrome Hao-Fountain syndrome HAPE Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome Hard flaccid syndrome Hardikar syndrome Harding disease Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disorder Hartnup syndrome with pellagra-like rash Hashimoto encephalopathy Hashimoto thyroiditis with encephalopathy Hashimoto-Pritzker syndrome Haspeslagh syndrome Haspeslagh-Fryns-Muelenaere syndrome HbS-Lepore disease HbS-O Arab disease HbS-other specified hemoglobin variant disease HbSD disease HbSE disease HBSL HCD HCDD HCFC1-related disorder HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HD-HA syndrome HDFN HDL1 HDL2 HDL3 HDLS HDR syndrome HDV Head and neck neuroendocrine carcinoma Head and neck paraganglioma Head and neck squamous cell carcinoma, rare hereditary form Headache syndrome due to glycine receptor autoimmunity Healing palmoplantar keratoderma Hearing impairment-cataract-retinal degeneration syndrome Hearing impairment-early graying syndrome Hearing impairment-intellectual disability syndrome Hearing impairment-macular degeneration syndrome Hearing impairment-retinitis pigmentosa syndrome Hearing impairment-thrombocytopenia syndrome Hearing loss with labyrinthine aplasia, microtia, and microdontia Hearing loss-amelogenesis imperfecta syndrome Hearing loss-cardiomyopathy syndrome Hearing loss-cataract syndrome Hearing loss-craniofacial syndrome Hearing loss-epilepsy syndrome Hearing loss-familial salivary gland insensitivity syndrome Hearing loss-hyperopia-clinodactyly syndrome Hearing loss-intellectual disability syndrome, Mariner type Hearing loss-myopia-intellectual disability syndrome Hearing loss-nephritis syndrome Hearing loss-onychodystrophy syndrome Hearing loss-renal disease syndrome Hearing loss-short stature syndrome Hearing loss-vertebral anomalies syndrome Hecht syndrome Hecht-Beals syndrome Heerfordt syndrome Heimler syndrome Heinz body anemia Helicobacter pylori infection Helicobacter pylori-associated gastric carcinoma Heller myopathy HELLP syndrome Helmholtz syndrome Helminthiasis, rare forms Hemangioblastoma Hemangioma, capillary Hemangioma, cavernous Hemangioma, infantile Hemangiomatosis, diffuse neonatal Hemangiopericytoma Hemeralopia-congenital cataract syndrome Hemeralopia-myopia-color blindness-deafness syndrome Hemeralopia-recurrent respiratory infections syndrome Hemiballismus Hemicrania continua Hemifacial microsomia Hemifacial spasm Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly Hemimelic epiphyseal dysplasia Hemiparkinsonism-hemiatrophy syndrome Hemiplegia migraine, familial Hemispheric cerebral agenesis-hypoplasia syndrome Hemochromatosis (Bronze diabetes) Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin M disease Hemoglobin S-beta-thalassemia syndrome Hemoglobin SC disease Hemoglobinopathy due to unstable hemoglobin Hemoglobinopathy Toms River type Hemolytic uremic syndrome with complement factor H deficiency Hemolytic uremic syndrome with complement factor I deficiency Hemolytic uremic syndrome with membrane cofactor protein deficiency Hemolytic uremic syndrome, atypical Hemolytic uremic syndrome, typical Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, secondary Hemophilia C Hemorrhagic cystitis Hemorrhagic disease of the newborn Hemorrhagic shock and encephalopathy syndrome Hemorrhagic stroke due to cerebral amyloid angiopathy Hemorrhagic telangiectasia, cerebral form Hemorrhagic telangiectasia, cutaneous form Hemorrhagic telangiectasia, hepatic form Hemorrhagic telangiectasia, pulmonary form Henoch-Schonlein Purpura Henoch-Schonlein purpura nephritis HEPACAM-related megalencephalic leukoencephalopathy Hepatic adenoma, familial Hepatic epithelioid hemangioendothelioma Hepatic Failure Hepatic glycogen storage disease due to glycogen synthase deficiency Hepatic hemangioma Hepatic lipase deficiency Hepatic mesenchymal hamartoma Hepatic steatosis due to lipodystrophy Hepatic Vein Thrombosis Hepatic veno-occlusive disease with immunodeficiency Hepaticorectal fistula Hepatitis Hepatitis B virus-associated polyarteritis nodosa Hepatitis C virus-associated mixed cryoglobulinemia Hepatitis delta Hepatocele Hepatocellular Carcinoma Hepatocerebral form of mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Hepatocutaneous syndrome Hepatolenticular degeneration Hepatopulmonary syndrome Hepatorenal Failure Hephaestin-related iron transport disease Hereditary acral reticulate pigmentary disorder Hereditary acrokeratotic poikiloderma Hereditary amyloidosis, Finnish type Hereditary amyloidosis, transthyretin-related Hereditary congenital facial paresis Hereditary diffuse gastric cancer Hereditary fibrosing poikiloderma with tendon contractures Hereditary folate malabsorption Hereditary gingival fibromatosis Hereditary hyperekplexia Hereditary hyperferritinemia-cataract syndrome Hereditary inclusion body myopathy Hereditary isolated aplastic anemia Hereditary isolated MTC Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis and renal cell cancer Hereditary Lev-Lenègre disease Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy, Okinawa type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary nephrotic syndrome Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neurogenic diabetes insipidus Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary nonpolyposis colorectal cancer Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary optic neuropathy Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary papillary renal cell carcinoma Hereditary PCCD Hereditary periodic fever syndrome Hereditary periodic fever syndromes Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pituitary hyperplasia Hereditary poikiloderma Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary pseudocholinesterase deficiency Hereditary pseudohaemophilia Hereditary pulmonary alveolar proteinosis Hereditary pulmonary arterial hypertension Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to DNMT1 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with dementia and hearing loss Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary SI-NET Hereditary sick sinus syndrome Hereditary sodium channelopathy-related small fiber neuropathy Hereditary steroid-resistant nephrotic syndrome Hereditary stomatocytic disease Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelodysplasia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defects Hereditary transthyretin amyloid polyneuropathy Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary xerocytosis Heredopathia atactica polyneuritiformis Herlyn-Werner-Wunderlich syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes labialis Herpes simplex virus encephalitis Herpes simplex virus stromal keratitis Herpetiform pemphigus Hers disease Herva disease Heterozygous microdeletion 17p11.2p12 HEXA disorder, adult form HEXA disorder, infantile form HEXA disorder, juvenile form Hexosaminidase activator deficiency Heyn-Sproul-Jackson syndrome High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/or BCL2 and/or BCL6 rearrangements High myopia-sensorineural deafness syndrome Hilar cholangiocarcinoma Hippocampal memory defect leukoencephalopathy Hippocampal sclerosis-related mesial temporal lobe epilepsy Hirayama disease Hirschsprung disease and intellectual disability due to MED13L deficiency Hirschsprung disease and intellectual disability due to ZEB2 deficiency Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome His bundle tachycardia Histidinuria-renal tubular defect syndrome Histiocytic and dendritic cell tumor Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histiocytosis X HITT HIV-associated cancer HJMD HLHS HMC syndrome HMG-CoA lyase deficiency HMG-CoA synthase deficiency HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF1B-related nephropathy HNRNPA1-related adult-onset distal myopathy HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH2-related neurodevelopmental disorder HNRNPK-related neurodevelopmental disorder HNRNPR-related neurodevelopmental disorder HNRPH1-related neurodevelopmental disorder HO-1 deficiency Hobnail hemangioma HOD Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome Hoffmann syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Collins syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holohemispheric giant cerebral arteriovenous malformation Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocystinuria Homocystinuria due to CBS deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous 2p21 microdeletion syndrome Homozygous alpha0-thalassemia Homozygous beta-thalassemia Homozygous delta-beta thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia due to APOB deficiency Homozygous familial hypercholesterolemia due to LDLR deficiency Homozygous familial hypercholesterolemia due to PCSK9 deficiency Homozygous hemoglobin C disease Homozygous hemoglobin D disease Homozygous hemoglobin E disease Homozygous hemoglobin Lepore syndrome Homozygous hemoglobin O Arab disease Homozygous hemoglobin O-Arab disease Homozygous hemoglobin S disease Homozygous hypobetalipoproteinemia Homozygous protein C deficiency Homozygous protein S deficiency Homozygous variegate porphyria Honey-droplet corneal dystrophy Honeycomb corneal dystrophy HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horner Syndrome Hornstein-Knickenberg syndrome Hot water reflex epilepsy Houge-Janssens syndrome-1 Houlston-Ironton-Temple syndrome Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPDL-related Leigh-like encephalopathy HPRT complete deficiency HPRT deficiency HPRT partial deficiency HPS10 HPS2 HRD syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related cerebral small vessel disease Hughes-Stovin syndrome Human herpesvirus 8-related disorder Human herpesvirus-8-associated multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Human infection by orthopoxvirus Human prion disease Humerus trochlea aplasia Hunter-Jurenka-Thompson syndrome Hunter-McAlpine syndrome Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington disease phenocopy due to C9ORF72 expansion Huntington disease phenocopy syndrome Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huppke-Brendel syndrome HUPRA syndrome Huriez syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome Hyaline body myopathy Hyaline fibromatosis syndrome Hyaline membrane disease Hyaline ring granuloma Hyalinosis cutis et mucosae Hyaluronidase 2 deficiency Hyaluronidase deficiency Hybrid acute leukemia Hybrid peripheral nerve sheath tumor Hydatid disease Hydatidiform mole Hydatidiform mole, biparental recurrent form Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydranencephaly with abnormal genitalia Hydrargyria Hydroa vacciniforme Hydroa vacciniforme-like lymphoproliferative disorder Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Hydrocephalus with hop gait, abducens palsy and psychomotor retardation Hydrocephalus with obesity, hypogonadism, and retinal dystrophy Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue sclera-nephropathy syndrome Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-tall stature-joint laxity-kyphoscoliosis syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vascular anomaly Hydrolethalus syndrome 2 Hydrometrocolpos-polydactyly syndrome Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops Fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystem failure syndrome Hydroxyacyl-CoA dehydrogenase trifunctional protein deficiency Hydroxykynureninuria Hydroxymethylglutaric aciduria Hydroxymethylglutaryl-CoA lyase deficiency Hydroxysteroid dehydrogenase deficiency, isolated Hygroma colli Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome, autosomal recessive Hyper-IgM syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome type 6 Hyper-IgM syndrome type 7 Hyperalaninemia Hyperaldosteronism Hyperammonemia Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperargininemia due to arginase deficiency Hyperbilirubinemia due to Crigler-Najjar syndrome type 2 Hyperbilirubinemia due to Gilbert syndrome Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcaemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholanemia, familial Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HyperCKemia with myalgia HyperCKemia, idiopathic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercontractile muscle stiffness syndrome Hyperdibasic aminoaciduria Hyperekplexia with apnea Hyperekplexia, hereditary major form Hyperekplexia, hereditary minor form Hyperekplexia-epilepsy syndrome Hypereosinophilic obliterative bronchiolitis Hypereosinophilic syndrome with idiopathic eosinophilia Hyperexplexia due to glycine receptor deficiency Hyperferritinemia with cataract Hyperglycerolemia Hyperglycinuria Hyperglycinuria due to iminoglycinuria syndrome Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-hearing loss-ataxia syndrome Hypergonadotropic hypogonadism-retinitis pigmentosa syndrome Hypergonadotropic ovarian dysgenesis Hyperimidodipeptiduria Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycaemia Hyperinsulinism due to ABCC8 deficiency Hyperinsulinism due to AKT2 deficiency Hyperinsulinism due to CACNA1D deficiency Hyperinsulinism due to exercise-induced monocarboxylate transporter 1 expression Hyperinsulinism due to FOXA2 deficiency Hyperinsulinism due to GCK deficiency Hyperinsulinism due to GLUD1 deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HK1 deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to KCNJ11 deficiency Hyperinsulinism due to mitochondrial glutamate carrier deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to phosphoglucomutase 1 deficiency Hyperinsulinism due to PMM2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to TRMT10A deficiency Hyperinsulinism due to UCP2 anomaly Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism-hyperammonemia due to GLUD1 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkeratosis congenita Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans of Flegel Hyperkeratosis palmoplantaris striata varians Hyperkeratosis-hyperpigmentation syndrome Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermobile Ehlers-Danlos syndrome Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpigmentation of the skin Hyperprolinemia type 1 Hyperprolinemia type 2 Hypersarcosinemia Hypersensitivity pneumonitis Hypersensitivity vasculitis Hypertelorism-hypospadias syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertension due to gain-of-function mutations in MR Hyperthyroidism Hypertrichosis cubiti Hypertrichosis lanuginosa acquisita Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichosis-pigmentary retinopathy-facial anomalies syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy due to mitochondrial disease Hypertrophic cardiomyopathy with kidney anomalies and limb defects syndrome Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of Dejerine-Sottas Hypertrophic olivary degeneration Hypertrophic or verrucous lupus erythematosus Hypertrophic osteoarthropathy, primary Hypertrophic pyloric stenosis Hypertrophic spinal pachymeningitis Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure syndrome Hyperviscosity Syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retardation syndrome Hypoadrenalism Hypoalphalipoproteinemia Hypobetalipoproteinemia due to ANGPTL3 deficiency Hypobetalipoproteinemia-chylomicron retention disease syndrome Hypocalcemic seizures-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypocalciuric hypercalcemia, familial Hypochondrogenesis Hypocomplementemic urticarial vasculitis Hypocretin/orexin deficiency syndrome Hypodiploid ALL Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Hypogammaglobulinaemia Hypogammaglobulinemia due to CD21 deficiency Hypogammaglobulinemia due to CD81 deficiency Hypogammaglobulinemia due to FNIP1 deficiency Hypogammaglobulinemia due to LAT deficiency Hypogammaglobulinemia due to MSN deficiency Hypogammaglobulinemia due to TWEAK deficiency Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Hypogenetic lung syndrome Hypoglossia-hypodactylia syndrome Hypoglossia/aglossia Hypogonadism Hypogonadism-alopecia-diabetes mellitus-mental retardation syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-developmental delay syndrome Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypointestinal pseudoobstruction with facial dysmorphism syndrome Hypokalemic alkalosis with sensorineural deafness Hypokalemic alkalosis-hypomagnesemia syndrome Hypokalemic nephropathy Hypokalemic nephropathy with sensorineural deafness Hypokalemic periodic paralysis type 1 Hypokalemic periodic paralysis type 2 Hypokalemic periodic paralysis with central core disease Hypokalemic periodic paralysis with paramyotonia Hypokalemic periodic paralysis, atypical form Hypokalemic rickets Hypokalemic sensory overstimulation Hypokalemic tubulopathy with hearing loss Hypokeratosis of palms and soles Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy Hypomyelinating leukodystrophy due to FAM126A deficiency Hypomyelinating leukodystrophy due to HIKESHI deficiency Hypomyelinating leukodystrophy due to NKX6-2 deficiency Hypomyelinating leukodystrophy due to TMEM106B deficiency Hypomyelinating leukodystrophy with brain stem and spinal cord involvement Hypomyelinating leukodystrophy with or without oligodontia Hypomyelinating leukodystrophy with slowly progressive ataxia Hypomyelinating leukodystrophy-ataxia-hypodontia syndrome Hypomyelinating leukodystrophy-hypogonadotropic hypogonadism syndrome Hypomyelinating neuropathy with congenital glaucoma Hypomyelinating neuropathy-congenital cataract syndrome Hypomyelination and congenital cataract Hypomyelination with atrophy of the basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with cataract and developmental delay Hypomyelination with congenital spondylocostal dysostosis Hypomyelination with delayed myelination and vanishing white matter Hypomyelination with early cerebellar atrophy Hypomyelination with hypodontia and hypogonadotropic hypogonadism Hypomyelination with optic nerve atrophy and basal ganglia abnormalities Hypomyelination with severe intellectual disability and basal ganglia abnormalities Hypomyelination with vanishing white matter Hypomyelination, hypogonadotropic hypogonadism and hypodontia Hypomyelination-congenital cataract syndrome Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Hypoparathyroidism Hypoparathyroidism due to CASR gain-of-function mutation Hypoparathyroidism due to GCM2 deficiency Hypoparathyroidism due to GNA11 gain-of-function mutation Hypoparathyroidism due to PTH deficiency Hypoparathyroidism due to SOX3 duplication Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal dysplasia syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism due to TBCE deficiency Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability syndrome Hypophosphatasia Hypophosphatasia due to ALPL deficiency Hypophosphatasia, adult form Hypophosphatasia, childhood form Hypophosphatasia, infantile form Hypophosphatasia, odontohypophosphatasia form Hypophosphatasia, perinatal benign form Hypophosphatasia, perinatal lethal form Hypophosphatasia-seizures-intellectual disability syndrome Hypophosphatemic nephrolithiasis-osteoporosis syndrome Hypophosphatemic rickets with hypercalciuria Hypophosphatemic rickets with hyperparathyroidism Hypophosphatemic rickets with nephrocalcinosis Hypophosphatemic rickets with renal phosphate wasting Hypophosphatemic rickets, autosomal dominant Hypophosphatemic rickets, autosomal recessive Hypophosphatemic rickets, X-linked dominant Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation, organomegaly, and delayed myelination syndrome Hypopigmentation-deafness syndrome Hypopigmentation-immunodeficiency with or without neurologic defects syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism Hypopituitarism due to GLI2 deficiency Hypopituitarism due to HESX1 deficiency Hypopituitarism due to LHX3 deficiency Hypopituitarism due to LHX4 deficiency Hypopituitarism due to LHX4 mutation with Chiari malformation Hypopituitarism due to OTX2 deficiency Hypopituitarism due to POU1F1 deficiency Hypopituitarism due to PROP1 deficiency Hypopituitarism due to transcription factor defect Hypopituitarism with ectopic posterior pituitary and pituitary stalk interruption syndrome Hypoplasia of corpus callosum with microcephaly and coloboma Hypoplasia of the cerebellum with progressive microcephaly Hypoplasia of the inferior cerebellar vermis with psychomotor retardation Hypoplasia of the mitral valve annulus Hypoplasia of the optic nerve with endocrine abnormalities Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta and nephrocalcinosis Hypoplastic anemia due to ribosomal protein deficiency Hypoplastic anemia with myelofibrosis Hypoplastic anemia-retardation syndrome Hypoplastic bone marrow failure syndrome Hypoplastic corpus callosum-retinopathy syndrome Hypoplastic distal phalanges-hypoplastic nails syndrome Hypoplastic left heart complex Hypoplastic left heart syndrome Hypoplastic left heart syndrome with aortic atresia Hypoplastic left heart syndrome with intestinal malrotation Hypoplastic left heart syndrome with mitral atresia Hypoplastic left heart syndrome with mitral stenosis Hypoplastic left heart syndrome with restrictive atrial septum Hypoplastic left heart syndrome with splenic anomalies Hypoplastic myelodysplastic syndrome Hypoplastic myelodysplastic syndrome with fibrosis Hypoplastic or aplastic tibia with polydactyly Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic right heart syndrome Hypoplastic right ventricle with pulmonary atresia Hypoplastic thumbs and halluces with ocular anomalies Hypoplastic thumbs with distal phalangeal aplasia and short stature Hypoplastic thumbs-onychodystrophy-deafness syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tricuspid valve syndrome Hypoplastic tricuspid valve with pulmonary atresia Hypoplastic uterus and vagina syndrome Hypoplastic uterus with distal vaginal atresia Hypoplastic vitreoretinopathy Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyporegenerative anemia with mitochondrial dysfunction Hyporeninemic hypertension Hyporeninemic hypoaldosteronism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias with facial anomalies and intellectual disability Hypospadias with growth retardation syndrome Hypospadias, severe form Hypospadias-dysphagia syndrome Hypospadias-intellectual disability, Goldblatt type Hypospadias-mental retardation syndrome Hypospadias-microcephaly syndrome Hypospadias-retardation syndrome, Opitz type Hypospadias-short stature-intellectual disability syndrome Hypotelorism-cleft palate-hypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartoma with gelastic seizures Hypothyroidism Hypothyroidism due to deficient transcription factors Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Hypotonia and developmental delay with atrophy of the leg muscles Hypotonia and ichthyosis due to dolichol phosphate mannose synthase deficiency Hypotonia and intellectual disability syndrome due to UNC80 deficiency Hypotonia and psychomotor retardation with characteristic facies Hypotonia ataxia developmental delay syndrome Hypotonia developmental delay and characteristic facies syndrome Hypotonia infantile with psychomotor retardation and characteristic facies 1 Hypotonia infantile with psychomotor retardation and characteristic facies 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia infantile with psychomotor retardation and characteristic facies 4 Hypotonia infantile with psychomotor retardation and characteristic facies 5 Hypotonia infantile with psychomotor retardation and characteristic facies 6 Hypotonia infantile with psychomotor retardation and characteristic facies 7 Hypotonia with lactic acidemia and hyperammonemia Hypotonia, infantile, with psychomotor retardation and characteristic facies 10 Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 Hypotonia, infantile, with psychomotor retardation and characteristic facies 8 Hypotonia, infantile, with psychomotor retardation and characteristic facies 9 Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome Hypotonia-cerebellar atrophy-developmental delay syndrome Hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome due to 2p21 deletion Hypotonia-cystinuria type 1 syndrome Hypotonia-deafness syndrome Hypotonia-encephalopathy-seizure syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypotonia-hypogonadism-hypogenitalism-obesity-developmental delay syndrome Hypotonia-intellectual disability-behavioral abnormalities syndrome Hypotonia-intellectual disability-obesity syndrome Hypotonia-motor delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome due to CTBP1 deficiency Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy due to CDH3 deficiency Hypotrichosis with keratosis pilaris and alopecia Hypotrichosis with recurrent skin blistering Hypotrichosis with recurrent skin vesicles Hypotrichosis with woolly hair Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-juvenile macular degeneration syndrome Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defects syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-retinal degeneration juvenile macular dystrophy syndrome Hypotrichosis-skin lesions-acral blistering syndrome Hypouricemia with exercise-induced acute kidney injury Hypouricemia, renal Hypouricemia, renal, type 1 Hypouricemia, renal, type 2 Hypouricemic nephrolithiasis Hypouricemic nephropathy Hypoventilation due to congenital leptin receptor deficiency Hypoventilation syndrome due to congenital leptin deficiency Hypovitaminosis D rickets due to vitamin D receptor defect Hypoxic-ischemic encephalopathy Hyrtl anomaly Hystrix-like ichthyosis with deafness syndrome Hystrix-like ichthyosis-deafness syndrome due to GJB2 deficiency I-TGCV ICF syndrome ICF syndrome type 2 ICF syndrome type 3 ICF syndrome type 4 Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome Ichthyosis vulgaris Ichthyosis-spastic quadriplegia-mental retardation syndrome Idiopathic CD4 lymphocytopenia Idiopathic environmental intolerance Idiopathic generalized epilepsy Idiopathic Hyperprolactinaemia Idiopathic infantile arterial calcification Idiopathic ketotic hypoglycemia Idiopathic lymphocytopenia Idiopathic non-cirrhotic portal hypertension Idiopathic pleuroparenchymal fibroelastosis Idiopathic portal hypertension Idiopathic scoliosis Idiopathic short stature Idiopathic systemic capillary leak syndrome Idiopathic Thrombocytopenic Purpura Idiopathic ventricular tachycardia IgA glomerulonephritis IgA nephropathy IgA pemphigus IgA vasculitis IgG4-related disease IGHD IGHD type 1A IGHD type 1B IGHD type 2 IGHD type 3 IgM deficiency, selective IgM glomerulonephritis IgM nephropathy IL10 deficiency IL10 receptor deficiency IL12 receptor beta 1 deficiency IL21 receptor deficiency IL2RG deficiency IL6 receptor deficiency IL7 receptor deficiency Imerslund-Gräsbeck syndrome Immune complex mediated vasculitis Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune hydrops fetalis Immune thrombocytopenia, chronic Immune-mediated acquired neuromuscular junction disease Immune-mediated cerebellar ataxia Immune-mediated necrotizing myopathy Immune-mediated scleritis Immune-mediated thrombotic thrombocytopenic purpura Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to ADA deficiency Immunodeficiency due to AK2 deficiency Immunodeficiency due to CARD11 deficiency Immunodeficiency due to CARD9 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to CD40 deficiency Immunodeficiency due to CD40 ligand deficiency Immunodeficiency due to DOCK8 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to GATA2 deficiency Immunodeficiency due to IKZF1 deficiency Immunodeficiency due to IL2RB deficiency Immunodeficiency due to IRF8 deficiency Immunodeficiency due to JAK3 deficiency Immunodeficiency due to LCK deficiency Immunodeficiency due to MALT1 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to NEMO deficiency Immunodeficiency due to ORAI1 deficiency Immunodeficiency due to PIK3CD mutation Immunodeficiency due to PIK3R1 mutation Immunodeficiency due to PNP deficiency Immunodeficiency due to RAG1 deficiency Immunodeficiency due to RAG2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to STAT1 gain-of-function mutation Immunodeficiency due to STAT3 mutation Immunodeficiency due to STIM1 deficiency Immunodeficiency due to TCF3 deficiency Immunodeficiency due to TYK2 deficiency Immunodeficiency due to ZAP70 deficiency Immunodeficiency with antibody deficiency and autoimmunity Immunodeficiency with combined B and T cell defect Immunodeficiency with DNA repair defect Immunodeficiency with factor I anomaly Immunodeficiency with hyper IgE and recurrent infections Immunodeficiency with hyper IgM due to AICDA deficiency Immunodeficiency with hyper IgM due to UNG deficiency Immunodeficiency with hyper IgM, X-linked Immunodeficiency with hypopigmentation and neurologic abnormalities Immunodeficiency with immune dysregulation due to FOXP3 deficiency Immunodeficiency with lymphopenia due to CD3 deficiency Immunodeficiency with lymphopenia due to CD45 deficiency Immunodeficiency with lymphopenia due to CORO1A deficiency Immunodeficiency with lymphopenia due to MST1 deficiency Immunodeficiency with lymphopenia due to PTPRC deficiency Immunodeficiency with lymphopenia due to RAC2 deficiency Immunodeficiency with lymphopenia due to TTC7A deficiency Immunodeficiency with lymphoproliferation and autoimmunity Immunodeficiency with multiple intestinal atresias Immunodeficiency with susceptibility to EBV infection Immunodeficiency with susceptibility to fungal infections Immunodeficiency with susceptibility to herpes simplex virus infection Immunodeficiency with susceptibility to HPV infection Immunodeficiency with susceptibility to mycobacterial disease Immunodeficiency with susceptibility to viral infections Immunodeficiency with thymoma Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-epilepsy syndrome Immunodeficiency-intellectual disability syndrome Immunodeficiency-microcephaly syndrome Immunodeficiency-short stature-facial dysmorphism syndrome Immunotherapy induced hypophysitis Imperforate oropharynx-costovertebral anomalies syndrome Imprinting disorders Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Incomplete septal cirrhosis Indeterminate cell histiocytosis Indolent B-cell non-Hodgkin lymphoma Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indomethacin embryofetopathy Infant botulism Infantile apnea Infantile bilateral striatal necrosis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome Infantile CLN1 disease Infantile CLN2 disease Infantile convulsions and choreoathetosis Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile epileptic spasms syndrome Infantile epileptic-dyskinetic encephalopathy Infantile esotropia Infantile facioscapulohumeral muscular dystrophy Infantile free sialic acid storage disease Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis Infantile hemangioma Infantile hepatocerebral mitochondrial DNA depletion syndrome Infantile hypophosphatasia Infantile hypotonia with psychomotor retardation Infantile idiopathic scoliosis Infantile Krabbe disease Infantile liver failure syndrome type 1 Infantile liver failure syndrome type 2 Infantile liver failure syndrome type 3 Infantile liver failure syndrome type 4 Infantile liver failure syndrome type 5 Infantile liver failure syndrome type 6 Infantile malignant osteopetrosis Infantile neuroaxonal dystrophy Infantile onset ascending hereditary spastic paralysis Infantile onset epileptic encephalopathy Infantile onset sialidosis Infantile onset spinal muscular atrophy with respiratory distress Infantile onset spinocerebellar ataxia Infantile spasms syndrome Infantile spondylocostal dysostosis Infantile systemic hyalinosis Infantile systemic lupus erythematosus Infantile tremor syndrome Infantile unilateral striatal necrosis Infantile visceral leishmaniasis Infantile-onset inflammatory bowel disease Infantile-onset multisystem neurologic endocrine pancreatic disease Infantile-onset spinocerebellar degeneration Infantile-onset X-linked spinal muscular atrophy Infectious aortitis Infectious crystalline keratopathy Infectious scleritis Infective Endocarditis Infective myocarditis Inferior Vena-caval Obstruction Inflammatory aortic aneurysm Inflammatory Bowel Disease Inflammatory bowel disease associated with immunodeficiency Inflammatory bowel disease due to IL10 deficiency Inflammatory bowel disease due to IL10 receptor deficiency Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory pseudotumor of kidney Inflammatory pseudotumor of liver Inflammatory pseudotumor of lung Inflammatory pseudotumor of orbit Inflammatory pseudotumor of spleen Inflammatory/autoimmune disorder involving the lacrimal system Infundibulo-neurohypophysitis Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing lymphoproliferative syndrome Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited digestive cancer-predisposing syndrome Inherited epidermodysplasia verruciformis Inherited epidermolysis bullosa Inherited gynecological cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome Inherited human prion disease Inherited ichthyosis Inherited ichthyosis syndromic form Inherited isolated adrenal insufficiency due to STAR deficiency Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, biventricular form Inherited isolated arrhythmogenic cardiomyopathy, left dominant form Inherited isolated arrhythmogenic ventricular cardiomyopathy Inherited nervous system cancer-predisposing syndrome Inherited renal cancer-predisposing syndrome Inherited retinal disorder Inherited zinc deficiency Iniencephaly Inoculation botulism INPP5K-related syndrome Insulin autoimmune syndrome Insulin Resistance Insulin-resistance syndrome type A Insulin-resistance syndrome type B Int22h1/Int22h2 mediated-Xq28 microduplication syndrome Integrinopathy Intellectual disability associated with fragile site FRAXE Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability, Buenos-Aires type Intellectual disability, Mietens-Weber type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome Intellectual disability-craniofacial dysmorphism-cardiac defect syndrome Intellectual disability-craniofacial dysmorphism-short stature syndrome Intellectual disability-craniofacial dysmorphism-skeletal anomalies syndrome Intellectual disability-epilepsy-movement disorder syndrome Intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Intellectual disability-facial dysmorphism-skeletal anomalies syndrome Intellectual disability-hearing loss syndrome Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intellectual disability-macrocephaly syndrome Intellectual disability-microcephaly syndrome Intellectual disability-motor delay syndrome Intellectual disability-myopathy syndrome Intellectual disability-ocular anomalies syndrome Intellectual disability-spasticity syndrome Interatrial communication Intercostal nerve syndrome Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate atrioventricular septal defect Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate Charcot-Marie-Tooth disease Intermediate collagen VI-related muscular dystrophy Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate generalized junctional epidermolysis bullosa Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate uveitis Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent Claudication Intermittent hydrarthrosis Intermittent maple syrup urine disease Internal carotid absence Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interstitial lung disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to NKX2-1 mutation Interstitial lung disease due to surfactant protein B deficiency Interstitial lung disease due to surfactant protein C deficiency Interstitial pneumonia with autoimmune features Interstitial pulmonary fibrosis associated with telomerase defect Intervertebral Disc Rupture Intestinal duplication Intestinal epithelial dysplasia Intestinal epithelial dysplasia, syndromic form Intestinal failure Intestinal lymphangiectasia Intestinal malrotation Intestinal neuronal dysplasia Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intestinal pseudo-obstruction Intestinal pseudo-obstruction, chronic idiopathic Intestinal pseudo-obstruction, familial visceral myopathy type Intestinal pseudo-obstruction, familial visceral neuropathy type Intestinal vascular malformation Intracranial aneurysm, familial Intracranial calcification syndrome Intracranial germinoma Intracranial hypertension, idiopathic Intracranial lipoma Intracranial meningioma, familial Intracranial teratoma Intrauterine Growth Restriction Intrinsic factor deficiency Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease Isochromosome Y syndrome Isochromosomy Yp syndrome Isochromosomy Yq syndrome Isolated absence of both forearm and hand Isolated absence of both lower leg and foot Isolated absence of thigh and lower leg with foot present Isolated absence of upper arm and forearm with hand present Isolated absence/hypoplasia of fingers excluding thumb, unilateral Isolated acheiria Isolated acheiropodia Isolated adrenal medullary hyperplasia Isolated agenesis of gallbladder Isolated amelia of lower limb Isolated amelia of upper limb Isolated amyelia Isolated anal canal duplication Isolated angioid streaks Isolated ankyloblepharon filiforme adnatum Isolated anogenital granulomatosis Isolated anterior cervical hypertrichosis Isolated apodia Isolated arhinencephaly Isolated arrhinia Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated atrial septal defect Isolated atrioventricular block, congenital Isolated basilar invagination Isolated bilateral renal agenesis Isolated brachydactyly type A1 Isolated brachydactyly type A2 Isolated brachydactyly type A3 Isolated brachydactyly type B Isolated brachydactyly type C Isolated brachydactyly type D Isolated brachydactyly type E Isolated bronchogenic cyst Isolated congenital diaphragmatic hernia Isolated congenital ptosis Isolated congenital pulmonary airway malformation Isolated congenital tracheal stenosis Isolated coronal craniosynostosis Isolated craniosynostosis Isolated ectopia lentis Isolated familial exudative vitreoretinopathy Isolated generalized epilepsy Isolated hemihyperplasia Isolated hypogonadotropic hypogonadism Isolated lateral meningocele Isolated left bronchial isomerism Isolated left pulmonary artery sling Isolated left ventricular noncompaction Isolated levocardia Isolated lissencephaly type 1 without known genetic defects Isolated lower lip fistula Isolated lower lip pits Isolated macular dystrophy Isolated median cleft face syndrome Isolated megalencephaly Isolated megalopapilla Isolated melanocytic schwannoma Isolated melanotic schwannoma Isolated mesenteric lipodystrophy Isolated mesenteric vein thrombosis Isolated metopic and sagittal craniosynostosis Isolated metopic craniosynostosis Isolated micronodular adrenocortical disease Isolated microspherophakia Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated multicystic dysplastic kidney Isolated nail clubbing Isolated nephrogenic diabetes insipidus Isolated neural tube defect Isolated neuronal ceroid lipofuscinosis Isolated noncompaction cardiomyopathy Isolated oligodontia Isolated osteogenesis imperfecta Isolated partial atrioventricular septal defect Isolated patent ductus arteriosus Isolated Pierre Robin sequence with developmental delay Isolated pituitary hormone deficiency Isolated posterior cervical hypertrichosis Isolated postnatal microcephaly Isolated primary microcephaly Isolated pulmonary artery of ductal origin Isolated pulmonary capillaritis Isolated pulmonary valve stenosis Isolated pyramidal syndrome Isolated radial ray defect Isolated renal magnesium wasting Isolated rhombencephalosynapsis Isolated right atrial isomerism Isolated right ventricular hypoplasia Isolated sagittal craniosynostosis Isolated sedoheptulokinase deficiency Isolated segmental infantile hemangioma Isolated small intestine duplication Isolated splenic vein thrombosis Isolated splenogonadal fusion Isolated split hand-split foot malformation Isolated spontaneous cervical artery dissection Isolated stationary inherited retinal disorder Isolated sternocostoclavicular hyperostosis Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated tetra-amelia Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated tibial hemimelia Isolated tibio-fibular synostosis Isolated total cerebellar vermis agenesis Isolated tracheoesophageal fistula Isolated transitional filum lipoma Isolated tubular duplication of the esophagus Isolated ulnar hemimelia Isolated unilateral hemispheric cerebellar hypoplasia Isolated unisquamosal craniosynostosis Isolated unisutural craniosynostosis Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isolated vitreoretinopathy Isomerism of left atrial appendage Isosporiasis Isotretinoin syndrome Isotretinoin-like syndrome ISPD-related limb-girdle muscular dystrophy R20 ISSD ITK deficiency ITM2B amyloidosis ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ITPN IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr Syndrome Jackson-Weiss Syndrome Jaffe-Campanacci Syndrome Jaffe-Lichtenstein Disease Jagell-Holmgren-Hofer Syndrome Jamaican Vomiting Sickness Jancar Syndrome Jankovic-Rivera Syndrome Jansen-de Vries Syndrome Jaw-Winking Syndrome Jawad Syndrome Jeavons Syndrome Jejunal Atresia Microcephaly Ocular Anomalies Syndrome Jessner Lymphocytic Infiltration of the Skin Johnson Neuroectodermal Syndrome Johnson Syndrome Johnson-McMillin Syndrome Johnson-Munson Syndrome Johnston-Aarons-Schelley Syndrome Joint Instability Syndrome Jones Syndrome Joubert Syndrome with Ocular Defect Joubert Syndrome with Renal Defect Joubert Syndrome with Retinopathy Juberg-Hayward Syndrome Junctional Ectopic Tachycardia Junctional Epidermolysis Bullosa, Disentis Type Junctional Epidermolysis Bullosa, Herlitz Type Junctional Epidermolysis Bullosa, non-Herlitz Localized Type Jung Syndrome Junin Hemorrhagic Fever Jussieu Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Aponeurotic Fibromatosis Juvenile Bone Cyst Juvenile Canavan Disease Juvenile Cataract Microcornea Renal Glucosuria Syndrome Juvenile Charcot Disease Juvenile CLN Disease Juvenile Dermatomyositis Juvenile Elastoma without Osteopoikilosis Juvenile Enthesitis-Related Arthritis Juvenile Gastrointestinal Polyposis Juvenile Glaucoma Juvenile GM1 Gangliosidosis Juvenile Hemochromatosis Juvenile Hyaline Fibromatosis Juvenile Idiopathic Inflammatory Myopathy Juvenile Inflammatory Arthritis Juvenile Intestinal Polyposis Juvenile Lou Gehrig Disease Juvenile Muscular Atrophy of the Distal Upper Limb Juvenile Myasthenia Gravis Juvenile Nasopharyngeal Angiofibroma Juvenile Nephronophthisis Juvenile Nephropathic Cystinosis Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Osteoporosis Juvenile Overlap Myositis Juvenile Paget Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Juvenile Periodontitis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis of Infancy Juvenile Polyposis Syndrome Juvenile Primary Lateral Sclerosis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juvenile-onset Diabetes Mellitus Central and Peripheral Neurodegeneration Syndrome Juvenile-onset Multiple Carboxylase Deficiency Juvenile-onset Myotonic Dystrophy Type 1 Juvenile-onset Steinert Disease Juvenile-onset Vitelliform Macular Dystrophy Juxtaposition of the Atrial Appendages K+-aggravated myotonia Kabuki Syndrome Kaeser syndrome Kagami-Ogata syndrome Kaler-Garrity-Stern syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karsch-Neugebauer syndrome Karyomegalic interstitial nephritis Kasabach-Merritt phenomenon KAT5-related neurodevelopmental disorder KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome KAT6A syndrome KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome Kaya-Barakat-Masson syndrome Kaya-Prontera syndrome KBG syndrome KCNE1-related isolated congenital long QT syndrome KCNE2-related isolated congenital long QT syndrome KCNH2-related isolated congenital long QT syndrome KCNK9 imprinting syndrome KCNQ1-related isolated congenital long QT syndrome KCNQ2-related developmental and epileptic encephalopathy KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM5C-related syndromic X-linked intellectual disability Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Paterson syndrome Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratinopathic ichthyosis Keratitis fugax hereditaria Keratitis-ichthyosis-deafness syndrome Keratoconjunctivitis Sicca Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratoendotheliitis fugax hereditaria Keratolytic winter erythema Keratomycosis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris varians of Wachters Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantaris-esophageal syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis pilaris atrophicans Kerion celsi Kernicterus Kernicterus spectrum disorder Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Kidney dysplasia Kidney dysplasia, bilateral Kidney dysplasia, unilateral Kidney tubulopathy-dilated cardiomyopathy syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kilquist syndrome Kimura disease Kindler epidermolysis bullosa Kindler syndrome Kinetic abnormalities of the acetylcholine receptor King-Denborough syndrome Kinsbourne syndrome Kjellin syndrome carcinoma syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Crisponi/cold induced sweating-like syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klinefelter Syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil Syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome KMT2B-related dystonia KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT5B haploinsufficiency neurodevelopmental disorder Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohler disease Kohlschütter-Tönz syndrome Kok disease Kommerell diverticulum Komuragaeri disease Koolen-De Vries syndrome Kopysc-Barczyk-Krol syndrome Kosaki overgrowth syndrome Kosenow syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krasnow-Qazi syndrome Krause-Kivlin syndrome Krebs cycle disorder Kreiborg-Pakistani syndrome KRT1-related diffuse NEPPK KRT1-related diffuse nonepidermolytic keratoderma Kufor-Rakeb syndrome Kufs disease type B Kugelberg-Welander disease Kunze-Riehm syndrome Kuru Kuskokwim syndrome Kuzniecky syndrome Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome Kyphosis-lateral tongue atrophy myofibrillar myopathy syndrome Küttner tumor Köhlmeier-Degos disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-ferritin deficiency L-glyceric aciduria L1 syndrome La Crosse encephalitis Laband syndrome Labrune syndrome Lacrimal drainage system anomaly Lacrimal drainage system anomaly of genetic origin Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LADD syndrome Ladda-Zonana-Ramer syndrome Laing distal myopathy LAMA2-related muscular dystrophy LAMA5-related multisystemic syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related late-onset muscular dystrophy Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Laminopathy Laminopathy with lipodystrophy Laminopathy with peripheral neuropathy Laminopathy with premature aging Laminopathy with striated muscle involvement LAMM syndrome Landau-Kleffner syndrome Landing disease Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans Cell Histiocytosis Langerhans cell sarcoma Laparoschisis LARD syndrome Large cell lymphoma of the mediastinum Large granular lymphocyte leukemia Large segmental hemangioma Large/giant congenital melanocytic nevus Laron syndrome with immunodeficiency Laron-like syndrome Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx anomaly Larynx atresia Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile neuronal ceroid lipofuscinosis type 1 Late infantile neuronal ceroid lipofuscinosis type 10 Late infantile neuronal ceroid lipofuscinosis type 2 Late infantile neuronal ceroid lipofuscinosis type 5 Late infantile neuronal ceroid lipofuscinosis type 6 Late infantile neuronal ceroid lipofuscinosis type 8 Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset brain arteriovenous fistula Late-onset citrullinemia type 1 Late-onset combined immunodeficiency due to ICOS deficiency Late-onset combined immunodeficiency due to ICOSL deficiency Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset familial encephalopathy with neuroserpin inclusion bodies Late-onset familial hyperreninemic hypoaldosteronism Late-onset familial hypoaldosteronism Late-onset focal dermal elastosis Late-onset idiopathic chronic pancreatitis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset myotonic dystrophy type 1 Late-onset nephronophthisis Late-onset Pompe disease Late-onset primary lymphedema without systemic or visceral involvement Late-onset retinal degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset spinal arteriovenous fistula Late-onset spinal motor neuronopathy Late-onset SPMD with hyaline bodies Late-onset Tay-Sachs disease Lateral facial cleft Lateral meningocele syndrome Lathosterolosis Lattice corneal dystrophy type 1 Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome Lead poisoning Learman syndrome Leber miliary aneurysm Leber optic atrophy Leber plus disease Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left atrial isomerism Left Atrial Isomerism Left bronchial isomerism without heterotaxy Left coronary artery from right aortic sinus Left isomerism Left renal vein entrapment syndrome Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac Saint-Jean type Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminata Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome LEMD2-associated nuclear envelopathy with early progeroid appearance Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens position anomaly Lens position anomaly of genetic origin Lens shape anomaly Lens size anomaly Lens size anomaly of genetic origin Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia syndrome Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprosy Leprosy Leptomeningeal melanomatosis Leri pleonosteosis Léri-Weill dyschondrosteosis Lethal 1p36.33 deletion syndrome Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects Lethal chondrodysplasia Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal faciocardiomelic dysplasia Lethal fetal brain malformation duodenal atresia-bilateral renal hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis-hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephaly diaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal hyperkeratosis-contracture syndrome Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal midline granuloma Lethal multiple congenital anomalies-dysmorphic syndrome Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal polymalformative syndrome, Boissel type Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia pulmonary hypoplasia syndrome Lethal tight skin-contracture syndrome Letrozole toxicity Leucoplakia - Oral / Hairy Leukaemia Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy Leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy with oligodontia Leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levocardia Levocardia with situs inversus Levy-Hollister syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LGMD D5 collagen VI-related dystrophy LGMD R22 collagen VI-related dystrophy Lhermitte-Duclos disease Li-Fraumeni syndrome Liang-Wang syndrome Liberfarb syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen myxedematosus Lichen planopilaris Lichen planus Lichen planus pemphigoides Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Limb body wall complex Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 2X Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to BVES deficiency Limb-girdle muscular dystrophy due to BVES deficiency (BVES-related LGMD) Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2B Limb-girdle muscular dystrophy type 2C Limb-girdle muscular dystrophy type 2D Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2G Limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy type 2M Limb-girdle muscular dystrophy type 2N Limb-girdle muscular dystrophy type 2O Limb-girdle muscular dystrophy type 2P Limb-girdle muscular dystrophy type 2Q Limb-girdle muscular dystrophy type 2S Limb-girdle muscular dystrophy type 2T Limb-girdle muscular dystrophy type 2U Limb-girdle muscular dystrophy type 2X Limb-girdle muscular dystrophy type 2Y Limb-girdle muscular dystrophy type 2Z Limb-girdle muscular dystrophy type D4 Limb-girdle muscular dystrophy type R23 Limb-girdle muscular dystrophy type R24 Limb-girdle muscular dystrophy type R28 Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophy-intellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis Limbic encephalitis-neuromyotonia syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Limit dextrinosis Limited cutaneous systemic sclerosis Limited dorsal myeloschisis Lindau disease Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear IgA dermatosis Linear lichen planus Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy Lipid storage disease Lipid storage myopathy Lipoamide dehydrogenase deficiency Lipoate biosynthesis defect Lipoatrophia semicircularis Lipoatrophy caused by injected drug Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid Nephrosis Lipoid Proteinosis Lipoid proteinosis Lipoma of the filum terminale Lipomatosis dolorosa Lipomatous flat limited dorsal myeloschisis Lipomatous mesenteritis Lipomatous non-saccular limited dorsal myeloschisis Lipomucopolysaccharidosis Lipoprotein deficiency Lipoprotein glomerulopathy Lipoprotein lipase deficiency Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisch nodules Lisch syndrome Lisker-Garcia-Ramos syndrome Lison syndrome Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, Norman Roberts type Lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 Lissencephaly type 2 with muscular and ocular involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Littoral cell angioma of the spleen Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis with summer ulcerations Livedo reticularis-cerebrovascular accident syndrome Livedo-like dermatitis Livedoid vasculopathy Liver Abscess Liver adenomatosis Liver cirrhosis due to metabolic disease Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Liver Failure Liver fibrosis Liver fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Liver glycogen phosphorylase deficiency LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy Lobar holoprosencephaly Lobstein disease LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa, acral form Localized dystrophic epidermolysis bullosa, nails only Localized dystrophic epidermolysis bullosa, pretibial form Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized intravascular coagulation Localized junctional epidermolysis bullosa Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lipodystrophy Localized pagetoid reticulosis Localized pleural mesothelioma Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Loiasis Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Long QT syndrome type 5 Long QT syndrome type 6 Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Loricrin keratoderma Lou Gehrig disease Loucks-Innes syndrome Louis-Bar syndrome Low oxygen affinity alpha chain hemoglobin disease Low oxygen affinity beta chain hemoglobin disease Low oxygen affinity gamma chain hemoglobin disease Low oxygen affinity hemoglobin disease Low phospholipid-associated cholelithiasis Low resistance capillary malformation Low-flow priapism Low-flow vascular malformation of the bone Low-grade appendiceal mucinous neoplasm Low-grade astrocytoma Low-grade neuroendocrine tumor of the corpus uteri Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe-Kohn-Cohen syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower limb hypertrophy Lower limb malformation hypospadias syndrome Lower motor neuron syndrome with late-adult onset Lower urinary tract obstruction Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LQTS type 8 LRP5-related primary osteoporosis LTC4 synthase deficiency Lubag disease Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lucey-Driscoll syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung Carcinoma Lung fibrosis immunodeficiency-46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Luscan-Lumish syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Lyell syndrome Lyme borreliosis Lymphangioma Lymphatic filariasis Lymphatic-venous malformation Lymphedema with yellow nails Lymphedema-atrial septal defects-facial changes syndrome Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome Lymphedema-lymphangiectasia intellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic mastitis Lymphocytic mastopathy Lymphocytic variant HES Lymphoepithelial cyst of the pancreas Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid eosinophilic syndrome Lymphoid hemopathy Lymphoid HES Lymphoid interstitial pneumonia Lymphoma Lymphoma Lymphoma Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lymphoproliferative disease associated with primary immune disease Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome Lysine alpha-ketoglutarate reductase deficiency Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal alpha-D-mannosidase deficiency, juvenile form Lysosomal disease Lysosomal disease with epilepsy Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy Lysosomal glycogen storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal involvement Lysosomal storage disorder due to saposin B deficiency Lysozyme amyloidosis Lysyl hydroxylase-deficient EDS Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-congenital heart disease-facial dysmorphism syndrome Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular noncompaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADA MADaM MADD MADD, mild type MADD, severe neonatal type MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome Maffucci syndrome with spindle cell hemangiomas MAGIC syndrome Magnesium transporter defect-intellectual disability syndrome Magnetic gait disorder Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major congenital anomaly syndrome, multiple Major depressive disorder, familial early-onset type Major histocompatibility complex class I deficiency Major histocompatibility complex class II deficiency Major omphalocele Makrydimas syndrome Mal de débarquement Mal de Meleda Malabsorption Malakoplakia Malan overgrowth syndrome Malaria, congenital Malaria, severe complicated type Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to chromosome Y microdeletion Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Malformation of the anal canal and the rectum Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the esophagus Malformation of the intestine Malformation of the neurenteric canal, spinal cord and column Malformation of the stomach and the duodenum Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant blue nevus Malignant carcinoid syndrome Malignant chondroid syringoma Malignant cutaneous adnexal tumor, unspecified Malignant cylindroma Malignant eccrine poroma Malignant eccrine spiradenoma Malignant epithelial tumor of ovary Malignant epithelial tumor of pancreas Malignant epithelial tumor of stomach Malignant germ cell tumor of ovary Malignant germ cell tumor of testis Malignant glomus tumor Malignant granular cell tumor Malignant hidradenoma Malignant mesenchymal tumor of bladder Malignant mesenchymal tumor of uterus Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor Malignant myoepithelioma Malignant nodular hidradenoma Malignant odontogenic tumor Malignant ossifying fibromyxoid tumor Malignant otitis externa Malignant ovarian stromal tumor Malignant PEComa Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant perivascular epithelioid cell tumor Malignant pertussis Malignant pilomatricoma Malignant pleural tumor, rare type Malignant proliferating trichilemmal tumor Malignant renal epithelial tumor Malignant rhabdoid tumor Malignant rhabdoid tumor of kidney Malignant rhabdoid tumor of liver Malignant rhabdoid tumor of soft tissue Malignant smooth muscle tumor Malignant spiradenoma Malignant stromal tumor of gastrointestinal tract Malignant trichoblastoma Malignant triton tumor Malignant tumor of adrenal cortex Malignant tumor of bile duct Malignant tumor of bone, rare type Malignant tumor of brain, rare type Malignant tumor of gallbladder Malignant tumor of larynx, rare type Malignant tumor of liver, rare type Malignant tumor of lung, rare type Malignant tumor of nasal cavity Malignant tumor of pancreas, rare type Malignant tumor of paranasal sinus Malignant tumor of skin, rare type Malignant tumor of small intestine Malignant tumor of spleen Malignant tumor of thymus Malignant tumor of thyroid gland, rare type Malignant tumor of trachea Malignant tumor of ureter Malignant tumor of urethra Malignant tumor of vulva, rare type Malignant vascular tumor, rare type Mandibulo-palpebral synkinesisptosis syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, GuionAlmeida type Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosidase alpha class 2B member 2-congenital disorder of glycosylation Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle zone lymphoma MAP Map-dot-fingerprint dystrophy Marbach-Rustad progeroid syndrome Marbach-Schaaf neurodevelopmental syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan Syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome Marfanoid habitus-inguinal herniaadvanced bone age syndrome Marfanoid syndrome, De Silva type Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome type 2 Maroteaux type acromesomelic dysplasia Maroteaux-Lamy-like syndrome Maroteaux-type spondyloepimetaphyseal dysplasia Marrow hypoplasia with immunodeficiency syndrome Marshall syndrome Marshall-Smith syndrome Martinez-Frias syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastitis Mastocytoma Mastocytosis, systemic with associated hematologic neoplasm Mastocytosis, diffuse cutaneous Mastocytosis, indolent systemic Mastocytosis, smoldering systemic Mastocytosis, systemic aggressive type Mastocytosis-associated hematologic neoplasm Maternal uniparental disomy 14 syndrome Maternal uniparental disomy 15 syndrome Maternal uniparental disomy 20 syndrome Maternal uniparental disomy 7 syndrome Mathieu-De Broca-Bony syndrome Matthews syndrome May-Hegglin anomaly May-Hegglin anomaly variant May-Hegglin anomaly with Döhlelike bodies Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MBD5-associated neurodevelopmental disorder McArdle disease McArdle disease, late-onset form McArdle disease, severe infantile form McCune-Albright-like syndrome McDonough syndrome McKusick type metaphyseal chondrodysplasia McLeod neuroacanthocytosis syndrome McLeod syndrome with cardiomyopathy McLeod syndrome with cardiomyopathy and arrhythmia McLeod syndrome with hematologic and neurologic features McLeod syndrome with hematological abnormalities McLeod syndrome with multisystem involvement McLeod syndrome with neurodegeneration McLeod syndrome with neuropsychiatric features McLeod syndrome with progressive neurodegeneration McLeod syndrome McLeod syndrome with ataxia McLeod syndrome with autonomic dysfunction McLeod syndrome with behavioral disorder McLeod syndrome with cardiac involvement McLeod syndrome with chorea McLeod syndrome with cognitive impairment McLeod syndrome with dysarthria McLeod syndrome with dysphagia McLeod syndrome with dystonia McLeod syndrome with early-onset presentation McLeod syndrome with elevated creatine kinase McLeod syndrome with extrapyramidal features McLeod syndrome with hemolytic anemia McLeod syndrome with incomplete penetrance McLeod syndrome with late-onset presentation McLeod syndrome with movement disorder McLeod syndrome with muscle weakness McLeod syndrome with muscular involvement McLeod syndrome with myopathy McLeod syndrome with peripheral blood abnormalities McLeod syndrome with peripheral neuropathy McLeod syndrome with psychiatric and neurological features McLeod syndrome with psychiatric manifestations McLeod syndrome with seizures McLeod syndrome with spasticity McLeod syndrome with tremor McLeod syndrome with variable expressivity McLeod syndrome, atypical form McLeod syndrome, X-linked Meckel-like syndrome Meckel-like syndrome type 1 Meckel-like syndrome type 2 Meckel-like syndrome type 3 Meckel-like syndrome type 4 Meckel-like syndrome type 5 Meckel-like syndrome type 6 Meckel-like syndrome type 7 Meckel-like syndrome type 8 Meckel-like syndrome type 9 Meconium ileus Meconium ileus equivalent Meconium peritonitis Medial tibial stress syndrome Median arcuate ligament syndrome Median cleft lip Median cleft mandible Median facial cleft syndrome Median nail dystrophy Median raphe cyst Mediastinal non-seminomatous germ cell tumor Mediastinal Fibrosis Mediastinal germ cell tumor Mediastinal Granuloma Mediastinal seminoma Mediastinitis, chronic fibrosing type Medulloblastoma, rare subtype Meesmann corneal dystrophy Meester-Loeys syndrome MEF2C-related syndrome Mega-cisterna magna Megacalycosis Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemiaimmunodeficiency due to folate transporter 1 deficiency Megaloblastic Anaemia Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Megaoesophagus Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome MEI Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome MEITL Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of choroid Melanoma of soft tissue Melanoma of uvea Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS syndrome with lactic acidosis MELAS syndrome with ocular involvement MELAS syndrome with renal involvement MELAS syndrome with gastrointestinal involvement MELAS syndrome with multisystem involvement MELAS syndrome with cardiomyopathy MELAS syndrome with cardiomyopathy and arrhythmia MELAS syndrome with diabetes MELAS syndrome with endocrine dysfunction MELAS syndrome with epilepsy MELAS syndrome with hearing loss MELAS syndrome with movement disorder MELAS syndrome with myopathy MELAS syndrome with neuropathy MELAS syndrome with progressive neurodegeneration MELAS syndrome with psychiatric manifestations MELAS syndrome with stroke-like episodes MELAS syndrome, atypical form MELAS syndrome, childhood-onset type MELAS syndrome, late-onset type MELAS syndrome, maternally inherited form MELAS-like syndrome Meleda disease Melhem-Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melphalan-induced pulmonary toxicity Melphalan-related acute myeloid leukemia Melphalan-related myelodysplastic syndrome Membranoproliferative glomerulonephritis Membranous aplasia cutis congenita Membranous nephropathy, idiopathic Membranous nephropathy, secondary Membranous cataract Membranous glomerulonephritis Mendelian susceptibility to mycobacterial disease, IL-12 p40 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?1 deficiency Mendelian susceptibility to mycobacterial disease, IRF8 deficiency Mendelian susceptibility to mycobacterial disease, ISG15 deficiency Mendelian susceptibility to mycobacterial disease, NEMO deficiency Mendelian susceptibility to mycobacterial disease, STAT1 deficiency Mendelian susceptibility to mycobacterial disease, autosomal dominant form Mendelian susceptibility to mycobacterial disease, autosomal recessive form Mendelian susceptibility to mycobacterial disease, complete IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, IFN-? pathway defect, unspecified Mendelian susceptibility to mycobacterial disease, IFN-gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?2 deficiency Mendelian susceptibility to mycobacterial disease, JAK1 deficiency Mendelian susceptibility to mycobacterial disease, JAK2 deficiency Mendelian susceptibility to mycobacterial disease, partial IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, ROR?T deficiency Mendelian susceptibility to mycobacterial disease, SPPL2A deficiency Mendelian susceptibility to mycobacterial disease, TYK2 deficiency Mendelian susceptibility to mycobacterial disease, X-linked form Mendelian susceptibility to mycobacterial infections Ménétrier disease Mengel-Konigsmark syndrome Meniere's Disease Meningeal Haemorrhage Meningeal melanocytoma Meningioma Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menke-Hennekam syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERS Mesangiocapillary glomerulonephritis Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenchymal hamartoma of liver Mesenteric Adenitis Mesenteric lipogranuloma Mesenteric panniculitis Mesenteric Vein Thrombosis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, KozlowskiReardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma of the tunica vaginalis Mesulam syndrome Metabolic myopathy due to carnitine palmitoyltransferase I deficiency Metabolic myopathy due to carnitine palmitoyltransferase II deficiency Metabolic myopathy due to coenzyme Q10 deficiency Metabolic myopathy due to glycerol kinase deficiency Metabolic myopathy due to mitochondrial trifunctional protein deficiency Metabolic myopathy due to mitochondrial DNA depletion syndrome Metabolic myopathy due to mitochondrial respiratory chain defect Metabolic myopathy due to multiple acyl-CoA dehydrogenase deficiency Metabolic myopathy due to neutral lipid storage disease Metabolic myopathy due to phosphoglycerate kinase deficiency Metabolic myopathy due to phosphoglycerate mutase deficiency Metabolic myopathy due to primary carnitine deficiency Metabolic neurotransmission anomaly with epilepsy Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic diseases with epilepsy Metabolic myopathy Metabolic myopathy due to betaenolase deficiency Metabolic myopathy due to fatty acid oxidation disorder Metabolic myopathy due to glycogen storage disease type IX Metabolic myopathy due to glycogen storage disease type V Metabolic myopathy due to glycogen storage disease type VII Metabolic myopathy due to lactate dehydrogenase deficiency Metabolic myopathy due to lactate transporter defect Metabolic myopathy due to phosphofructokinase deficiency Metabolic myopathy due to pyruvate carboxylase deficiency Metabolic myopathy due to pyruvate dehydrogenase deficiency Metabolic myopathy due to very long-chain acyl-CoA dehydrogenase deficiency Metabolic myopathy with exercise intolerance Metabolic myopathy with recurrent rhabdomyolysis Metabolic myopathy, unspecified Metachondromatosis Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Rosenberg type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal anadysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metastases without primary tumor Metastatic vascular neoplasm Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methionine adenosyltransferase I/ III deficiency Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylenetetrahydrofolate dehydrogenase 1 deficiency Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic aciduria, intermediate type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to MMAA deficiency Methylmalonic aciduria due to MMAB deficiency Methylmalonic aciduria due to MMADHC deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria, cblD type Methylmalonic aciduria, cblH type Methylmalonic aciduria, cblX type Methylmalonic aciduria, combined type Methylmalonic aciduria, isolated type Methylmalonic aciduria, neonatal type Methylmalonic aciduria, vitamin B12-responsive type Methylmalonyl-CoA epimerase deficiency Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA racemase deficiency Methylthioadenosine phosphorylase deficiency Metronidazole neurotoxicity Metronidazole-induced encephalopathy Mevalonate kinase deficiency Mevalonic aciduria Mevalonic aciduria, mild type Mevalonic aciduria, severe type Mexican type sialidosis Mianserin-induced agranulocytosis Micrencephaly Microangiopathic hemolytic anemia Microangiopathy, retinal Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic primordial dwarfism type I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type III Microcephalic osteodysplastic primordial dwarfism type IV Microcephaly with early-onset seizures and developmental delay Microcephaly with spastic quadriplegia Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 10 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 12 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 13 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 14 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 15 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 2 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 25 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 26 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 27 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 28 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 29 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 3 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 34 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 35 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 36 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 37 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 38 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 39 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 4 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 40 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 5 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 6 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 7 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 8 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 9 Microcephaly with or without chorioretinopathy, lymphoedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 16 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 17 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 18 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 19 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 20 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 21 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 22 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 23 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 24 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 30 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 31 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 32 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 33 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 41 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 42 Microcephaly with pontine and cerebellar hypoplasia Microcephaly with simplified gyral pattern Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-chorioretinopathy syndrome Microcephaly-corpus callosum agenesis-intellectual disability syndrome Microcephaly-deafness syndrome Microcephaly-epilepsy syndrome Microcephaly-eye anomalies syndrome Microcephaly-facial dysmorphism syndrome Microcephaly-hypogonadism syndrome Microcephaly-intellectual disability syndrome, autosomal recessive type Microcephaly-lissencephaly syndrome Microcephaly-micromelia syndrome Microcephaly-seizures syndrome Microcephaly-short stature syndrome Microcephaly-simplified gyral pattern-epilepsy syndrome Microcephaly-spastic diplegia syndrome Microcephaly-spastic quadriplegia syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-spasticity syndrome Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic lymphatic malformation Microcystic infiltrating lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdeletion of the AZF region on the Y chromosome Microdontia-type I microtiadeafness syndrome Microduplication Xp11.22p11.23 syndrome Microduplication 17p12 Microform holoprosencephaly Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-motor delaylanguage delay-brain anomaliesdiaphragmatic hernia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microscopic polyangiitis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 syndrome Microvenular haemangioma Microvillus inclusion disease Micturation-induced seizures Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Midline cerebral malformation Midline cervical cleft Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mikati-Najjar-Sahli syndrome Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller Fisher syndrome Mills syndrome Milroy disease Minimal change nephropathy Minimal pigment oculocutaneous albinism type 1 MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome Mirizzi syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror-image polydactyly Miscarriage Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA MiT family translocation renal cell carcinoma Mitchell Syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial Disorder Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy- aminoacidopathy syndrome Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathycerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a largescale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial short-chain enoylCoA hydratase 1 deficiency Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral regurgitation-deafnessskeletal anomalies syndrome Mitral atresia Mitral Regurgitation Mitral Stenosis Mitral valve agenesis Mitral Valve Insufficiency Mitral Valve Prolapse Mitten hand Mixed autoinflammatory and autoimmune syndrome Mixed functioning pituitary adenoma Mixed AIHA Mixed connective-tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and nonneuroendocrine neoplasm of pancreas Mixed phenotype acute leukemia with t(9;22)(q34;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia, B/myeloid, NOS Mixed phenotype acute leukemia, T/myeloid, NOS Mixed polyposis syndrome Mixed-type autoimmune hemolytic anemia MKKS-related Bardet-Biedl syndrome MKS1-related Joubert syndrome MKS1-related Meckel syndrome MKX deficiency MLASA syndrome due to mitochondrial tyrosyl-tRNA synthetase deficiency MLASA syndrome due to pseudouridine synthase deficiency MLASA syndrome MMAA-related methylmalonic aciduria MMAB-related methylmalonic aciduria MMACHC-related methylmalonic aciduria with homocystinuria MMADHC-related methylmalonic aciduria with homocystinuria MMAF MME-related axonal neuropathy MME-related late-onset CharcotMarie-Tooth disease MMIHS MMIHS with congenital mydriasis MMN MNGIE syndrome Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MOGS-CDG Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptinmelanocortin pathway anomaly Monogenic SRNS Monomelic amyotrophy Monomorphic epitheliotropic intestinal T-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q Monosomy 11q23 deletion syndrome Monosomy 12p Monosomy 13q Monosomy 14q11.2 Monosomy 14q22q23 Monosomy 14q32 Monosomy 15q Monosomy 16p13.3 Monosomy 16q Monosomy 17p Monosomy 17p13.3 Monosomy 17q Monosomy 18p Monosomy 18q Monosomy 19p13.3 Monosomy 19q13 Monosomy 20p Monosomy 20q Monosomy 21q Monosomy 22q11.2 Monosomy 22q13 Monosomy X Monosomy X mosaicism Monosomy Xp Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan syndrome Mosaic genome-wide paternal uniparental disomy syndrome Mosaic paternal uniparental disomy of chromosome 11 Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 Mosaic variegated aneuploidy syndrome type 2 Mosaic Legius syndrome Mosaic monosomy X syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic schwannomatosis Mosaic trisomy 1 syndrome Mosaic trisomy 10 syndrome Mosaic trisomy 12 syndrome Mosaic trisomy 14 syndrome Mosaic trisomy 15 syndrome Mosaic trisomy 16 syndrome Mosaic trisomy 17 syndrome Mosaic trisomy 18 syndrome Mosaic trisomy 19 syndrome Mosaic trisomy 2 syndrome Mosaic trisomy 20 syndrome Mosaic trisomy 21 syndrome Mosaic trisomy 22 syndrome Mosaic trisomy 3 syndrome Mosaic trisomy 4 syndrome Mosaic trisomy 5 syndrome Mosaic trisomy 6 syndrome Mosaic trisomy 7 syndrome Mosaic trisomy 8 syndrome Mosaic trisomy 9 syndrome Mosaic trisomy X syndrome Mosaic trisomy Y syndrome Mosaicism with genome instability syndrome Motor Neuron Disease Mounier-Kuhn syndrome Mowat-Wilson syndrome Moyamoya angiopathy, idiopathic Moyamoya disease Moyamoya Disease Moyamoya disease with earlyonset achalasia Moynahan syndrome MPDU1-CDG MPI-CDG MRCS syndrome MSH3-related polyposis MT-ATP6-related mitochondrial spastic paraplegia MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Mu-heavy chain disease MUC1-related autosomal dominant tubulointerstitial kidney disease Mucinous adenocarcinoma of ovary Mucinous cystadenoma of childhood Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous venous malformations Mucocutaneous Candidiasis Mucolipidosis Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 10 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type IS Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucormycosis Mucosa-associated lymphoid tissue lymphoma Mucosulfatidosis Mucous membrane pemphigoid Mudd's disease Mueller-Weiss syndrome Mulibrey nanism Mullerian Duct Aplasia Multicentric carpotarsal osteolysis syndrome Multicentric Castleman disease Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic Dysplastic Kidney Multifocal papillary thyroid carcinoma Multifocal superficial thrombophlebitis Multifocal atrial tachycardia Multifocal epithelial hyperplasia Multifocal fibrosclerosis Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal osteomyelitis, chronic recurrent Multifocal renal cell carcinoma Multifocal skeletal tuberculosis Multifocal vascular malformations syndrome Multifocal ventricular arrhythmia Multiglandular parathyroid disease Multiminicore disease Multinodular and vacuolating neuronal tumor Multinodular goiter Multiple congenital anomalieshypotonia-seizures syndrome Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasiamacrocephaly-facial dysmorphism syndrome Multiple epiphyseal dysplasiaminiepiphyses syndrome Multiple epiphyseal dysplasiasevere proximal femoral dysplasia syndrome Multiple isolated café-au-lait syndrome Multiple keratoacanthoma, Ferguson-Smith type Multiple mtDNA deletion syndrome Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium-malignant hyperthermia syndrome Multiple self-healing squamous epithelioma Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple acyl-CoA dehydrogenase deficiency Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 7 Multiple evanescent white dot syndrome Multiple glomus tumors Multiple hamartoma syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism congenital heart defects syndrome Multiple keratoacanthoma Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple ossifying fibroma Multiple pterygium syndrome Multiple sclerosis variant Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple venous malformations (Bean syndrome) Multisystem inflammatory syndrome in children and adults Multisystem Langerhans cell histiocytosis Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Muscle enolase deficiency Muscle filaminopathy Muscle glycogen storage disease due to phosphoglucomutase deficiency Muscle glycogen storage disease with exercise intolerance Muscle LIM protein deficiency Muscle phosphofructokinase deficiency Muscle phosphoglycerate kinase deficiency Muscle phosphoglycerate mutase deficiency Muscle weakness-intellectual disability syndrome Muscle weakness-ocular abnormalities syndrome Muscle-eye-brain disease Muscle-eye-brain disease with cerebellar cysts Muscle-eye-brain disease with cobblestone lissencephaly Muscle-type phosphofructokinase deficiency Muscular dystrophy, Duchenne type Muscular dystrophy, EmeryDreifuss type Muscular dystrophy, oculopharyngeal type Muscular dystrophy, Becker type Muscular dystrophy, limb-girdle type Muscular dystrophy-dystroglycanopathy type A Muscular dystrophy-dystroglycanopathy type B Muscular dystrophy-dystroglycanopathy type C Muscular dystrophy-dystroglycanopathy type D Muscular dystrophy-dystroglycanopathy type E Muscular dystrophy-dystroglycanopathy type F Muscular dystrophy-dystroglycanopathy type G Muscular dystrophy-dystroglycanopathy type H Muscular dystrophy-dystroglycanopathy type I Muscular dystrophy-dystroglycanopathy type J Muscular dystrophy-dystroglycanopathy type K Muscular dystrophy-dystroglycanopathy type L Muscular dystrophy-dystroglycanopathy type M Muscular dystrophy-dystroglycanopathy type N Muscular dystrophy-dystroglycanopathy type O Muscular dystrophy-dystroglycanopathy type P Muscular dystrophy-dystroglycanopathy type Q Muscular dystrophy-dystroglycanopathy type R Muscular dystrophy-dystroglycanopathy type S Muscular dystrophy-dystroglycanopathy type T Muscular dystrophy-dystroglycanopathy type U Muscular dystrophy-dystroglycanopathy type V Muscular dystrophy-dystroglycanopathy type W Muscular dystrophy-dystroglycanopathy type X Muscular dystrophy-dystroglycanopathy type Y Muscular dystrophy-dystroglycanopathy type Z Muscular hypertrophy hepatomegaly-polyhydramnios syndrome Muscular hypotonia-intellectual disability syndrome Muscular pseudohypertrophy hypothyroidism syndrome Musculoskeletal dysplasia with retinal degeneration Musculoskeletal-pulmonary insufficiency syndrome Mutase deficiency, methylmalonylCoA Myasthenia gravis, neonatal transient Myasthenia gravis with thymoma Myasthenia gravis, autoimmune Myasthenia gravis, seronegative Myasthenic syndrome due to acetylcholine receptor deficiency Myasthenic syndrome due to DOK7 deficiency Myasthenic syndrome due to MuSK deficiency Myasthenic syndrome due to rapsyn deficiency Myasthenic syndrome, congenital Myasthenic syndrome, congenital with episodic apnea Myasthenic syndrome, congenital with fast-channel defect Myasthenic syndrome, congenital with slow-channel defect MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterial cutaneous infection Mycobacterial lymphadenitis Mycobacterial osteomyelitis Mycobacterium avium complex infection Mycobacterium abscessus infection Mycobacterium kansasii infection Mycobacterium marinum infection Mycophenolate mofetil embryopathy Mycophenolate-induced colitis Mycoplasma encephalitis Mycoplasma pneumoniae infection Mycoplasma-associated encephalitis Mycosis fungoides with folliculotropism Mycosis fungoides Mycosis fungoides Mycosis fungoides and variants Mycosis fungoides, Alibert-Bazin type Mycosis fungoides, erythrodermic type Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelic limited dorsal malformation Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelitis Myelocerebellar disorder Myelocystocele Myelodysplasia-infection restriction of growth-adrenal hypoplasiagenital anomalies-enteropathy syndrome Myelodysplastic neoplasm with increased blasts Myelodysplastic neoplasm with increased blasts type 1 Myelodysplastic neoplasm with increased blasts type 2 Myelodysplastic neoplasm with low blasts Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic Syndrome Myelodysplastic/ myeloproliferative disease Myeloid hemopathy Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative Disease Myeloproliferative neoplasm Myeloschisis MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myiasis MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myocardial Fibrosis Myocardial Infarction Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy of infancy Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-rimmed vacuoles type 13 Myofibrillar myopathy-titinopathy Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopathy with rimmed ubiquitin-positive autophagic vacuolation Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency Myosclerosis Myosin storage myopathy Myositis tropicans Myospherulosis Myotilinopathy Myotonia fluctuans Myotonia permanens Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 MYRF-related cardiac urogenital syndrome MYSM1 deficiency MYT1L-associated neurodevelopmental disorder MYT1L-related developmental delay-intellectual disability-obesity syndrome Myxofibrosarcoma Myxoid leiomyosarcoma Myxoid malignant fibrous histiocytoma Myxoid neurofibroma Myxoid pleomorphic liposarcoma Myxoid solitary fibrous tumor Myxoid/round cell liposarcoma Myxoinflammatory fibroblastic sarcoma Myxoma of heart Myxoma with fibrous dysplasia Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxomatous mitral valve disease Myxomatous tumor syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1-phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency N-methyl-D-aspartate receptor encephalitis Na channel myasthenia Na-H exchanger 3 deficiency Nabais Sa-de Vries type 1 syndrome Nabais Sa-de Vries type 2 syndrome Nablus mask-like facial syndrome NAD(P)HX dehydratase deficiency NAD(P)HX epimerase deficiency Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAGA deficiency Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail anomaly Nail-patella syndrome Nail-patella-like renal disease Naito-Oyanagi disease Nakagawa angioblastoma Nakamura-Osame syndrome Nance-Horan syndrome Nanophthalmos Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Narcissistic Personality Disorder Narcolepsy Narcolepsy type 1 Narcolepsy type 2 NARP syndrome Nasal dermoid sinus cyst Nasal dorsum fistula Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NCKAP1L-associated hyperinflammatory disorder NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiosis lipoidica Necrobiotic xanthogranuloma Necrolytic acral erythema Necrolytic Migratory Erythema Necrotizing autoimmune myositis Necrotizing cellulitis Necrotizing enterocolitis Necrotizing fasciitis Necrotizing myositis Necrotizing soft tissue infection NEDMABA disorder NEK9-related lethal skeletal dysplasia Nelson syndrome Nemaline myopathy NEMO deleted exon 5 autoinflammatory syndrome Neonatal acute respiratory distress due to surfactant protein deficiency Neonatal adrenoleukodystrophy Neonatal alloimmune neutropenia Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonatal compartment syndrome Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes mellitus Neonatal encephalomyopathy cardiomyopathy-respiratory distress syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Neonatal focal intestinal perforation Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal renal venous thrombosis Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal Volkmann ischemic contracture syndrome Neonatal-onset epilepsy syndrome Neonatal-onset multisystem inflammatory disease Neonatal-onset spinal arteriovenous fistula Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Neonate - Low Apgar Score Neonate - Post Term Neoplastic hypereosinophilic syndrome Nephritis Nephroblastoma Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephronophthisis Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathy-deafness hyperparathyroidism syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic Syndrome Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nestor-Guillermo progeria syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neural tube defect Neuralgic amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency Neuroacanthocytosis Neurocutaneous melanocytosis Neurocutaneous syndrome with epilepsy Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegeneration-spasticity cerebellar atrophy-cortical visual impairment syndrome Neurodegenerative disease with chorea Neurodegenerative disease with dementia Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Neurodevelopmental delaycongenital heart defects-intellectual disability syndrome Neurodevelopmental delayhypotonia-cerebellar ataxia-cardiac conduction defects syndrome Neurodevelopmental delayhypotonia-cerebellar atrophy-cardiac conduction defects syndrome Neurodevelopmental delayintellectual disability-ataxia-feeding difficulty syndrome Neurodevelopmental delayintellectual disability-skeletal defects syndrome Neurodevelopmental delayseizures-ophthalmic anomalies-osteopeniacerebellar atrophy syndrome Neurodevelopmental disorder due to KDM2B-CxxC domain mutation Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental disorder with hearing loss and spastic quadriplegia Neurodevelopmental disorder-slitlike lateral ventricles-intellectual disability syndrome Neurodevelopmental disorderbrain malformation-facial dysmorphismbrachydactyly syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defectskeletal anomalies syndrome Neurodevelopmental disorderhypotonia-stereotypic hand movementsimpaired language Neurodevelopmental disordermicrocephaly-arthrogryposis-structural brain anomalies Neurodevelopmental disorderspasticity-movement disorder-epileptic syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroendocrine carcinoma of pancreas Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm Neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of esophagus Neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of the colon Neuroendocrine neoplasm of the small intestine Neuroendocrine Tumor Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of small bowel Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroendocrine tumor with other location Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis schwannomatosis Neurofibromatosis type 1 Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia-retinitis pigmentosa syndrome Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurological channelopathy due to genetic calcium channel defect Neurological channelopathy due to genetic chloride channel defect Neurological channelopathy due to genetic GABA receptor defect Neurological channelopathy due to genetic glycine receptor defect Neurological channelopathy due to genetic potassium channel defect Neurological channelopathy due to genetic sodium channel defect Neurological muscular channelopathy due to genetic calcium channel defect Neurological muscular channelopathy due to genetic chloride channel defect Neurological muscular channelopathy due to genetic potassium channel defect Neurological muscular channelopathy due to genetic ryanodine receptor defect Neurological muscular channelopathy due to genetic sodium channel defect Neurolymphomatosis Neurometabolic disease Neurometabolic disorder due to serine deficiency Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 1 Neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis type 11 Neuronal ceroid lipofuscinosis type 12 Neuronal ceroid lipofuscinosis type 13 Neuronal ceroid lipofuscinosis type 14 Neuronal ceroid lipofuscinosis type 2 Neuronal ceroid lipofuscinosis type 3 Neuronal ceroid lipofuscinosis type 4 Neuronal ceroid lipofuscinosis type 5 Neuronal ceroid lipofuscinosis type 6 Neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis type 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuronal tumor Neurooculocardiogenitourinary syndrome Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neuroretinitis Neurosensory deafness with dilated cardiomyopathy Neurotrophic keratitis Neurovascular malformation Neutral lipid storage disease Neutral lipid storage disease type M Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with severe cardiovascular involvement Neutropenia-monocytopenia deafness syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevoid basal cell carcinoma syndrome Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn Nevus sebaceus syndrome New-onset refractory status epilepticus Nezelof syndrome NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome NFAT5 haploinsufficiency NFKB1-related immune dysregulation NFU1 deficiency NGLY1 deficiency NHEJ1 deficiency Nicolaides-Baraitser syndrome Nicolau syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nipah encephalitis Nipah virus disease NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK/T-cell lymphoma NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease NMDA receptor encephalitis Nodal marginal zone B-cell lymphoma Nodal T-cell lymphoma with TFH phenotype Nodal T-follicular helper cell lymphoma, follicular type Nodal TFH lymphoma, follicular type Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular urticaria pigmentosa Noma NOMID syndrome Non-24-hour sleep-wake syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-alcoholic Fatty Liver Disease Non-amyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency Non-deforming osteogenesis imperfecta Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-dystrophic myopathy Non-epithelial cancer of ovary Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-fibrotic hypersensitivity pneumonitis Non-fluent variant primary progressive aphasia Non-functioning pancreatic neuroendocrine tumor Non-functioning paraganglioma Non-functioning pituitary adenoma Non-functioning welldifferentiated pancreatic neuroendocrine neoplasm Non-genetic central precocious puberty in male Non-hereditary degenerative ataxia Non-hereditary retinoblastoma Non-HFE-related hemochromatosis Non-histaminic angioedema Non-Hodgkin lymphoma Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-immune hydrops fetalis Non-infectious anterior uveitis Non-inflammatory peeling skin syndrome type A Non-inflammatory vasculopathy Non-insulinoma pancreatogenous hypoglycemia syndrome Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Langerhans cell histiocytosis Non-malignant non-cirrhotic portal vein thrombosis Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-paraneoplastic sensory ganglionopathy Non-paraneoplastic sensory neuronopathy Non-phenylketonuric non-BH4deficiency hyperphenylalaninemia Non-pneumonic Legionnaires disease Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive epilepsy and-or ataxia with myoclonus as a major feature Non-recovering obstetric brachial plexus lesion Non-rhizomelic chondrodysplasia punctata Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-severe combined immunodeficiency Non-specific autoimmune cerebellar ataxia Non-specific early-onset epileptic encephalopathy Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-specific syndromic intellectual disability Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic agammaglobulinemia Non-syndromic amelia Non-syndromic anal stenosis Non-syndromic anorectal malformation Non-syndromic anterior synostotic plagiocephaly Non-syndromic biliary atresia Non-syndromic brain malformation Non-syndromic central nervous system malformation Non-syndromic cloacal malformation Non-syndromic congenital bronchial anomaly Non-syndromic congenital bronchial atresia Non-syndromic congenital phagocyte functional defect Non-syndromic congenital sodium diarrhea Non-syndromic constitutional thrombocytopenia Non-syndromic craniosynostosis Non-syndromic dentinogenesis imperfecta Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation Non-syndromic esophageal malformation Non-syndromic gastrointestinal malformation Non-syndromic genetic hearing loss (DFNA/DFNB/DFNX) Non-syndromic heritable thoracic aortic disease Non-syndromic hypogammaglobulinemia Non-syndromic intercalary limb defect Non-syndromic intestinal malformation Non-syndromic joint formation defect Non-syndromic lambdoid craniosynostosis Non-syndromic limb hypoplasia Non-syndromic limb overgrowth Non-syndromic limb reduction defect Non-syndromic longitudinal limb defect Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic multiple suture synostosis Non-syndromic polydactyly Non-syndromic pontocerebellar hypoplasia Non-syndromic postaxial polydactyly Non-syndromic posterior hypospadias Non-syndromic preaxial polydactyly Non-syndromic renal tract malformation Non-syndromic reticular dysgenesis Non-syndromic retinal nonattachment Non-syndromic sagittal craniosynostosis Non-syndromic single suture synostosis Non-syndromic syndactyly Non-syndromic terminal transverse limb defect Non-syndromic thrombocytopenia Non-syndromic unicoronal craniosynostosis Non-syndromic urogenital tract malformation Non-syndromic uterovaginal malformation Non-syndromic vestibular fistula Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Non-terminal myelocystocele Non-transfusion dependent betathalassemia Non-transplant-related bronchiolitis obliterans Non-tuberculous mycobacterial extrapulmonary disease Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonmosaic Legius syndrome Nonmosaic neurofibromatosis type 1 Nonmosaic neurofibromatosis type 2-related schwannomatosis Nonmosaic schwannomatosis Nonne-Milroy lymphedema Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Norman-Landing disease Normomorphic sialidosis Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma NR1H4 deficiency NR4A2-related neurodevelopmental syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleepwake cycle disturbance NSD2-related syndrome NTHL1-related adenomatous polyposis NTHL1-related polyposis Nuclear factor kappa B subunit 1related immune dysregulation Nude/severe combined immunodeficiency Null cell pituitary adenoma Null pituitary adenoma Null syndrome NUT midline carcinoma O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia OAV spectrum Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to prohormone convertase I deficiency Obesity due to proopiomelanocortin deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidism cardiac hypertrophy-developmental delay syndrome Oblique facial cleft Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obsessive-Compulsive Disorder (OCD) Obstructed hemivagina and ipsilateral renal anomaly Obstructive Uropathy Occipital atretic cephalocele unusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Occult spina bifida Ochoa syndrome Ocular albinism Ocular albinism Nettleship-Falls type Ocular albinism type 1 Ocular albinism with late-onset sensorineural hearing loss Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cicatricial pemphigoid Ocular cystinosis Ocular motor apraxia, Cogan type Ocular siderosis Ocular surface squamous neoplasia Ocular-scoliotic Ehlers-Danlos syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital dysplasia Oculo-digito-esophageal-duodenal syndrome Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculoauricular syndrome Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocutaneous Albinism Oculocutaneous albinism Amish type Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type 8 Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd type Oculodentodigital syndrome Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculogastrointestinal neurodevelopmental syndrome Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia Oculoosteocutaneous syndrome Oculootodental syndrome Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculoskeletodental syndrome Oculotrichoanal syndrome Oculotrichodysplasia Odonto-onycho dysplasia alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digitopalmar syndrome Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome OEIS complex Oesophageal atresia Oesophageal Diverticuli Oesophageal Obstruction Oesophagitis Ofuji disease Ogden syndrome Oguchi disease Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohtahara syndrome Okamoto syndrome Okihiro syndrome Okur-Chung neurodevelopmental syndrome Olfactory neuroblastoma Oligoastrocytoma Oligocone trichromacy Oligodendroglioma Oligodontia Oligomeganephronia Oligophrenin-1 syndrome Oligosaccharidosis Oliver-McFarlane syndrome Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome Omenn syndrome Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophy imperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalomesenteric cyst Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine-Hirschsprung syndrome Onycho-digito-mammary syndrome Onychocytic matricoma Onychomatricoma Onychoosteodysplasia Oophoritis Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD spectrum disorder Open iniencephaly Open spina bifida Open spinal dysraphism Open spinal dysraphism with a myelomeningocele Open spinal dysraphism with a posterior meningocele Open split-cord malformation Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotonia ataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz BBB/G syndrome Opitz C trigonocephaly syndrome Opitz-Kaveggia syndrome Oppenheim dystonia Oppenheim-Urbach disease Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxia simultanagnosia syndrome Optic atrophy plus syndrome (Behr syndrome) Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-deafness polyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic disc pit Optic nerve edema-splenomegaly syndrome Optic pathway glioma Oral dysesthesia Oral submucous fibrosis Oral-facial-digital syndrome Oral-facial-digital syndrome Edwards type Oral-facial-digital syndrome Gabrielli type Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with short stature and brachymesophalangy Orbital Apex Syndrome Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Orbitofacial cleft Organoid nevus syndrome Orgasm-induced epilepsy Ormond disease Ornithine aminotransferase deficiency Ornithine carrier deficiency Ornithine decarboxylase deficiency Ornithosis Oroacral syndrome Orocraniodigital syndrome Orodynia Orofacial clefting syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Oromandibular dystonia Oromandibular-limb anomalies syndrome Oromandibular-limb hypogenesis syndrome Oropharyngeal teratoma Orotidylic decarboxylase deficiency Orthostatic intolerance due to NET deficiency Osebold-Remondini syndrome Osgood-Schlatter disease Osseous Ewing sarcoma Osseous-oculo-dental dysplasia Ossification anomalies psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoarthritis Osteoblastoma Osteochondritis dissecans and short stature Osteochondromuscular dystrophy Osteochondrosis of genetic origin Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta (Brittle bone disease) Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglophonic dwarfism Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelofibrosis Osteonecrosis Osteonecrosis Osteonecrosis of genetic origin Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia Osteopenia-intellectual disability sparse hair syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteopoikilosis Osteopoikilosis-short stature intellectual disability syndrome Osteoporosis Osteoporosis of pregnancy Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoradionecrosis of the mandible Osteosarcoma Osteosarcoma-limb anomalies erythroid macrocytosis syndrome Osteosclerosis Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis premature ovarian failure syndrome Osteosclerotic bone dysplasia Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome Otitis Externa Otitis Media Otodental dysplasia Otofaciocervical syndrome Otofaciocervical syndrome type 2 Otofaciocervical syndrome with thymic hypoplasia Otofaciocervical syndrome without thymic hypoplasia Otomandibular dysplasia Otoonychoperoneal syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian dysgerminoma Ovarian epithelial cancer Ovarian fibroma Ovarian fibrothecoma Ovarian germ cell cancer Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant epithelial tumor Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Mullerian tumor Ovarian malignant non-epithelial tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarioleukodystrophy Overgrowth obesity syndrome Overgrowth or tall stature syndrome with skeletal involvement Overgrowth syndrome Overgrowth syndrome with 2q37 translocation Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Overlap syndromes of autoimmune liver diseases Overlapping connective tissue disease Owren disease OXCT1 deficiency Oxoglutaric aciduria Oxoprolinuria due to oxoprolinase deficiency OXPHOS disease OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease with no known mechanism Oxysterol 7-alpha-hydroxylase deficiency Pancreatic Cysts Pancreatic Duct Obstruction Pancreatic Hyperplasia Pancreatic Neuroendocrine Tumour Pancreatitis Pancreatitis - Bacterial Parkinsonism Patent Ductus Arteriosus PCT - Type I Sporadic PCT - Type II Familial PCT - Type III PCT - Type IV Hepatoerythropoietic Porphyria PCT - Type V Toxic Porphyria Pellagra Pelvic Inflammatory Disease Peptic Ulcer Disease Pericardial Constriction Pericardial Effusion Pericarditis Peripheral Vascular Disease Peritoneal Mesothelial Tumour Peritonitis Pernicious Anaemia Perthes Disease Pfeiffer Syndrome Phaeochromocytoma Pituitary Tumour Pleural Aspergillosis Pleural Mesothelial Tumour Pleurisy Pleuritis Pneumonia Pneumonia - Aspiration Pneumonia - Bacterial Pneumonia - Haemorrhagic Pneumonia - Tuberculous Pneumonitis Pneumothorax Polyarteritis Nodosa Polycystic Ovary Syndrome Polymicrogyria Polymyalgia Rheumatica Polymyositis Polyneuritis Portal Hypertension Pott's Disease of the Spine Prader-Willi Syndrome Pre-Eclampsia Pregnancy - Cytomegalovirus Infection Premature Delivery Primary Acquired Sideroblastic Anaemia Primary Biliary Cirrhosis Primary hyperlipoproteinemia type III (Broad-beta disease) Primary Hypothyroidism Primary Small Intestinal Lymphoma - PSIL Progressive external ophthalmoplegia with riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome) Prolactinoma Prostatitis Protein Losing Enteropathy Pseudo-Obstruction Pseudomembranous Candidiasis Pseudotumour Cerebri Psoriasis Psoriatic arthropathy Pulmonary Artery Agenesis Pulmonary Artery Stenosis Pulmonary Disease - Obstructive Pulmonary Disease - Restrictive Pulmonary Embolus(i) Pulmonary Fibrosis Pulmonary Hypertension Pulmonary Interstitial Disease Pulmonary Oedema - Acute Pulmonary Regurgitation Pulmonary Valve Stenosis Pulmonary Vascular Thrombosis Purpura Fulminans Pyelonephritis Pyoarthrosis Radiculitis Radiculopathy RAEB in Transformation (RAEBIT) Ramsay Hunt Syndrome Refractory Anaemia Refractory Anaemia - Excess Blasts (RAEB) Refractory Anaemia - Ring Sideroblasts (RARS) Reiter's Syndrome Renal Abscess(es) Renal Agenesis Renal Artery Stenosis Renal Carcinoma Renal Cysts Renal Disease Renal Disease Renal Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Rickets Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Scapuloperoneal muscular dystrophy Scapuloperoneal myopathy, neurogenic type Scapuloperoneal spinal muscular atrophy Scapulothoracic dysostosis SCARF syndrome Scarring alopecia-short stature-craniofacial dysmorphism syndrome Schilder disease Schimke immuno-osseous dysplasia Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel phocomelia syndrome Schinzel syndrome Schinzel-Giedion syndrome Schizophrenia Schizophrenia Schmidt syndrome Schneckenbecken dysplasia Schnitzler syndrome Schoenlein-Henoch purpura Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Scleritis Scleroderma Scleroderma, diffuse cutaneous Scleroderma, limited cutaneous Scleromyxedema Sclerosing Cholangitis Sclerosing cholangitis, primary Sclerosing mesenteritis Sclerosing osteomyelitis Sclerosing peritonitis Sclerosing skin disorders, inherited Sclerosteosis Sclerotherapy-related complications Sclerotic fibroma SCN1A-related epileptic encephalopathy SCN2A-related epileptic encephalopathy SCN8A-related epileptic encephalopathy SCN9A-related congenital insensitivity to pain Scofield syndrome SCOT deficiency Scrotal calcinosis Scrotal elephantiasis Scrotal lymphedema Scrotal melanoma Scrotal squamous cell carcinoma Sea-blue histiocyte syndrome Sebaceous carcinoma Sebaceous hyperplasia, familial Sebaceous nevus of Jadassohn syndrome Seborrheic dermatitis Seckel syndrome Secondary Acquired Sideroblastic Anaemia Secondary hemophagocytic lymphohistiocytosis Secondary hyperoxaluria Secondary lymphedema Secondary myelofibrosis Secondary pulmonary hypertension Secondary sclerosing cholangitis Secondary Sjogren syndrome Secondary syphilis Secretory carcinoma of the breast Segawa syndrome Segmental neurofibromatosis Seip-Berardinelli congenital lipodystrophy Seizures, benign familial infantile Seizures, benign familial neonatal Seizures, benign familial neonatal-infantile Seizures, familial focal with variable foci Seizures, genetic epilepsy with febrile seizures plus Seizures, neonatal severe Seizures, progressive myoclonic epilepsy Seizures, reflex epilepsy Seizures, symptomatic focal epilepsy Selenoprotein deficiency disorder Selenoprotein N-related myopathy Self-healing collodion baby Self-healing squamous epithelioma SEMDCJL1-related skeletal dysplasia Semicircular canal dehiscence syndrome Seminoma Senear-Usher syndrome Sensory ataxic neuropathy Sensory neuropathy, hereditary Sensory processing disorder Septic arthritis Septic shock Septic Shock Septicaemia Septicaemia - Gram negative Septicemia Septo-optic dysplasia Septo-optic dysplasia spectrum Septo-optic pituitary dysplasia Serine biosynthesis defect Serine deficiency disorders Serotonin syndrome Serous cystadenoma of pancreas Serpiginous choroiditis Sertoli cell tumor Sertoli-Leydig cell tumor Serum amyloid A amyloidosis SeSAME syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Severe Combined Degeneration Severe combined immunodeficiency, T-B+ phenotype Severe combined immunodeficiency, T-B+NK+ phenotype Severe combined immunodeficiency, T-B+NK- phenotype Severe combined immunodeficiency, T-B- phenotype Severe combined immunodeficiency, T-B-NK+ phenotype Severe combined immunodeficiency, T-B-NK- phenotype Severe congenital neutropenia Severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to HAX1 deficiency Severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to VPS45 deficiency Severe cutaneous adverse drug reaction Severe developmental delay-epilepsy-short stature-deep set eyes syndrome Severe early-childhood-onset retinal dystrophy Severe fever with thrombocytopenia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome Severe megalencephaly-cortical malformation-capillary malformation syndrome Severe myoclonic epilepsy in infancy Severe neonatal episodic laryngospasm Severe neonatal-onset encephalopathy with microcephaly Severe persistent hyperinsulinemic hypoglycemia of infancy Severe skeletal dysplasia-intellectual disability-progeroid features syndrome Severe thrombocytopenia with Philadelphia chromosome-positive chronic myeloid leukemia Severe X-linked intellectual disability, Gustavson type Sezary Syndrome Shapiro syndrome Sharp syndrome Shashi-Pena syndrome Sheehan syndrome Sheldon-Hall syndrome Shiga toxin-associated hemolytic uremic syndrome Shigellosis Shin splints syndrome Shinzel-Giedion midface retraction syndrome Short QT syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short stature due to growth hormone deficiency Short stature with microcephaly and distinctive facies Short stature with pigmentary skin changes and skeletal anomalies Short stature with precocious puberty and dysmorphic features Short stature with speech delay and facial dysmorphism Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-facial dysmorphism-skeletal anomalies syndrome Short stature-hyperextensible joints-hernia-ocular depression-Rieger anomaly syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic nerve atrophy-Pelger-Huet anomaly syndrome Short stature-renal disease syndrome Short stature-skeletal anomalies-intellectual disability syndrome Short stature-slow hair growth-intellectual disability syndrome Short stature-valvular heart disease-characteristic facies syndrome Shoulder girdle myopathy Shprintzen syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg syndrome Sialadenitis, chronic recurrent Sialidosis Sialidosis type 1 Sialidosis type 2 Sicca syndrome Sickle cell disease with crisis Sickle cell-beta thalassemia Sideroblastic anemia Sideroblastic anemia, X-linked Siderosis, pulmonary SIDS Siegel syndrome Siemens syndrome Sifrim-Hitz-Weiss syndrome SIL1-related Marinesco-Sjögren syndrome Silver-Russell syndrome Simpson - Golabi - Behmel Syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinus histiocytosis with massive lymphadenopathy Sinus node dysfunction Sinus pericranii Sirenomelia SIRS Sjogren's Syndrome Sjögren syndrome with extraglandular involvement Sjögren syndrome with glandular involvement Sjögren syndrome, primary Sjögren syndrome, secondary Sjögren-Larsson syndrome Skeletal dysplasia with brachydactyly and joint laxity Skeletal dysplasia with microcephaly and intellectual disability Skeletal dysplasia-intellectual disability syndrome Skeletal muscle calcium channelopathy Skeletal muscle channelopathy Skeletal muscle chloride channelopathy Skeletal muscle potassium channelopathy Skeletal muscle ryanodine receptor channelopathy Skeletal muscle sodium channelopathy Skin - Squamous Cell Carcinoma Skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin peeling syndrome Skin peeling syndrome, acral type Skin peeling syndrome, generalized inflammatory type Skin peeling syndrome, generalized non-inflammatory type Skin peeling syndrome, localized type Skull base chordoma Skull dysplasia, familial Sleep Deprivation Slipped capital femoral epiphysis Slow channel congenital myasthenic syndrome Slow transit constipation SMARD1 Smith syndrome Smith-Magenis syndrome SMN1-related spinal muscular atrophy Smouldering multiple myeloma Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOFT syndrome Sotos syndrome type 2 Sotos syndrome type 3 Sotos-like syndrome Sowden syndrome Sparing syndrome Spastic ataxia Spastic paraplegia type 1 Spastic paraplegia type 10 Spastic paraplegia type 11 Spastic paraplegia type 12 Spastic paraplegia type 13 Spastic paraplegia type 14 Spastic paraplegia type 15 Spastic paraplegia type 16 Spastic paraplegia type 17 Spastic paraplegia type 18 Spastic paraplegia type 19 Spastic paraplegia type 2 Spastic paraplegia type 20 Spastic paraplegia type 21 Spastic paraplegia type 22 Spastic paraplegia type 23 Spastic paraplegia type 24 Spastic paraplegia type 25 Spastic paraplegia type 26 Spastic paraplegia type 27 Spastic paraplegia type 28 Spastic paraplegia type 29 Spastic paraplegia type 3 Spastic paraplegia type 30 Spastic paraplegia type 31 Spastic paraplegia type 32 Spastic paraplegia type 33 Spastic paraplegia type 34 Spastic paraplegia type 35 Spastic paraplegia type 36 Spastic paraplegia type 37 Spastic paraplegia type 38 Spastic paraplegia type 39 Spastic paraplegia type 4 Spastic paraplegia type 40 Spastic paraplegia type 41 Spastic paraplegia type 42 Spastic paraplegia type 43 Spastic paraplegia type 44 Spastic paraplegia type 45 Spastic paraplegia type 46 Spastic paraplegia type 47 Spastic paraplegia type 48 Spastic paraplegia type 49 Spastic paraplegia type 5 Spastic paraplegia type 50 Spastic paraplegia type 51 Spastic paraplegia type 52 Spastic paraplegia type 53 Spastic paraplegia type 54 Spastic paraplegia type 55 Spastic paraplegia type 56 Spastic paraplegia type 57 Spastic paraplegia type 58 Spastic paraplegia type 59 Spastic paraplegia type 6 Spastic paraplegia type 60 Spastic paraplegia type 61 Spastic paraplegia type 62 Spastic paraplegia type 63 Spastic paraplegia type 64 Spastic paraplegia type 65 Spastic paraplegia type 66 Spastic paraplegia type 67 Spastic paraplegia type 68 Spastic paraplegia type 69 Spastic paraplegia type 7 Spastic paraplegia type 70 Spastic paraplegia type 71 Spastic paraplegia type 72 Spastic paraplegia type 73 Spastic paraplegia type 74 Spastic paraplegia type 75 Spastic paraplegia type 76 Spastic paraplegia type 77 Spastic paraplegia type 78 Spastic paraplegia type 79 Spastic paraplegia type 8 Spastic paraplegia type 80 Spastic paraplegia type 81 Spastic paraplegia type 82 Spastic paraplegia type 83 Spastic paraplegia type 84 Spastic paraplegia type 85 Spastic paraplegia type 86 Spastic paraplegia type 87 Spastic paraplegia type 88 Spastic paraplegia type 89 Spastic paraplegia type 9 Spastic tetraplegia Spasticity with white matter abnormalities Spasticity, hereditary Spasticity-ataxia syndrome Spasticity-intellectual disability-seizures syndrome Spasticity-paraplegia-neuropathy syndrome Speckled lentiginous nevus syndrome Speech delay-intellectual disability syndrome Speech sound disorder Spherocytosis, hereditary Spherophakia Sphingolipidosis Sphingomyelin lipidosis Sphingomyelinase deficiency Spina bifida Spina bifida occulta Spinal and bulbar muscular atrophy Spinal arteriovenous malformation Spinal cord astrocytoma Spinal cord compression Spinal Cord Compression Spinal cord ependymoma Spinal cord injury Spinal cord ischemia Spinal cord malformation Spinal cord tumor Spinal dysraphism Spinal Epidural Abscess Spinal epidural lipomatosis Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, congenital with arthrogryposis Spinal muscular atrophy, distal Spinal muscular atrophy, distal hereditary motor neuropathy type Spinal muscular atrophy, juvenile Spinal muscular atrophy, non-5q type Spinal muscular atrophy, type 0 Spinal muscular atrophy, type 1 Spinal muscular atrophy, type 2 Spinal muscular atrophy, type 3 Spinal muscular atrophy, type 4 Spinal muscular atrophy, X-linked Spinal neurofibromatosis Spinal osteochondroma Spinal osteosarcoma Spinal paraganglioma Spinal schwannoma Spinal stenosis Spinal subdural hematoma Spinal subependymoma Spinal teratoma Spinal tuberculosis Spinal vascular malformation Spinal vascular tumor Spinalis muscle myopathy Spindle cell carcinoma Spindle cell hemangioma Spindle cell lipoma Spindle cell melanoma Spindle cell oncocytoma of the pituitary gland Spindle cell sarcoma Spine Abscess Spinocerebellar Ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 24 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27A Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 33 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 39 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 44 Spinocerebellar ataxia type 45 Spinocerebellar ataxia type 46 Spinocerebellar ataxia type 47 Spinocerebellar ataxia type 48 Spinocerebellar ataxia type 49 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 50 Spinocerebellar ataxia type 51 Spinocerebellar ataxia type 52 Spinocerebellar ataxia type 53 Spinocerebellar ataxia type 54 Spinocerebellar ataxia type 55 Spinocerebellar ataxia type 56 Spinocerebellar ataxia type 57 Spinocerebellar ataxia type 58 Spinocerebellar ataxia type 59 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 60 Spinocerebellar ataxia type 61 Spinocerebellar ataxia type 62 Spinocerebellar ataxia type 63 Spinocerebellar ataxia type 64 Spinocerebellar ataxia type 65 Spinocerebellar ataxia type 66 Spinocerebellar ataxia type 67 Spinocerebellar ataxia type 68 Spinocerebellar ataxia type 69 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 70 Spinocerebellar ataxia type 71 Spinocerebellar ataxia type 72 Spinocerebellar ataxia type 73 Spinocerebellar ataxia type 74 Spinocerebellar ataxia type 75 Spinocerebellar ataxia type 76 Spinocerebellar ataxia type 77 Spinocerebellar ataxia type 78 Spinocerebellar ataxia type 79 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 80 Spinocerebellar ataxia type 81 Spinocerebellar ataxia type 82 Spinocerebellar ataxia type 83 Spinocerebellar ataxia type 84 Spinocerebellar ataxia type 85 Spinocerebellar ataxia type 86 Spinocerebellar ataxia type 87 Spinocerebellar ataxia type 88 Spinocerebellar ataxia type 89 Spinocerebellar ataxia type 9 Spinocerebellar ataxia type 90 Spinocerebellar ataxia type 91 Spinocerebellar ataxia type 92 Spinocerebellar ataxia type 93 Spinocerebellar ataxia type 94 Spinocerebellar ataxia type 95 Spinocerebellar ataxia type 96 Spinocerebellar ataxia type 97 Spinocerebellar degeneration with peripheral neuropathy Spinocerebellar degeneration, autosomal dominant Spinocerebellar degeneration, autosomal recessive Spinocerebellar syndrome with epilepsy Spinocerebellar syndrome with pyramidal signs Spinocerebellar syndrome with retinal degeneration Spinocerebellar syndrome with sensorineural hearing loss Spinocerebellar syndrome with spasticity Spitz nevus Splenic abscess Splenic artery aneurysm Splenic cyst Splenic marginal zone lymphoma Splenic Rupture Splenic sequestration crisis Splenic vein thrombosis Splenomegaly with cytopenia syndrome Splenomegaly, hereditary Split hand/foot malformation Split hand/foot malformation type 1 Split hand/foot malformation type 2 Split hand/foot malformation type 3 Split hand/foot malformation type 4 Split hand/foot malformation type 5 Split hand/foot malformation type 6 Split hand/foot malformation type 7 Split hand/foot malformation type 8 Split hand/foot malformation with long bone deficiency Split hand/foot malformation with tibial aplasia Split notochord syndrome Splitting of the spinal cord Spondyloarthritis Spondyloarthritis associated with inflammatory bowel disease Spondyloarthritis, undifferentiated Spondyloarthropathy Spondyloarthropathy, axial Spondyloarthropathy, peripheral Spondylocostal dysostosis Spondylocostal dysostosis type 1 Spondylocostal dysostosis type 10 Spondylocostal dysostosis type 11 Spondylocostal dysostosis type 12 Spondylocostal dysostosis type 13 Spondylocostal dysostosis type 14 Spondylocostal dysostosis type 15 Spondylocostal dysostosis type 16 Spondylocostal dysostosis type 17 Spondylocostal dysostosis type 18 Spondylocostal dysostosis type 19 Spondylocostal dysostosis type 2 Spondylocostal dysostosis type 20 Spondylocostal dysostosis type 3 Spondylocostal dysostosis type 4 Spondylocostal dysostosis type 5 Spondylocostal dysostosis type 6 Spondylocostal dysostosis type 7 Spondylocostal dysostosis type 8 Spondylocostal dysostosis type 9 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, tarda X-linked Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia with cone-rod dystrophy Spondylometaphyseal dysplasia with dentinogenesis imperfecta Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, axial type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, filamin A type Spondylometaphyseal dysplasia, handigodu type Spondylometaphyseal dysplasia, Japanese type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, plasmalemma vesicle-associated protein type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, short limb type Spondylometaphyseal dysplasia, short limb-abnormal calcification type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, with corneal dystrophy Spondylometaphyseal dysplasia, with dentinogenesis imperfecta Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-corneal dystrophy syndrome Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondylothoracic dysostosis Spondylothoracic dysostosis, autosomal recessive Spongiform leukoencephalopathy with chronic euphoria Spontaneous Abortion Spontaneous coronary artery dissection Spontaneous intracranial hypotension Spontaneous periodic hypothermia Spontaneous pneumothorax Spontaneous splenic rupture Spotted fever rickettsiosis Sprengel deformity Sprinz-Nelson syndrome SPTLC1-related hereditary sensory and autonomic neuropathy SQUAMOS syndrome Squamous cell carcinoma of the conjunctiva Squamous cell carcinoma of the eyelid Squamous cell carcinoma of the lip Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the skin Squamous odontogenic tumor SRD5A3-congenital disorder of glycosylation SRSF2-related myelodysplastic syndrome SSADH deficiency SSPE Staphylococcal scalded skin syndrome Stargardt disease Stargardt disease type 1 Stargardt disease type 3 Starvation ketoacidosis Static encephalopathy Steatocystoma multiplex Steele-Richardson-Olszewski syndrome Steinert disease Stenosis of aqueduct of Sylvius Stenotrophomonas maltophilia infection Stensen duct obstruction Sterility - Female Sterility - Male Steroid-resistant nephrotic syndrome Steroid-sensitive nephrotic syndrome Stevens Johnson Syndrome Stevens-Johnson syndrome Stewart-Treves syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stiff skin syndrome Still disease, adult-onset Stomatin-deficient cryohydrocytosis Stomatocytosis, dehydrated hereditary Stomatocytosis, overhydrated hereditary Stormorken syndrome Stromme syndrome Sturge-Weber syndrome Stuve-Wiedemann syndrome Subacute Combined Degeneration of Cord Subacute sclerosing panencephalitis Subacute Sclerosing Panencephalitis - SSPE Subaortic stenosis, discrete Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical laminar heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal heterotopia Subependymal nodular heterotopia Subependymal nodules Subependymoma Subungual exostosis Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital Sudanophilic leukodystrophy Sudden infant death syndrome Sudden unexplained death in epilepsy Sudden unexplained nocturnal death syndrome Sulfite oxidase deficiency Sulfite Oxidase Deficiency Sulfite oxidase deficiency, isolated Sulfoglucuronosyl paragloboside ceramide lipidosis Sulfur amino acid metabolism disorder Superior mesenteric artery syndrome Superior Vena Caval Obstruction Supranuclear gaze palsy Supratentorial primitive neuroectodermal tumor Surfactant metabolism dysfunction, pulmonary Surfactant protein B deficiency Surfactant protein C deficiency Surfactant protein deficiency, congenital Susac syndrome Sweet syndrome Swyer syndrome Swyer-James-MacLeod syndrome Sydenham chorea Sydenham's Chorea Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal Symphalangism, proximal Synapsin-related neurodevelopmental disorder Syncope, catecholaminergic polymorphic ventricular tachycardia-related Syndromic craniosynostosis Syndromic deafness Syndromic intellectual disability Syndromic microphthalmia Syndromic obesity Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic outer canthal malposition Syndromic palpebral coloboma Syndromic recessive X-linked ichthyosis Syndromic renal or urinary tract malformation Syndromic respiratory or mediastinal malformation Syndromic retinal dystrophy Syndromic rod-cone dystrophy Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic telecanthus Syndromic urogenital tract malformation Syndromic uterovaginal malformation Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Syndromic vitreoretinopathy Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related arthrogryposis multiplex congenita SYNGAP1-related developmental and epileptic encephalopathy Syngnathia-cleft palate syndrome Syngnathia-multiple anomalies syndrome Synovial chondromatosis Synovial sarcoma Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synspondylism Syntelencephaly Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic autoimmune disease Systemic autoinflammatory disease due to NEMO exon 5 deletion Systemic candidiasis Systemic capillary leak syndrome Systemic disease with glomerulopathy as a major feature Systemic disease with skin involvement Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic karyomegaly Systemic Lupus Erythematosus Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic polyarteritis nodosa Systemic primary carnitine deficiency Systemic sarcoidosis (Boeck) Systemic Sclerosis Systemic sclerosis Systemic sclerosis sine scleroderma Systemic vasculitis associated with glomerulopathy T-cell acute lymphoblastic leukemia T-cell large granular lymphocyte leukemia T-cell non-Hodgkin lymphoma T-cell prolymphocytic leukemia Takotsubo cardiomyopathy Takotsubo cardiomyopathy (stress-induced cardiomyopathy) Talaromycosis (Talaromyces marneffei infection) TANGO2-related metabolic encephalopathy-arrhythmia syndrome TAR syndrome (thrombocytopenia-absent radius syndrome) TARP syndrome Tarui disease (glycogen storage disease type VII) Tatton-Brown-Rahman overgrowth syndrome Taussig-Bing syndrome TBCD TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome TCA cycle disorder TCF12-related syndromic craniosynostosis TCR-alpha-beta-positive T-cell deficiency TDO syndrome Teebi hypertelorism syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric fluid collections-intrapulmonary shunting syndrome Telangiectatic capillary malformation Telecanthus-hypertelorism-strabismus-pes cavus syndrome Telethonin-related limb-girdle muscular dystrophy R7 Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 13q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 5q Telomeric deletion 9p Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 1p36 Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric monosomy 3p Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temple-Baraitser syndrome Temporal arteritis (giant cell arteritis) Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal extramedullary conus spinal cord lipoma Terminal myelocystocele Terminal osseous dysplasia-pigmentary defects syndrome Terrien marginal degeneration Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessier number 7 facial cleft Testicular agenesis Testicular Dysgenesis Testicular germ cell tumor Testicular regression syndrome Testicular seminoma Testicular sex cord-stromal tumor TET3-related Beck-Fahrner syndrome Tetra X Tetraamelia-multiple malformations syndrome Tetragametic chimerism syndrome Tetrahydrobiopterin-responsive phenylketonuria Tetrahydrobiopterin-unresponsive phenylketonuria Tetramelic monodactyly Tetrasomy 11q24.1 Tetrasomy 15q26 Tetrasomy 18p syndrome Tetrasomy 21 syndrome Tetrasomy 5p syndrome Tetrasomy 9p syndrome Tetrasomy X syndrome Teunissen-Cremers syndrome TFE3-related neurodevelopmental disorder TFR2-related hemochromatosis TFRC-related combined immunodeficiency Thakker-Donnai syndrome Thalassaemia Intermedia Thalassaemia Major Thalassaemia Trait Thalidomide embryopathy Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia-cloverleaf skull syndrome Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder Theca steroid-producing cell tumor of ovary Theodore superior limbic keratoconjunctivitis Therapy-related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thickened earlobes-conductive hearing loss syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bones-dysmorphism syndrome Thinking epilepsy Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic malformation Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-fever renal insufficiency-organomegaly syndrome Thromboembolism Thrombomodulin-related bleeding disorder Thrombotic microangiopathy Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Thumb deformity-alopecia pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Thurston syndrome Thygeson superficial punctate keratitis Thymic carcinoma Thymic epithelial tumor Thymic neuroendocrine tumor Thymic Neuroendocrine Tumour Thymoma hypogammaglobulinemia syndrome Thyrocerebrorenal syndrome Thyroid Carcinoma Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid-renal-digital anomalies Thyroiditis Thyrotoxic periodic paralysis Thyrotoxicosis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial muscular dystrophy Tibiofibular diaphyseal toxopachyosteosis Tick-borne encephalitis Tietz syndrome Timothy syndrome Timothy syndrome type 1 Timothy syndrome type 2 TINU syndrome Titin-related limb-girdle muscular dystrophy R10 TJP2 deficit TKT deficiency TLK2-related neurodevelopmental disorder TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome TM2D3-related neurodevelopmental disorder TMEM147-related neurodevelopmental disorder TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Torpedo maculopathy Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tortuosity of retinal arteries Total color blindness Total early-onset cataract Touraine-Solente-Gole syndrome Townes syndrome Toxic dermatosis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic or drug-related embryofetopathy Toxic pustuloderma Toxin-mediated infectious botulism Toxocariasis Toxoplasma embryofetopathy TPHA TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay Traboulsi syndrome Tracheal agenesis Tracheal anomaly Tracheal atresia Tracheal Obstruction Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica TRAF7-associated heart defect-digital anomalies-facial dysmorphism syndrome Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient antenatal Bartter syndrome Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal TSH receptor-blocking antibodies Transient congenital hypothyroidism due to neonatal hyperthyrotropinemia Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient Ischaemic Attacks Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient predisposition to invasive pyogenic bacterial infection Transient pseudohypoaldosteronism Transient reactive papulotranslucent acrokeratoderma Transient tyrosinemia of the newborn Transition renal cell carcinoma Transitional atrioventricular canal defect Transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract Transitional PMD Transketolase deficiency Translocation renal cell carcinoma Transplacentally acquired neonatal autoimmune disease Transplant-related bronchiolitis obliterans Transposition of the great arteries Transposition of the great arteries and conotruncal heart defects Transverse facial cleft Transverse Myelitis Transverse vaginal septum TRAP sequence TRAPPC11-related limb-girdle muscular dystrophy R18 Traumatic avascular necrosis Traumatic AVN Traumatic myiasis TRDN-related isolated congenital Long QT syndrome Treacher-Collins syndrome Trehalase deficiency Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triatrial heart Trichinellosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichofolliculoma Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tricuspid Regurgitation Trigeminal autonomic cephalalgia Trigeminal neuralgia Trigeminal trophic syndrome Triglyceride deposit cardiomyovasculopathy Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Trilineage bone marrow failure-developmental delay syndrome TRIM22-related IBD TRIM22-related inflammatory bowel disease TRIM32-related limb-girdle muscular dystrophy R8 Trimethylaminuria Triophthalmia Triopia Triose phosphate-isomerase deficiency TRIP13-related Wilms tumor predisposition syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triple A syndrome Triple H syndrome Triple X Syndrome Triplication 15q25-qter Triplication 15q26 Triplo-X syndrome Triploidy syndrome Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 10 mosaicism Trisomy 10p syndrome Trisomy 12 mosaicism Trisomy 12p syndrome Trisomy 13 syndrome Trisomy 14 mosaicism Trisomy 15 mosaicism Trisomy 16 mosaicism Trisomy 17 mosaicism Trisomy 17p syndrome Trisomy 18 syndrome Trisomy 18p syndrome Trisomy 1q syndrome Trisomy 2 mosaicism Trisomy 20 mosaicism Trisomy 20p syndrome Trisomy 21 Trisomy 22 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism Trisomy 4p syndrome Trisomy 5 mosaicism Trisomy 5p syndrome Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 8p syndrome Trisomy 8q syndrome Trisomy 9 mosaicism Trisomy 9p syndrome Trisomy X syndrome Tritan colour blindness Tritanopia Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRPV4-related bone disorder True congenital pancreatic cyst True congenital shoulder dislocation True microcephaly True myelomeningocele True unicornuate uterus Truncus arteriosus Tsao-Ellingson syndrome TSC2/PKD1 contiguous gene syndrome TSH-secreting pituitary adenoma TSHZ3-related congenital anomalies of kidney-urinary tract syndrome Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever Tubal cancer Tuberculosis Tuberculosis of respiratory system Tuberous Sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tufted angioma Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor of cranial and spinal nerves Tumor of testis and paratestis Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tunnel subaortic stenosis Turban tumor syndrome Turner Syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turnpenny-Fry syndrome Twin anemia-polycythemia sequence Twin-reversed arterial perfusion sequence Twin-to-twin transfusion syndrome Tylosis with oesophageal cancer Tylosis-oesophageal carcinoma syndrome Type 1 galactosemia Type 1 interferonopathy Type 1 syndactyly-microcephaly-intellectual disability syndrome Type 2 galactosemia Type 3 galactosemia Type 4 galactosemia Type I OI Type II OI Type III OI Type IV OI Typhoidal salmonellosis Typical hemolytic uremic syndrome Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Ulcerative Colitis Undifferentiated Pleomorphic Sarcoma Unifocal Langerhans Cell Histiocytosis Uniparental Disomy Univentricular Heart Universal Melanosis Unroofed Coronary Sinus Unspecified Mitochondrial Disorder Upington Disease Upper Respiratory Tract Infections Upper Tract Urothelial Carcinoma Urachal Carcinoma Urachal Tumour Urbach-Wiethe Disease Urban-Rifkin-Davis Syndrome Urban-Rogers-Meyer Syndrome Urban-Schosser-Spohn Syndrome Ureter Carcinoma Uridine 5'-monophosphate hydrolase deficiency Uridine Monophosphate Synthetase Deficiency Urinary Tract Infection s Urioste Syndrome Urocanic Aciduria Urofacial Syndrome Urogenital Tuberculosis Urological Carcinoma Urothelial Carcinoma Urrets-Zavalia Syndrome Uterine Carcinosarcoma Uterine Malignant Mixed Mullerian Tumour UV-sensitive Syndrome Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveomeningitic Syndrome Vaccine-induced immune thrombotic thrombocytopenia VACTERL association VACTERL with hydrocephalus Vacuolar aggregate myopathy Vacuolar sorting protein 45 deficiency Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell tumor Valine metabolic defect Valproic acid embryopathy Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome Vanishing bone disease Vanishing testis syndrome Váradi syndrome Variable age-onset epilepsy syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant Creutzfeldt-Jakob disease Variant of Guillain-Barré syndrome Vascular Ehlers-Danlos polymicrogyria syndrome Vascular Ehlers-Danlos syndrome Vasculitis-autoinflammation immunodeficiency-hematologic defects syndrome Vasoproliferative tumor of the retina Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VCAN-related vitreoretinopathy Vegetant intravascular hemangioendothelioma Vegetative pyoderma gangrenosum VEGFC-related congenital primary lymphedema Vein of Galen arteriovenous malformation Velo-facial-skeletal syndrome Venezuelan hemorrhagic fever Venolymphatic malformation Venous malformation of the spleen Venous malformations with glomus cells Ventilator-induced diaphragmatic dysfunction Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Ventricular septal defect with aortic insufficiency Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verrucous venous malformation Very early-onset schizophrenia Vesicourachal diverticulum VEXAS syndrome Vibratory angioedema Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome Viral hemorrhagic fever Viral Infections Viral myositis Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral arteriovenous malformation Visceral calciphylaxis Visceral fibromuscular dysplasia Visceral heterotaxy Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visual snow syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Vitamin B6-dependent seizures Vitamin D-dependent rickets type I Vitamin D-dependent rickets type II Vitelliform macular dystrophy (Best vitelliform macular dystrophy) Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo Vitreoretinopathy Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease Volcke-Soekarman syndrome Von Meyenburg complexes disease Von Voss-Cherstvoy syndrome VPS11-related autosomal recessive hypomyelinating leukodystrophy VPS45 deficiency Vulto-van Silfout-de Vries syndrome Vulvar adenocarcinoma Vulvar basal cell carcinoma Vulvar carcinoma Vulvar intraepithelial neoplasia Vulvar squamous cell carcinoma Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease Västerbotten dystrophy Weill - Marchesani Syndrome West Syndrome ( Infantile Spasms ) Wilms Tumor Wilson's Disease Wolff-Parkinson-White Syndrome X Chromosome Number Anomaly Syndrome X Chromosome Number Anomaly with Female Phenotype Syndrome X Chromosome Number Anomaly with Male Phenotype Syndrome X-linked acqueductal stenosis X-linked Acrogigantism X-linked Adrenal Hypoplasia Congenita X-linked agammaglobulinemia (Bruton) X-linked AHC X-linked Alpha-thalassemia Intellectual Disability Syndrome X-linked Alport Syndrome X-linked Alport Syndrome-diffuse Leiomyomatosis X-linked Angelman-like Syndrome X-linked aqueductal stenosis X-linked aqueductal stenosis with hydrocephalus X-linked Ataxia-Deafness Syndrome X-linked ataxia-dementia syndrome X-linked ataxia-hearing loss syndrome X-linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 X-linked Autoinflammatory and Immunodeficiency Disease Associated with ELF4 X-linked Branchial Arch Syndrome X-linked bulbospinal muscular atrophy X-linked Calvarial Hyperostosis X-linked Cardioskeletal Myopathy and Neutropenia X-linked Central Congenital Hypothyroidism with Late-onset Macroorchidism X-linked Centronuclear Myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral degeneration syndrome X-linked cerebral-cerebellar degeneration syndrome X-linked Cerebral-Cerebellar-Coloboma Syndrome X-linked Charcot-Marie-Tooth Disease X-linked chondrodysplasia punctata type 2 X-linked Cleft Palate and Ankyloglossia X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital anemia neutropenia syndrome X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked Congenital Generalized Hypertrichosis X-linked corneal dermoid X-linked Creatine Transporter Deficiency X-linked Cutaneous Amyloidosis X-linked deafness syndrome X-linked deafness-intellectual disability syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal hereditary motor neuropathy type 3 X-linked distal myopathy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria X-linked dystonia syndrome X-linked Dystonia-Parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss Muscular Dystrophy X-linked Endothelial Corneal Dystrophy X-linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome X-linked Erythropoietic Protoporphyria X-linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome X-linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked Hearing Loss-Intellectual Disability Syndrome X-linked Hereditary Motor and Sensory Neuropathy X-linked hereditary neuropathy X-linked hereditary sensory and autonomic neuropathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked Hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked Hyper-IgM Syndrome X-linked Hypohidrotic Ectodermal Dysplasia X-linked Immune Dysregulation with Inflammatory Bowel Disease due to ELF4 Deficiency X-linked immunodeficiency syndrome X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia X-linked Immunoneurologic Disorder X-linked Incomplete Achromatopsia X-linked intellectual disability cardiomegaly-congestive heart failure syndrome X-linked intellectual disability cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability cubitus valgus-dysmorphism syndrome X-linked Intellectual Disability due to GRIA3 Mutations X-linked Intellectual Disability due to PQBP1 Mutations X-linked intellectual disability dysmorphism-cerebral atrophy syndrome X-linked intellectual disability epilepsy syndrome X-linked intellectual disability global developmental delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability gynecomastia-obesity syndrome X-linked intellectual disability hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability hypotonia-movement disorder syndrome X-linked intellectual disability limb spasticity-retinal dystrophy-arginine vasopressin deficiency X-linked intellectual disability microcephaly-cortical malformation-thin habitus syndrome X-linked intellectual disability microcephaly-testicular failure syndrome X-linked intellectual disability progressive joint contractures-dysmorphism syndrome X-linked intellectual disability psychosis-macroorchidism syndrome X-linked intellectual disability seizures syndrome X-linked intellectual disability syndrome X-linked Intellectual Disability Syndrome, Lubs Type X-linked Intellectual Disability with Isolated Growth Hormone Deficiency X-linked Intellectual Disability with Marfanoid Habitus X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome X-linked intellectual disability-dystonia-dysarthria syndrome X-linked intellectual disability-hypotonia syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked isolated growth hormone deficiency X-linked Juvenile Retinoschisis X-linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-linked Lethal Multiple Pterygium Syndrome X-linked lissencephaly type 1 X-linked Lissencephaly with Abnormal Genitalia X-linked Mandibulofacial Dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod Syndrome X-linked Mendelian Susceptibility to Mycobacterial Diseases X-linked microcephaly syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked Moesin-associated Immunodeficiency X-linked motor neuron disease X-linked Myopathy with Excessive Autophagy X-linked Myopathy with Postural Muscle Atrophy X-linked Myotubular Myopathy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked Neurodegenerative Syndrome, Bertini Type X-linked Neurodegenerative Syndrome, Hamel Type X-linked neurodevelopmental disorder X-linked Non Progressive Cerebellar Ataxia X-linked Non-syndromic Hearing Loss X-linked Non-syndromic Intellectual Disability X-linked Ohdo Syndrome X-linked Osteoporosis with Fractures X-linked parkinsonism X-linked Parkinsonism-Spasticity Syndrome X-linked peripheral neuropathy X-linked pigmentary disorder X-linked Progressive Cerebellar Ataxia X-linked progressive spastic paraplegia X-linked Pure Spastic Paraplegia X-linked Recessive Hypercalciuric Hypophosphatemic Rickets X-linked Recessive Nephrolithiasis X-linked Recessive Ocular Albinism X-linked Reticulate Pigmentary Disorder X-linked retinal dystrophy X-linked Scapuloperoneal Muscular Dystrophy X-linked scapuloperoneal syndrome X-linked Severe Congenital Neutropenia X-linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection X-linked Sideroblastic Anemia X-linked Sideroblastic Anemia with Ataxia X-linked sideroblastic anemia with spinocerebellar ataxia X-linked skeletal dysplasia X-linked Skeletal Dysplasia-Intellectual Disability Syndrome X-linked spastic paraplegia X-linked Spastic Paraplegia Type 16 X-linked Spastic Paraplegia Type 2 X-linked Spastic Paraplegia Type 34 X-linked spasticity syndrome X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome X-linked Spinal and Bulbar Muscular Atrophy X-linked spinal muscular atrophy type 2 X-linked Spinal Muscular Atrophy with Respiratory Distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type X-linked thrombocytopenia X-linked thrombocytopenia syndrome X-linked thrombocytopenia with normal platelets X-linked vascular malformation syndrome Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Xia-Gibbs syndrome XIAP deficiency syndrome XK aprosencephaly syndrome XK syndrome Xp deletion syndrome Xp21 contiguous gene deletion syndrome Xp21 deletion syndrome Xp21 microdeletion syndrome Xp22.13-p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq duplication syndrome Xq12-q13.3 duplication syndrome Xq21 microdeletion syndrome Xq22.3 microdeletion syndrome Xq25 microduplication syndrome Xq25 microtriplication Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome XX, male syndrome XXX syndrome XY gonadal agenesis syndrome XY sex reversal-adrenal failure XY type gonadal dysgenesis-associated anomalies syndrome Xylitol dehydrogenase deficiency XYLT1-CDG XYY Syndrome	Choose Sign
1-alpha-hydroxylase deficiency 10p12p11 microdeletion syndrome 10p13-p14 deletion syndrome 10p15.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11-beta-hydroxysteroid dehydrogenase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 11p11.2 deletion syndrome 11p15.4 microduplication syndrome 11q terminal deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21 microdeletion syndrome 12q24.31 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q22 deletion syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 17q24.2 microdeletion syndrome 18p deletion syndrome 18q deletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1p36.33 duplication syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11.2 deletion syndrome (Velocardiofacial syndrome) 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2A syndrome 2p13.2 microdeletion syndrome 2p14p15 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 contiguous gene deletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2p25.3 microduplication syndrome 2q13 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q31.1 microdeletion syndrome 2q32q33 deletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-M syndrome 3-mercaptopyruvate sulfurtransferase deficiency 3-methylglutaconic aciduria 3-methylglutaconic aciduria epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic aciduria neonatal cataract-neurologic involvement congenital neutropenia syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3MC syndrome 3MG-CoA hydratase deficiency 3p deletion syndrome 3q subtelomere deletion syndrome 3q13 microdeletion syndrome 3q23 microdeletion syndrome 3q26 microduplication syndrome 3q27.1 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microduplication syndrome 3qter deletion syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 45,X/46,XX mosaicism 45,X/46,XX syndrome 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgen excess 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone resistance 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to maternal exposure to endocrine disruptors 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial luteinizing hormone resistance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development due to testosterone synthesis defect 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Abortion - Spontaneous Abruptio Placentae Achlorhydria Acrocephalopolysyndactyly type III (Bixler-Christian-Gorlin syndrome) Acromegaly Actinic lichen planus Acute Myeloid Leukaemia Addison's Disease Adult Still's Disease AIDS Allergic Bronchopulmonary Disease Allergic Reactions Allergic Rhinitis Alpha 1-Antitrypsin Deficiency Alpha Thalassaemia Carrier Alpha Thalassaemia Trait Amyloidosis Anaemia Anaemia - Aplastic Anaphylactoid Reaction - Severe Anencephaly Ankylosing Spondylitis Antley-Bixler Syndrome Aortic Aneurysm Aortic Coarctation Aortic Dilatation Aortic Dissection Aortic Regurgitation Aortic Rupture Aortic Stenosis Aortic Valve Insufficiency Aphasia - Progressive Nonfluent Appendicitis Arteriosclerosis Arthritis Asthma Atelactasis Atrial Septal Defect Atrophic Gastritis Attention Deficit Hyperactivity Disorder (ADHD) Autism B-ALL with t(9;22)(q34.1;q11.2) B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and T-cell anergy disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell lymphoma B-cell NHL B-cell non-Hodgkin lymphoma B-cell prolymphocytic leukemia B-K mole syndrome B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); KMT2A rearranged B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome B4GALT1-CDG B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BACH2-related immunodeficiencyautoimmunity syndrome Bachmann-Bupp syndrome Bacteriaemia Bacterial myositis Bacterial toxic shock syndrome Bader syndrome BAG3-related myofibrillar myopathy Bahemuka-Brown syndrome Bailey-Bloch congenital myopathy Bainbridge-Ropers syndrome Baird syndrome Baker-Gordon syndrome Bakrania-Ragge syndrome Balanced complete atrioventricular canal Balanced partial atrioventricular canal Balantidiasis Balint syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth-Lazarus syndrome Band-like calcification with simplified gyration and polymicrogyria Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Baralle-Macken syndrome Barber-Say syndrome Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome type 2 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome type 5 Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Bartsocas-Papas syndrome Bartter Syndrome Bartter syndrome type 1 Bartter syndrome type 2 Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome with sensorineural hearing loss Basal Cell Carcinoma Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan-Baird syndrome Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Smirin-Yosef syndrome BASIL syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Baughman syndrome Bazex-Dupré-Christol syndrome BCAS3-related neurodevelopmental disorder BCL11B-related neurodevelopmental disorder BCR-ABL1-like B-ALL Beaulieu-Boycott-Innes syndrome Beck-Fahrner syndrome Becker dystrophinopathy Beckwith - Wiedemann Syndrome Bedouin spastic ataxia syndrome Behavioral variant frontotemporal dementia Behcets Syndrome Bell's Palsy Bellini carcinoma Bellini duct carcinoma Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonus epilepsy Benign atrophic papulosis Benign cephalic histiocytosis Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus Benign congenital sixth cranial nerve palsy Benign familial chorea Benign familial infantile epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign hyperferritinemia Benign intracranial hypertension Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign nocturnal alternating hemiplegia of childhood Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 (BRIC2) Bennion-Patterson syndrome Benson syndrome Bent bone dysplasia BENTA disease Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Bernard-Soulier syndrome Berti lymphoma Berylliosis Best macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycan-related limb-girdle muscular dystrophy Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Beta2-microglobulinic amyloidosis Bethlem muscular dystrophy Beukes familial hip dysplasia BH4-responsive phenylketonuria BH4-unresponsive phenylketonuria BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bicervical bicornuate uterus Bickers-Adams syndrome Bickerstaff brainstem encephalitis Biemond syndrome Bietti crystalline dystrophy Bifid femur-monodactylous ectrodactyly syndrome Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria Bilateral striopallidodentate calcinosis Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Biliary Cirrhosis Biliary cystadenocarcinoma Biliary hamartoma Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-induced neurological dysfunction Binder syndrome Biochemical variant galactosemia Biotin-responsive basal ganglia disease Biparietal Alzheimer disease Bipartite talus Bipolar Disorder Birdshot chorioretinopathy Birk-Barel syndrome Bitemporal aplasia cutis congenita Björnstad syndrome Bladder Carcinoma - Squamous Cell Bladder pain syndrome Blake pouch cyst Blakemore-Durmaz-Vasileiou syndrome Blastic plasmacytoid dendritic cell neoplasm Blau syndrome Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to CalDAG-GEFI deficiency Bleeding disorder due to P2Y12 defect Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosis epicanthus inversus syndrome plus (BPES plus) Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-telecanthus-microstomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Blood Vessel Rupture Blount disease Blue colour blindness Blue cone monochromacy Blue diaper syndrome Blue rubber bleb nevus Bockenheimer syndrome Body cavity-based lymphoma Body integrity dysphoria Body integrity identity disorder Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body stalk anomaly Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia-medullary fibrosarcoma syndrome Bone filaminopathy Bone fragility-contractures-arterial rupture-hearing loss syndrome Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Bone marrow failure-diabetes mellitus syndrome Bone necrosis Bone necrosis of genetic origin Bone sarcoma Bonneau syndrome Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borderline vascular neoplasm Borderline vascular tumor Borna virus encephalitis Bornholm eye disease Borrmann gastric cancer type 4 Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Boucher-Neuhäuser syndrome Bowel Obstruction Bowel Rupture Bowen-Conradi syndrome Boyadjiev-Jabs syndrome BPES type 1 BPES type 2 BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Brachial plexus neuritis Brachmann-de Lange syndrome Brachmann-de Lange syndrome type 1 Brachmann-de Lange syndrome type 2 Brachmann-de Lange syndrome type 3 Brachmann-de Lange syndrome type 4 Brachmann-de Lange syndrome type 5 Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B1 Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly, Farabee type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia intellectual disability-heart defects syndrome Brachydactyly-nystagmus cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Bradykinin-induced angioedema Bradyopsia Brailsford disease Brain abnormalities neurodegeneration-dysosteosclerosis disease Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain Abscess Brain Agenesis Brain arteriovenous malformation, nidus type Brain calcification, Rajab type Brain cortical dysplasia Brain dopamine-serotonin vesicular transport disease Brain inflammatory disease Brain malformation due to abnormal neuronal migration Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain Stem Syndrome Brain-lung-thyroid syndrome Branch pulmonary artery stenosis Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial arch or oral-acral syndrome Branchial arch syndrome Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiogenic hearing loss syndrome Branchiootic syndrome Branchiootorenal spectrum disorder Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever Brazilian pemphigus BRE syndrome Breast implant-associated ALCL Breast implant-associated anaplastic large cell lymphoma BRESEK syndrome Bresheck syndrome BRIC BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle cornea syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Brock s Syndrome Brodie abscess Brodie myopathy Brody myopathy Bronchial malformation Bronchial NET Bronchial neuroendocrine tumor Bronchial Obstruction Bronchiectasis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia syndrome Bronchiolitis obliterans syndrome Bronchitis Bronchoesophageal Fistula Bronchogenic carcinoma Bronchopneumonia Bronchopulmonary sequestration Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Sequard's Syndrome BRPF1-related neurodevelopmental disorder Brucella melitensis infection Brucella suis infection Bruck syndrome Brugada Syndrome Brugada syndrome type 1 Brugada syndrome type 2 Brugada syndrome type 3 Brunner syndrome Brunner syndrome type 1 Brunner syndrome type 2 Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Bruton agammaglobulinemia BSEP deficiency Buckley syndrome Budd-Chiari Syndrome Budd-Chiari-like syndrome Buerger-like disease Bulbar Paralysis Bulbospinal muscular atrophy Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous dermolysis of the newborn Bullous diffuse cutaneous mastocytosis Bullous impetigo Bullous lichen planus Bullous pyoderma gangrenosum Bullous systemic lupus erythematosus Buphthalmia Buphthalmos Buphthalmus Burkholderia mallei infection Burkholderia pseudomallei infection Burkitt s Lymphoma Burkitt-like lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff-like syndrome Butterfly vertebrae syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome BWS due to imprinting defect of 11p15 BWS due to paternal uniparental disomy of chromosome 11 Byler disease Byler-like disease Böök syndrome Cancer - Oesophagus Caplan's Syndrome Carcinoma Cardiac Amyloidosis Cardiac Failure Cardiomyopathy Cardiovascular Disease Carnitine palmitoyltransferase I deficiency Carpal Tunnel Syndrome Central Core Disease Cerebral Atrophy Cerebral Haemorrhage Cerebral Infarction Cerebral Palsy Cerebral Vein Thrombosis Cerebritis Cerebrovascular Accident Cervical Lymphadenitis CHARGE Syndrome Cholecystitis Choledochal Cyst Cholestasis Chronic Hepatitis Chronic Myelomonocytic Leukaemia (CMML) Chronic traumatic encephalopathy (Boxer's dementia) Cirrhosis Cleft Lip Cleft Palate CNS - Demyelinating Lesions CNS Haemangioblastoma CNS Parenchymal Disease Coagulopathy Coeliac Disease Colitis Collagen-vascular Diseases Colon - Amoeboma Colon - Obstruction Colon - Perforation Colon - Stricture Colon - Toxic Dilatation Colon - Volvulus Colorectal Cancer Common Bile Duct Obstruction Congenital contractural arachnodactyly (Beals syndrome) Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome type 1, BSCL type 1) Congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome type 2, BSCL type 2) Congenital generalized lipodystrophy type 3 (Berardinelli-Seip syndrome type 3, BSCL type 3) Congenital generalized lipodystrophy type 4, BSCL type 4 Congenital Heart Defect Congenital lipoid adrenal hyperplasia due to STAR deficiency Congestive Cardiac Failure COPD Cor Pulmonale Cord Compression Crohn Disease Crouzon Syndrome CRST Syndrome Cushing's Syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cyclocephaly Cystic Fibrosis Cystic transformation of pancreatic acini D+ HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria Da Silva syndrome DA1 DA10 DA2B DA5D Dabska tumor Dacryocele Dacryocystocele DADA2 Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy - Walker Syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Daneman-Davy-Mancer syndrome Danon disease Dapsone hypersensitivity syndrome Dapsone-induced hemolytic anemia Darbepoetin alfa-induced pure red cell aplasia Darcy disease Darier-like disease Dark skin susceptibility to melanoma Darmstadt syndrome DARS2-related leukoencephalopathy Dasyprocta syndrome Datura poisoning Davis syndrome Dawson disease Day blindness Day blindness with myopia Day blindness, congenital stationary Day blindness, Oguchi type Day blindness, progressive Day blindness, stationary DBA DBS syndrome DCAF17-related syndrome DCHS1-related mitral valve prolapse syndrome DCLRE1C deficiency DCP2-related neurodevelopmental disorder De Barsy syndrome De Grouchy syndrome De Grouchy syndrome type 1 De Grouchy syndrome type 2 De Lange syndrome De Morsier syndrome De Quervain thyroiditis De Sanctis syndrome De Sanctis-Cacchione syndrome Deafness dystonia syndrome Deafness-encephalopathy-fatty liver syndrome Deafness-infertility syndrome Deafness-myopathy syndrome Deafness-nephropathy syndrome Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome Deafness-renal anomalies syndrome Deafness-renal-genital syndrome Deafness-retinitis pigmentosa syndrome Deafness-short stature-facial dysmorphism syndrome Deafness-skeletal anomalies syndrome Deafness-vision impairment syndrome Death cap mushroom poisoning DeBarsy syndrome Decubitus ulcers Dejerine-Roussy syndrome Dejerine-Sottas disease Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p21.3) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(10)(p11.21p12.31) Del(10)(p13p14) Del(10)(p15.3) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q22q23) Del(14)(q32) Del(15)(q11q13) Del(15)(q13.3) Del(15)(q24) Del(15)(q26) Del(16)(p11.2) Del(16)(p13.3) Del(16)(q22) Del(17)(p11.2) Del(17)(p12) Del(17)(p13.3) Del(17)(q12) Del(17)(q21.31) Del(18)(p11.2) Del(18)(q12.2) Del(18)(q21) Del(18)(q23) Del(19)(p13.3) Del(19)(q13.11) Del(2)(p11.2) Del(2)(p16.1) Del(2)(p21) Del(2)(p25) Del(2)(q13) Del(2)(q21q23) Del(2)(q31) Del(2)(q32) Del(2)(q33.1) Del(2)(q37) Del(20)(p12.3) Del(20)(q11.2) Del(20)(q13.11) Del(21)(q21) Del(21)(q22.11) Del(21)(q22.13) Del(21)(q22.2) Del(22)(q11.2) Del(22)(q13) Del(3)(p13) Del(3)(p14) Del(3)(p21.31) Del(3)(p25) Del(3)(q13.31) Del(3)(q21q22) Del(3)(q25) Del(3)(q29) Del(4)(p14) Del(4)(p16) Del(5)(q22) syndrome Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25.2q25.3) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)(q24.3) Del(8)q(13) Del(9)(p13) Del(9)(q21.3) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(X)(p21) Del(X)(p23) Del(X)(q21) Delayed encephalopathy due to carbon monoxide poisoning Delayed membranous cranial ossification Delayed sleep phase syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delleman-Oorthuys syndrome Delpire-McNeill syndrome Delta granule disease Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-aminolevulinic acid dehydratase deficiency porphyria Delta-storage pool disease Demyelinating Charcot-Marie-Tooth disease Demyelinating neuropathy-central dysmyelination-Waardenburg syndrome Demyelinating polyneuropathy with deafness and cranial nerve involvement Demyelinating sensorimotor neuropathy Demyelination with brain stem and spinal cord involvement and lactate elevation Dengue Haemorrhagic Fever - DHF Dengue hemorrhagic fever Dengue Shock Syndrome - DSS Dens invaginatus Dense deposit disease Dentatorubral-pallidoluysian atrophy Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta Denture stomatitis Denys-Drash syndrome Deoxyguanosine kinase deficiency Deoxyribose phosphate aldolase deficiency Depersonalization-derealization disorder Deprenyl-associated psychosis Depression with psychotic features Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(22)t(11;22) syndrome Der(8)t(8;12) Dercum disease Dermal hypoplasia focal Dermal sinus tract Dermatillomania Dermatitis granulomatous interstitial Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermatostomatitis, Stevens Johnson type Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermoid or epidermoid cyst of the central nervous system Dermolytic epidermolysis bullosa Dermoodontodysplasia Dermotrichic syndrome DES embryofetopathy DES syndrome Desanto-Shinawi syndrome Desbuquois dysplasia DESC syndrome Desert fever Desert rheumatism Desmin-related myopathy Desmoid tumor Desmoplastic infantile astrocytoma Desmoplastic melanoma Desmoplastic small round cell tumor Desmosterolosis Desquamative interstitial pneumonia Developmental and epileptic encephalopathy due to GRIN1 mutation Developmental and epileptic encephalopathy due to SCN1A mutation Developmental and epileptic encephalopathy due to STXBP1 mutation Developmental delay with hypotonia and facial dysmorphism Developmental delay with microcephaly and seizures Developmental dysplasia of the hip Developmental encephalopathy with epilepsy Developmental regression-intellectual disability syndrome Dextrocardia with situs inversus Dextroposition of the heart Dextrotransposition of the great arteries Diabetes insipidus Diabetes Insipidus Diabetes insipidus, central Diabetes insipidus, nephrogenic Diabetes Mellitus Diabetes mellitus due to insulin receptor deficiency Diabetes mellitus due to mitochondrial DNA mutation Diabetes mellitus due to pancreatic agenesis Diabetes mellitus, permanent neonatal Diabetic Ketoacidosis Dialysis-related amyloidosis Dialysis-related arthropathy Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic or abdominal wall malformation Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Dias-Logan syndrome Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diastrophic dysplasia variant Diastrophic dysplasia-limb shortening syndrome Diastrophic dysplasia-micrognathia syndrome Diastrophic dysplasia-vertebral anomalies syndrome Diastrophic-like dysplasia Diastrophic-like dysplasia with joint contractures Diastrophic-like dysplasia with vertebral anomalies Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Dicarboxylic aminoaciduria DICER1 tumor-predisposition syndrome Didelphys uterus DIDMOAD syndrome DIDOD Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Dietary iron overload disease Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Diets-Jongmans syndrome Difference of sex development Difference of sex development of gynecological interest Difference of sex development-intellectual disability syndrome Diffuse alveolar hemorrhage Diffuse capillary malformation with overgrowth Diffuse cutaneous mastocytosis Diffuse dermal angiomatosis Diffuse esophageal leiomyomatosis Diffuse gastric cancer, hereditary Diffuse idiopathic skeletal hyperostosis Diffuse infantile hepatic hemangioma Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the CNS Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse panbronchiolitis Diffuse pulmonary lymphangiomatosis Diffuse scleroderma Diffuse systemic sclerosis Diffuse Unilateral Subacute Neuroretinitis Diffuse vascular malformation syndrome Diffuse white matter abnormality with spasticity and dementia Diffuse white matter disease with axonal spheroids Diffuse-type tenosynovial giant cell tumor Digital clubbing Digital fibromatosis, infantile Digital ulcers in systemic sclerosis Dihydropteridine reductase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DILE DiMauro disease Dimethylglycine dehydrogenase deficiency Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphyllobothriasis Diplomyelia Diplophthalmia Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Discoid lupus erythematosus Discoid lupus erythematosus, familial Discoid meniscus Disconnection syndrome Discontinuous splenogonadal fusion Discrepant atrioventricular connections Diseminated superficial actinic porokeratosis Dishevelled hair syndrome Disinhibition-dementia-parkinsonism-amyotrophy complex Dislocation of the patella, congenital Disorders of biopterin metabolism Disorders of cobalamin metabolism Disorders of creatine metabolism Disorders of fructose metabolism Disorders of galactose metabolism Disorders of glycine metabolism Disorders of lysine metabolism Disorders of mitochondrial DNA maintenance Disorders of proline metabolism Disorders of serine metabolism Disorders of sulfur metabolism Disorders of tetrahydrobiopterin metabolism Disorders of tyrosine metabolism Disorders of valine metabolism Disseminated actinic granuloma Disseminated adenovirus infection Disseminated Intravascular Coagulation Disseminated peritoneal leiomyomatosis Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal anoctaminopathy Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 10p syndrome Distal deletion 10q syndrome Distal deletion 12p syndrome Distal deletion 12q syndrome Distal deletion 13q syndrome Distal deletion 14q syndrome Distal deletion 15q syndrome Distal deletion 17q syndrome Distal deletion 19p syndrome Distal deletion 1q syndrome Distal deletion 3p syndrome Distal deletion 4p Distal deletion 4q syndrome Distal deletion 6p syndrome Distal deletion 6p25 Distal deletion 7p syndrome Distal deletion 7q36 Distal deletion 9p syndrome Distal dup(22)(q11.2) Distal dup(7)(q11.23) Distal dup(X)q(28) Distal duplication 10q syndrome Distal duplication 11q syndrome Distal duplication 13q syndrome Distal duplication 14q syndrome Distal duplication 15q syndrome Distal duplication 16p Distal duplication 16q syndrome Distal duplication 17q syndrome Distal duplication 18q syndrome Distal duplication 19q syndrome Distal duplication 1p36 syndrome Distal duplication 20q syndrome Distal duplication 22q syndrome Distal duplication 2p syndrome Distal duplication 2q syndrome Distal duplication 3p syndrome Distal duplication 4p syndrome Distal duplication 4q syndrome Distal duplication 5q syndrome Distal duplication 6p syndrome Distal duplication 6q syndrome Distal duplication 7p syndrome Distal duplication 8p syndrome Distal duplication 8q syndrome Distal duplication 9p syndrome Distal duplication 9q syndrome Distal hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 Distal hereditary motor neuropathy type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal Intestinal Obstruction Syndrome Distal myopathy Distal myopathy type 1 Distal myopathy type 2 Distal myopathy type 3 Distal myopathy type 4 Distal myopathy type 5 Distal trisomy 22q11.2 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy Xq28 Distal-HMN type 6 Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK phocomelia syndrome DK1-CDG DKC DLBCL of the CNS DLG3-related intellectual disability DLX5-related split hand-foot malformation DM1 DM2 DMDD DMGDH deficiency DMPK-related myotonic dystrophy DNA repair disorder with growth deficiency (Bloom syndrome) DNM2-related centronuclear myopathy DNMT3A overgrowth syndrome DNMT3A-related intellectual disability syndrome DOCK2 deficiency DOCK8 deficiency Dolichocephaly Dolichol kinase deficiency Dolichyl-phosphate-mannose synthase 1 deficiency Dolichyl-phosphate-mannose synthase 2 deficiency Dolichyl-phosphate-mannose synthase 3 deficiency Dolichyl-phosphate-mannose synthase deficiency Dolichyl-phosphate-mannose synthase deficiency-dystroglycanopathy syndrome Dolly syndrome Dominant beta-thalassemia Dominant drusen Dominant dystrophic epidermolysis bullosa Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant optic atrophy Dominant optic atrophy plus syndrome Dominant optic atrophy with cataract Dominant optic atrophy with deafness Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome DONSON-related microcephaly-short stature-limb abnormalities spectrum DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dopamine transporter deficiency syndrome Dorfman-Chanarin syndrome Dorsal spinal cord lipoma Double A syndrome Double discordance Double inlet atrioventricular connection Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Down syndrome due to mosaic trisomy 21 Down syndrome due to translocation Down syndrome with acute lymphoblastic leukemia Down syndrome with acute myeloid leukemia Down syndrome with transient myeloproliferative disorder Dravet syndrome Dreifuss muscular dystrophy Drepanocytosis DRESS syndrome Drinking water-associated arsenic toxicity Drooling-choreoathetosis syndrome Drop attacks DRPLA Drug reaction with eosinophilia and systemic symptoms Drug-induced agranulocytosis Drug-induced aseptic meningitis Drug-induced autoimmune hemolytic anemia Drug-induced autoimmune thrombocytopenia Drug-induced cholestasis Drug-induced eosinophilia Drug-induced hypersensitivity syndrome Drug-induced immune thrombocytopenia Drug-induced interstitial lung disease Drug-induced lupus erythematosus Drug-induced myopathy Drug-induced pancreatitis Drug-induced parkinsonism Drug-induced photosensitivity Drug-induced pneumonitis Drug-induced pruritus Drug-induced QT prolongation Drug-induced thrombocytopenia Drug-induced vasculitis Dry eye syndrome, severe congenital Dry scalp syndrome Dubowitz syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy with cardiomyopathy Duchenne muscular dystrophy, female carrier Ductal plate malformation Duodenal duplication Duodenal obstruction Dysostosis Multiplex Eales disease Ear Infections Ear-patella-short stature syndrome Early infantile developmental and epileptic encephalopathy Early onset familial encephalopathy with neuroserpin inclusion bodies Early onset non-syndromic cataract Early onset progressive leukoencephalopathy central nervous system calcification hearing loss visual impairment syndrome Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Early-onset autosomal recessive TTN-related distal myopathy Early-onset benign childhood occipital epilepsy Early-onset calcifying leukoencephalopathy skeletal dysplasia Early-onset cerebellar ataxia with retained tendon reflexes Early-onset citrullinemia type 1 Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy intellectual disability brain anomalies syndrome Early-onset familial hyperreninemic hypoaldosteronism Early-onset generalized torsion dystonia Early-onset idiopathic chronic pancreatitis Early-onset Lafora body disease Early-onset obesity-hyperphagia severe developmental delay syndrome Early-onset Parkinson disease Early-onset parkinsonism intellectual disability syndrome Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindness-ataxia spasticity syndrome Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to AP3D1 deficiency Early-onset severe retinal dystrophy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome East Texas bleeding disorder Eastman-Bixler syndrome Eating reflex epilepsy EBV-associated gastric carcinoma EBV-associated lymphoproliferative disorder EBV-associated mesenchymal tumor EBV-induced lymphoproliferative disease due to CARMIL2 deficiency EBV-induced lymphoproliferative disease due to CD70 deficiency EBV-induced lymphoproliferative disease due to CTPS1 deficiency EBV-induced lymphoproliferative disease due to PRKCD deficiency EBV-induced lymphoproliferative disease due to RASGRP1 deficiency EBV-positive diffuse large B-cell lymphoma Eccrine angiomatous hamartoma Ectasia of the left atrial appendage Ectasia of the right atrial appendage Ectasic coloboma Ectodermal dysplasia Ectodermal dysplasia Berlin type Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth Ectodermal dysplasia with natal teeth Turnpenny type Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic neurohypophysis Eczema Encephalitis - Diffuse Encephalitis - Focal Encephalomyelitis Encephalopathy Endocarditis Endometrial Neuroendocrine Tumour Endophthalmitis Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy Enteropathy-associated T-cell lymphoma Enthesitis-related juvenile idiopathic arthritis Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic cystitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granulomatosis with polyangiitis Ependymoma EPHB4-related capillary malformation-arteriovenous malformation EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis Epiblepharon Epibronchial right pulmonary vein syndrome Epicardial coronary artery fibromuscular dysplasia Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermal nevus syndrome (Becker nevus syndrome) Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with nephropathy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic palmoplantar keratoderma Epididymo-Orchitis Epignathus Epilepsia partialis continua Epilepsy Epilepsy of infancy with migrating focal seizures Epilepsy with auditory features Epilepsy with eyelid myoclonia Epilepsy with generalized tonicclonic seizures alone Epilepsy with myoclonic absences Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with spike-and-wave activation in sleep Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelial tumor of anal canal Epithelial tumor of the appendix Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature Equinia Erdheim-Chester disease ERF-related syndromic craniosynostosis Erosive pustular dermatosis of the scalp Erysipelas Erythema elevatum diutinum Erythema multiforme major Erythema palmare hereditarium Erythematous Candida Erythrocyte GALE deficiency Erythrocyte lactate transporter defect Erythrodermic ichthyosis Erythrokeratoderma variabilis progressiva Erythrokeratoderma with ataxia Erythrokeratodermia-cardiomyopathy syndrome Erythroleukemia Escher-Hirt syndrome Escobar syndrome Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction Esophageal atresia with or without trachea-esophageal fistula Esophageal squamous cell carcinoma Essential mixed cryoglobulinemia Estrogen resistance syndrome Ethylene glycol poisoning Ethylmalonic encephalopathy Euhidrotic ectodermal dysplasia Euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dystransthyretinemic hyperthyroxinemia Euthyroid Graves orbitopathy EVEN-plus syndrome Excess breast volume or number Excretory apparatus of the lacrimal system anomaly Exencephaly Exercise intolerance with lactic acidosis Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermia-brachydactyly type E syndrome Exposure-related interstitial lung disease Exstrophy-epispadias complex Extensive venous malformation External auditory canal aplasia/hypoplasia Extra-adrenal aldosterone-producing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germ cell tumor Extragonadal germinoma Extragonadal non-dysgerminomatous germ cell tumor Extragonadal teratoma Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraskeletal myxoid chondrosarcoma Extrathoracic heart Extraventricular neurocytoma Extremity fibromuscular dysplasia Extrinsic Allergic Alveolitis Eye-brow duplication-syndactyly syndrome EZH2-related overgrowth syndrome F syndrome F12-related hereditary angioedema with normal C1 inhibitor FACES syndrome Facial cleft Facial dermoid cyst Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism hypertrichosis-epilepsy-intellectual disability-developmental delay-gingival overgrowth syndrome Facial dysmorphism macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-anorexia cachexia-eye and skin anomalies syndrome Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy Facial dysmorphism-global developmental delay-hypotoniapolymicrogyria syndrome Facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities spontaneous filtering blebs syndrome Facial dysmorphism-ocular anomalies-osteopenia-intellectual disabilitydental anomalies syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial granuloma of Lever Facial hemispasm Facial infiltrating lipomatosis Facial nerve palsy due to varicella zoster virus Facial neuralgia Facial onset sensory and motor neuronopathy Facio-audio-symphalangism syndrome Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary dissociation Facio-pharyngo-glosso-masticatory diplegia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Factor IX deficiency, Leyden type Factor V Amsterdam bleeding disorder Factor V and Factor VIII combined deficiency Factor V Atlanta bleeding disorder Factor V East Texas bleeding disorder Factor V Quebec Factor V short isoforms-related bleeding disorder FADD-related immunodeficiency FAH deficiency FAHN Fallot complex-intellectual disability-growth delay syndrome Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adrenal hypoplasia Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type IV Familial Amyloid Syndromes Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial APOA5 deficiency Familial apoC-II deficiency Familial apolipoprotein A-V deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial articular hypermobility syndrome Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial breast cancer Familial breast carcinoma Familial calcium pyrophosphate deposition disease Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CD8 deficiency Familial cerebral amyloid angiopathy Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial chilblain lupus Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold autoinflammatory syndrome type 4 Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer type X Familial congenital contralateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial continuous skin peeling syndrome Familial cortical myoclonic tremor and epilepsy Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cylindromatosis Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dyslipidemia type 3 Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial gigantiform cementoma Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type 4 Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinsulinemic hypoglycemia Familial hyperinsulinism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperphosphatemic tumoral calcinosis Familial hyperprolactinemia Familial hyperthyroidism due to TSH receptor mutation Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial idiopathic steroidresistant nephrotic syndrome Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation Familial intestinal polyposis Familial intracranial saccular aneurysm Familial intrahepatic cholestasis Familial intraosseous vascular malformation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form Familial isolated arrhythmogenic ventricular dysplasia, right-dominant form Familial isolated café-au-lait macules Familial isolated café-au-lait spots Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated retinal arteriolar tortuosity Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial macular edema Familial median cleft of the upper and lower lips Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy Familial mitral valve prolapse Familial monosomy 7 syndrome Familial multinodular goiter Familial multiple cutaneous leiomyomas Familial multiple discoid fibromas Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichodiscomas Familial multiple trichoepithelioma Familial nasal acilia Familial non-immune hyperthyroidism Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial nonmedullary thyroid carcinoma Familial nonpolyposis colorectal cancer Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteonecrosis of femoral head Familial pancreatic cancer Familial papillary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial partial epilepsy Familial partial epilepsy with variable foci Familial partial lipodystrophy Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial pelvis-scapular dysplasia Familial peripheral male-limited precocious puberty Familial pheochromocytomaparaganglioma Familial platelet disorder with associated myeloid malignancy Familial platelet disorder with predisposition to acute myeloid leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial porencephaly Familial porphyria cutanea tarda Familial primary hyperparathyroidism Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma Familial prion disease Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive subcortical gliosis Familial prostate cancer Familial pseudohyperkalemia Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain syndrome Familial recurrent arthritis Familial recurrent Bell palsy Familial renal amyloidosis Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial renal hypouricemia Familial retinal arterial macroaneurysm Familial scaphocephaly syndrome Familial scaphocephaly-radioulnar synostosis syndrome Familial schizencephaly Familial spastic paraplegia Familial spontaneous pneumothorax Familial startle disease Familial syringomyelia Familial systemic lupus erythematosus Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and dissection Familial thrombocythemia Familial thrombocytosis Familial thyroglossal duct cyst Familial transthyretin-related amyloidosis Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial woolly hair syndrome Fanconi Syndrome Fanconi-Bickel syndrome FAR1 deficiency Fara-Chlupackova syndrome Fara-Chlupackova syndrome type 1 Fara-Chlupackova syndrome type 2 Farber disease Fasciolopsiasis Fast-channel congenital myasthenic syndrome Fast-flow vascular malformation FASTKD2-related infantile mitochondrial encephalomyopathy Fatal Familial Insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile hypertonic myofibrillar myopathy Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal pontocerebellar hypoplasiahypotonia-respiratory insufficiency syndrome Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation disorder with cardiomyopathy Fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 superactivity Faulk-Epstein-Jones syndrome Favism FBLN1-related developmental delay-central nervous system anomalysyndactyly syndrome FBPase deficiency Febrile infection-related epilepsy syndrome Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Felty's Syndrome Female adnexal tumor of probable Wolffian origin Female infertility due to implantation defect of genetic origin Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome Femur-fibula-ulna complex Femur-fibula-ulna syndrome Fenestrae parietales symmetricae Fenton-Wilkinson-Toselano syndrome Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acetylcholine receptor antibody-related disorder Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal Alcohol Syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal anticonvulsant syndrome Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal Death Fetal Distress in Labour Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal iodine syndrome Fetal lower urinary tract obstruction Fetal lung interstitial tumor Fetal methylmercury poisoning Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fetal valproate syndrome Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathy Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children Fibro-adipose vascular anomaly Fibroblastic rheumatism Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrolamellar hepatocellular carcinoma Fibrolipomatous filum terminale anomaly Fibroma-like epithelioid sarcoma Fibromuscular dysplasia Fibromuscular dysplasia of cervical and intracranial arteries Fibromuscular dysplasia of renal arteries Fibromuscular dysplasia of the arteries of the extremities Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing Alveolitis Fibrosing mediastinitis Fibrotic hypersensitivity pneumonitis Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Filamin A-related X-linked myxomatous valvular dysplasia Filamin C-related myofibrillar myopathy Filamin-related bone disorder Filariasis Filippi syndrome FILS syndrome FINCA syndrome Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hidradenoma Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed drug eruption Fixed subaortic stenosis FKBP14-related Ehlers-Danlos syndrome FKRP-related limb-girdle muscular dystrophy FKTN-related congenital muscular dystrophy Fleck corneal dystrophy Flegel disease FLNA-related valvular dystrophy FLNC-related distal myopathy Floating-Harbor syndrome Floppy Valve Syndrome Florid cemento-osseous dysplasia Flow limitation in the iliac artery Fluctuating myotonia Flynn-Aird syndrome Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal facial dermal dysplasia Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type 2 Focal facial dermal dysplasia type 3 Focal facial dermal dysplasia type 4 Focal intestinal perforation Focal myositis Focal nodular myositis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Focal segmental glomerulosclerosis (FSGS) Focal stiff-person syndrome Fogo selvagem Foix-Chavany-Marie syndrome Folate Deficiency Folate receptor alpha deficiency Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Folliculotropic mycosis fungoides Fontaine progeroid syndrome Fontan-associated liver disease Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome FOSL2-related neurodevelopmental disorder FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler urethral sphincter dysfunction syndrome Fowler vasculopathy Fowler-Christmas-Chapple syndrome FOXG1 syndrome FOXG1 syndrome due to 14q12 microdeletion FOXG1 syndrome due to intragenic alteration FOXG1-related epileptic-dyskinetic encephalopathy FOXP1 syndrome FOXP2-associated speech and language disorder Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor-ataxia syndrome Fragile X-associated tremor/ataxia syndrome Fragoso-Cantú syndrome Franceschetti Oculodigital Sign Franceschetti-Klein syndrome François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Frank-Ter Haar syndrome Fraser syndrome Frasier syndrome FRAXE intellectual disability Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Burian syndrome Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freiberg disease Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frey syndrome Fried syndrome Fried tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia type 1 Frontonasal dysplasia type 2 Frontonasal dysplasia type 3 Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopeciagenital anomalies syndrome Frontonasal dysplasia-bifid noseupper limb anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Fructose-1,6-diphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly syndrome Fryns microphthalmia syndrome Fryns-Hofkens-Fabry syndrome Fucosidosis type I and II Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuhara syndrome Fukutin-related limb-girdle muscular dystrophy Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarylacetoacetase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblE Functioning gonadotropic adenoma Functioning pancreatic neuroendocrine tumor Functioning pituitary adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal keratitis Fungal myositis Furukawa-Takagi-Nakao syndrome Furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Dermatobia hominis Fusariosis Fused mandibular incisors Fusion of metacarpals 4 and 5 Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI Gerstmann-Sträussler-Scheinker disease GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gonadal Dysgenesis Gout Guillain Barre Syndrome Gyrate Atrophy H syndrome H syndrome-like disorder H-ABC H-type tracheoesophageal fistula H1-4-related neurodevelopmental disorder HA20-related monogenic Behcet-like disease Haberland syndrome Haddad syndrome Hadziselimovic syndrome Haemochromatosis Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Haemoglobin E disease Haemoglobin H Disease Haemoglobin H-Constant Spring disease Haemoglobin Lepore syndrome Haemoglobin M-Hyde Park disease Haemoglobin S/D Punjab disease Haemoglobin S/O-Arab disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Haemorrhagic septicemia due to Capnocytophaga canimorsus HAFOUS HAFOUS due to USP7 mutation Hailey-Hailey disease Haim-Munk syndrome Hair-nail ectodermal dysplasia Hairy Cell Leukaemia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome HaNDL syndrome Hanhart syndrome Hanot syndrome Hantavirosis Hantavirus pulmonary syndrome Hao-Fountain syndrome HAPE Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome Hard flaccid syndrome Hardikar syndrome Harding disease Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disorder Hartnup syndrome with pellagra-like rash Hashimoto encephalopathy Hashimoto thyroiditis with encephalopathy Hashimoto-Pritzker syndrome Haspeslagh syndrome Haspeslagh-Fryns-Muelenaere syndrome HbS-Lepore disease HbS-O Arab disease HbS-other specified hemoglobin variant disease HbSD disease HbSE disease HBSL HCD HCDD HCFC1-related disorder HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HD-HA syndrome HDFN HDL1 HDL2 HDL3 HDLS HDR syndrome HDV Head and neck neuroendocrine carcinoma Head and neck paraganglioma Head and neck squamous cell carcinoma, rare hereditary form Headache syndrome due to glycine receptor autoimmunity Healing palmoplantar keratoderma Hearing impairment-cataract-retinal degeneration syndrome Hearing impairment-early graying syndrome Hearing impairment-intellectual disability syndrome Hearing impairment-macular degeneration syndrome Hearing impairment-retinitis pigmentosa syndrome Hearing impairment-thrombocytopenia syndrome Hearing loss with labyrinthine aplasia, microtia, and microdontia Hearing loss-amelogenesis imperfecta syndrome Hearing loss-cardiomyopathy syndrome Hearing loss-cataract syndrome Hearing loss-craniofacial syndrome Hearing loss-epilepsy syndrome Hearing loss-familial salivary gland insensitivity syndrome Hearing loss-hyperopia-clinodactyly syndrome Hearing loss-intellectual disability syndrome, Mariner type Hearing loss-myopia-intellectual disability syndrome Hearing loss-nephritis syndrome Hearing loss-onychodystrophy syndrome Hearing loss-renal disease syndrome Hearing loss-short stature syndrome Hearing loss-vertebral anomalies syndrome Hecht syndrome Hecht-Beals syndrome Heerfordt syndrome Heimler syndrome Heinz body anemia Helicobacter pylori infection Helicobacter pylori-associated gastric carcinoma Heller myopathy HELLP syndrome Helmholtz syndrome Helminthiasis, rare forms Hemangioblastoma Hemangioma, capillary Hemangioma, cavernous Hemangioma, infantile Hemangiomatosis, diffuse neonatal Hemangiopericytoma Hemeralopia-congenital cataract syndrome Hemeralopia-myopia-color blindness-deafness syndrome Hemeralopia-recurrent respiratory infections syndrome Hemiballismus Hemicrania continua Hemifacial microsomia Hemifacial spasm Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly Hemimelic epiphyseal dysplasia Hemiparkinsonism-hemiatrophy syndrome Hemiplegia migraine, familial Hemispheric cerebral agenesis-hypoplasia syndrome Hemochromatosis (Bronze diabetes) Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin M disease Hemoglobin S-beta-thalassemia syndrome Hemoglobin SC disease Hemoglobinopathy due to unstable hemoglobin Hemoglobinopathy Toms River type Hemolytic uremic syndrome with complement factor H deficiency Hemolytic uremic syndrome with complement factor I deficiency Hemolytic uremic syndrome with membrane cofactor protein deficiency Hemolytic uremic syndrome, atypical Hemolytic uremic syndrome, typical Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, secondary Hemophilia C Hemorrhagic cystitis Hemorrhagic disease of the newborn Hemorrhagic shock and encephalopathy syndrome Hemorrhagic stroke due to cerebral amyloid angiopathy Hemorrhagic telangiectasia, cerebral form Hemorrhagic telangiectasia, cutaneous form Hemorrhagic telangiectasia, hepatic form Hemorrhagic telangiectasia, pulmonary form Henoch-Schonlein Purpura Henoch-Schonlein purpura nephritis HEPACAM-related megalencephalic leukoencephalopathy Hepatic adenoma, familial Hepatic epithelioid hemangioendothelioma Hepatic Failure Hepatic glycogen storage disease due to glycogen synthase deficiency Hepatic hemangioma Hepatic lipase deficiency Hepatic mesenchymal hamartoma Hepatic steatosis due to lipodystrophy Hepatic Vein Thrombosis Hepatic veno-occlusive disease with immunodeficiency Hepaticorectal fistula Hepatitis Hepatitis B virus-associated polyarteritis nodosa Hepatitis C virus-associated mixed cryoglobulinemia Hepatitis delta Hepatocele Hepatocellular Carcinoma Hepatocerebral form of mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Hepatocutaneous syndrome Hepatolenticular degeneration Hepatopulmonary syndrome Hepatorenal Failure Hephaestin-related iron transport disease Hereditary acral reticulate pigmentary disorder Hereditary acrokeratotic poikiloderma Hereditary amyloidosis, Finnish type Hereditary amyloidosis, transthyretin-related Hereditary congenital facial paresis Hereditary diffuse gastric cancer Hereditary fibrosing poikiloderma with tendon contractures Hereditary folate malabsorption Hereditary gingival fibromatosis Hereditary hyperekplexia Hereditary hyperferritinemia-cataract syndrome Hereditary inclusion body myopathy Hereditary isolated aplastic anemia Hereditary isolated MTC Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis and renal cell cancer Hereditary Lev-Lenègre disease Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy, Okinawa type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary nephrotic syndrome Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neurogenic diabetes insipidus Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary nonpolyposis colorectal cancer Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary optic neuropathy Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary papillary renal cell carcinoma Hereditary PCCD Hereditary periodic fever syndrome Hereditary periodic fever syndromes Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pituitary hyperplasia Hereditary poikiloderma Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary pseudocholinesterase deficiency Hereditary pseudohaemophilia Hereditary pulmonary alveolar proteinosis Hereditary pulmonary arterial hypertension Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to DNMT1 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with dementia and hearing loss Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary SI-NET Hereditary sick sinus syndrome Hereditary sodium channelopathy-related small fiber neuropathy Hereditary steroid-resistant nephrotic syndrome Hereditary stomatocytic disease Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelodysplasia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defects Hereditary transthyretin amyloid polyneuropathy Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary xerocytosis Heredopathia atactica polyneuritiformis Herlyn-Werner-Wunderlich syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes labialis Herpes simplex virus encephalitis Herpes simplex virus stromal keratitis Herpetiform pemphigus Hers disease Herva disease Heterozygous microdeletion 17p11.2p12 HEXA disorder, adult form HEXA disorder, infantile form HEXA disorder, juvenile form Hexosaminidase activator deficiency Heyn-Sproul-Jackson syndrome High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/or BCL2 and/or BCL6 rearrangements High myopia-sensorineural deafness syndrome Hilar cholangiocarcinoma Hippocampal memory defect leukoencephalopathy Hippocampal sclerosis-related mesial temporal lobe epilepsy Hirayama disease Hirschsprung disease and intellectual disability due to MED13L deficiency Hirschsprung disease and intellectual disability due to ZEB2 deficiency Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome His bundle tachycardia Histidinuria-renal tubular defect syndrome Histiocytic and dendritic cell tumor Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histiocytosis X HITT HIV-associated cancer HJMD HLHS HMC syndrome HMG-CoA lyase deficiency HMG-CoA synthase deficiency HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF1B-related nephropathy HNRNPA1-related adult-onset distal myopathy HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH2-related neurodevelopmental disorder HNRNPK-related neurodevelopmental disorder HNRNPR-related neurodevelopmental disorder HNRPH1-related neurodevelopmental disorder HO-1 deficiency Hobnail hemangioma HOD Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome Hoffmann syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Collins syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holohemispheric giant cerebral arteriovenous malformation Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocystinuria Homocystinuria due to CBS deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous 2p21 microdeletion syndrome Homozygous alpha0-thalassemia Homozygous beta-thalassemia Homozygous delta-beta thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia due to APOB deficiency Homozygous familial hypercholesterolemia due to LDLR deficiency Homozygous familial hypercholesterolemia due to PCSK9 deficiency Homozygous hemoglobin C disease Homozygous hemoglobin D disease Homozygous hemoglobin E disease Homozygous hemoglobin Lepore syndrome Homozygous hemoglobin O Arab disease Homozygous hemoglobin O-Arab disease Homozygous hemoglobin S disease Homozygous hypobetalipoproteinemia Homozygous protein C deficiency Homozygous protein S deficiency Homozygous variegate porphyria Honey-droplet corneal dystrophy Honeycomb corneal dystrophy HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horner Syndrome Hornstein-Knickenberg syndrome Hot water reflex epilepsy Houge-Janssens syndrome-1 Houlston-Ironton-Temple syndrome Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPDL-related Leigh-like encephalopathy HPRT complete deficiency HPRT deficiency HPRT partial deficiency HPS10 HPS2 HRD syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related cerebral small vessel disease Hughes-Stovin syndrome Human herpesvirus 8-related disorder Human herpesvirus-8-associated multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Human infection by orthopoxvirus Human prion disease Humerus trochlea aplasia Hunter-Jurenka-Thompson syndrome Hunter-McAlpine syndrome Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington disease phenocopy due to C9ORF72 expansion Huntington disease phenocopy syndrome Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huppke-Brendel syndrome HUPRA syndrome Huriez syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome Hyaline body myopathy Hyaline fibromatosis syndrome Hyaline membrane disease Hyaline ring granuloma Hyalinosis cutis et mucosae Hyaluronidase 2 deficiency Hyaluronidase deficiency Hybrid acute leukemia Hybrid peripheral nerve sheath tumor Hydatid disease Hydatidiform mole Hydatidiform mole, biparental recurrent form Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydranencephaly with abnormal genitalia Hydrargyria Hydroa vacciniforme Hydroa vacciniforme-like lymphoproliferative disorder Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Hydrocephalus with hop gait, abducens palsy and psychomotor retardation Hydrocephalus with obesity, hypogonadism, and retinal dystrophy Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue sclera-nephropathy syndrome Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-tall stature-joint laxity-kyphoscoliosis syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vascular anomaly Hydrolethalus syndrome 2 Hydrometrocolpos-polydactyly syndrome Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops Fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystem failure syndrome Hydroxyacyl-CoA dehydrogenase trifunctional protein deficiency Hydroxykynureninuria Hydroxymethylglutaric aciduria Hydroxymethylglutaryl-CoA lyase deficiency Hydroxysteroid dehydrogenase deficiency, isolated Hygroma colli Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome, autosomal recessive Hyper-IgM syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome type 6 Hyper-IgM syndrome type 7 Hyperalaninemia Hyperaldosteronism Hyperammonemia Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperargininemia due to arginase deficiency Hyperbilirubinemia due to Crigler-Najjar syndrome type 2 Hyperbilirubinemia due to Gilbert syndrome Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcaemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholanemia, familial Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HyperCKemia with myalgia HyperCKemia, idiopathic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercontractile muscle stiffness syndrome Hyperdibasic aminoaciduria Hyperekplexia with apnea Hyperekplexia, hereditary major form Hyperekplexia, hereditary minor form Hyperekplexia-epilepsy syndrome Hypereosinophilic obliterative bronchiolitis Hypereosinophilic syndrome with idiopathic eosinophilia Hyperexplexia due to glycine receptor deficiency Hyperferritinemia with cataract Hyperglycerolemia Hyperglycinuria Hyperglycinuria due to iminoglycinuria syndrome Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-hearing loss-ataxia syndrome Hypergonadotropic hypogonadism-retinitis pigmentosa syndrome Hypergonadotropic ovarian dysgenesis Hyperimidodipeptiduria Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycaemia Hyperinsulinism due to ABCC8 deficiency Hyperinsulinism due to AKT2 deficiency Hyperinsulinism due to CACNA1D deficiency Hyperinsulinism due to exercise-induced monocarboxylate transporter 1 expression Hyperinsulinism due to FOXA2 deficiency Hyperinsulinism due to GCK deficiency Hyperinsulinism due to GLUD1 deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HK1 deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to KCNJ11 deficiency Hyperinsulinism due to mitochondrial glutamate carrier deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to phosphoglucomutase 1 deficiency Hyperinsulinism due to PMM2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to TRMT10A deficiency Hyperinsulinism due to UCP2 anomaly Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism-hyperammonemia due to GLUD1 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkeratosis congenita Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans of Flegel Hyperkeratosis palmoplantaris striata varians Hyperkeratosis-hyperpigmentation syndrome Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermobile Ehlers-Danlos syndrome Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpigmentation of the skin Hyperprolinemia type 1 Hyperprolinemia type 2 Hypersarcosinemia Hypersensitivity pneumonitis Hypersensitivity vasculitis Hypertelorism-hypospadias syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertension due to gain-of-function mutations in MR Hyperthyroidism Hypertrichosis cubiti Hypertrichosis lanuginosa acquisita Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichosis-pigmentary retinopathy-facial anomalies syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy due to mitochondrial disease Hypertrophic cardiomyopathy with kidney anomalies and limb defects syndrome Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of Dejerine-Sottas Hypertrophic olivary degeneration Hypertrophic or verrucous lupus erythematosus Hypertrophic osteoarthropathy, primary Hypertrophic pyloric stenosis Hypertrophic spinal pachymeningitis Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure syndrome Hyperviscosity Syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retardation syndrome Hypoadrenalism Hypoalphalipoproteinemia Hypobetalipoproteinemia due to ANGPTL3 deficiency Hypobetalipoproteinemia-chylomicron retention disease syndrome Hypocalcemic seizures-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypocalciuric hypercalcemia, familial Hypochondrogenesis Hypocomplementemic urticarial vasculitis Hypocretin/orexin deficiency syndrome Hypodiploid ALL Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Hypogammaglobulinaemia Hypogammaglobulinemia due to CD21 deficiency Hypogammaglobulinemia due to CD81 deficiency Hypogammaglobulinemia due to FNIP1 deficiency Hypogammaglobulinemia due to LAT deficiency Hypogammaglobulinemia due to MSN deficiency Hypogammaglobulinemia due to TWEAK deficiency Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Hypogenetic lung syndrome Hypoglossia-hypodactylia syndrome Hypoglossia/aglossia Hypogonadism Hypogonadism-alopecia-diabetes mellitus-mental retardation syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-developmental delay syndrome Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypointestinal pseudoobstruction with facial dysmorphism syndrome Hypokalemic alkalosis with sensorineural deafness Hypokalemic alkalosis-hypomagnesemia syndrome Hypokalemic nephropathy Hypokalemic nephropathy with sensorineural deafness Hypokalemic periodic paralysis type 1 Hypokalemic periodic paralysis type 2 Hypokalemic periodic paralysis with central core disease Hypokalemic periodic paralysis with paramyotonia Hypokalemic periodic paralysis, atypical form Hypokalemic rickets Hypokalemic sensory overstimulation Hypokalemic tubulopathy with hearing loss Hypokeratosis of palms and soles Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy Hypomyelinating leukodystrophy due to FAM126A deficiency Hypomyelinating leukodystrophy due to HIKESHI deficiency Hypomyelinating leukodystrophy due to NKX6-2 deficiency Hypomyelinating leukodystrophy due to TMEM106B deficiency Hypomyelinating leukodystrophy with brain stem and spinal cord involvement Hypomyelinating leukodystrophy with or without oligodontia Hypomyelinating leukodystrophy with slowly progressive ataxia Hypomyelinating leukodystrophy-ataxia-hypodontia syndrome Hypomyelinating leukodystrophy-hypogonadotropic hypogonadism syndrome Hypomyelinating neuropathy with congenital glaucoma Hypomyelinating neuropathy-congenital cataract syndrome Hypomyelination and congenital cataract Hypomyelination with atrophy of the basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with cataract and developmental delay Hypomyelination with congenital spondylocostal dysostosis Hypomyelination with delayed myelination and vanishing white matter Hypomyelination with early cerebellar atrophy Hypomyelination with hypodontia and hypogonadotropic hypogonadism Hypomyelination with optic nerve atrophy and basal ganglia abnormalities Hypomyelination with severe intellectual disability and basal ganglia abnormalities Hypomyelination with vanishing white matter Hypomyelination, hypogonadotropic hypogonadism and hypodontia Hypomyelination-congenital cataract syndrome Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Hypoparathyroidism Hypoparathyroidism due to CASR gain-of-function mutation Hypoparathyroidism due to GCM2 deficiency Hypoparathyroidism due to GNA11 gain-of-function mutation Hypoparathyroidism due to PTH deficiency Hypoparathyroidism due to SOX3 duplication Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal dysplasia syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism due to TBCE deficiency Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability syndrome Hypophosphatasia Hypophosphatasia due to ALPL deficiency Hypophosphatasia, adult form Hypophosphatasia, childhood form Hypophosphatasia, infantile form Hypophosphatasia, odontohypophosphatasia form Hypophosphatasia, perinatal benign form Hypophosphatasia, perinatal lethal form Hypophosphatasia-seizures-intellectual disability syndrome Hypophosphatemic nephrolithiasis-osteoporosis syndrome Hypophosphatemic rickets with hypercalciuria Hypophosphatemic rickets with hyperparathyroidism Hypophosphatemic rickets with nephrocalcinosis Hypophosphatemic rickets with renal phosphate wasting Hypophosphatemic rickets, autosomal dominant Hypophosphatemic rickets, autosomal recessive Hypophosphatemic rickets, X-linked dominant Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation, organomegaly, and delayed myelination syndrome Hypopigmentation-deafness syndrome Hypopigmentation-immunodeficiency with or without neurologic defects syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism Hypopituitarism due to GLI2 deficiency Hypopituitarism due to HESX1 deficiency Hypopituitarism due to LHX3 deficiency Hypopituitarism due to LHX4 deficiency Hypopituitarism due to LHX4 mutation with Chiari malformation Hypopituitarism due to OTX2 deficiency Hypopituitarism due to POU1F1 deficiency Hypopituitarism due to PROP1 deficiency Hypopituitarism due to transcription factor defect Hypopituitarism with ectopic posterior pituitary and pituitary stalk interruption syndrome Hypoplasia of corpus callosum with microcephaly and coloboma Hypoplasia of the cerebellum with progressive microcephaly Hypoplasia of the inferior cerebellar vermis with psychomotor retardation Hypoplasia of the mitral valve annulus Hypoplasia of the optic nerve with endocrine abnormalities Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta and nephrocalcinosis Hypoplastic anemia due to ribosomal protein deficiency Hypoplastic anemia with myelofibrosis Hypoplastic anemia-retardation syndrome Hypoplastic bone marrow failure syndrome Hypoplastic corpus callosum-retinopathy syndrome Hypoplastic distal phalanges-hypoplastic nails syndrome Hypoplastic left heart complex Hypoplastic left heart syndrome Hypoplastic left heart syndrome with aortic atresia Hypoplastic left heart syndrome with intestinal malrotation Hypoplastic left heart syndrome with mitral atresia Hypoplastic left heart syndrome with mitral stenosis Hypoplastic left heart syndrome with restrictive atrial septum Hypoplastic left heart syndrome with splenic anomalies Hypoplastic myelodysplastic syndrome Hypoplastic myelodysplastic syndrome with fibrosis Hypoplastic or aplastic tibia with polydactyly Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic right heart syndrome Hypoplastic right ventricle with pulmonary atresia Hypoplastic thumbs and halluces with ocular anomalies Hypoplastic thumbs with distal phalangeal aplasia and short stature Hypoplastic thumbs-onychodystrophy-deafness syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tricuspid valve syndrome Hypoplastic tricuspid valve with pulmonary atresia Hypoplastic uterus and vagina syndrome Hypoplastic uterus with distal vaginal atresia Hypoplastic vitreoretinopathy Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyporegenerative anemia with mitochondrial dysfunction Hyporeninemic hypertension Hyporeninemic hypoaldosteronism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias with facial anomalies and intellectual disability Hypospadias with growth retardation syndrome Hypospadias, severe form Hypospadias-dysphagia syndrome Hypospadias-intellectual disability, Goldblatt type Hypospadias-mental retardation syndrome Hypospadias-microcephaly syndrome Hypospadias-retardation syndrome, Opitz type Hypospadias-short stature-intellectual disability syndrome Hypotelorism-cleft palate-hypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartoma with gelastic seizures Hypothyroidism Hypothyroidism due to deficient transcription factors Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Hypotonia and developmental delay with atrophy of the leg muscles Hypotonia and ichthyosis due to dolichol phosphate mannose synthase deficiency Hypotonia and intellectual disability syndrome due to UNC80 deficiency Hypotonia and psychomotor retardation with characteristic facies Hypotonia ataxia developmental delay syndrome Hypotonia developmental delay and characteristic facies syndrome Hypotonia infantile with psychomotor retardation and characteristic facies 1 Hypotonia infantile with psychomotor retardation and characteristic facies 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia infantile with psychomotor retardation and characteristic facies 4 Hypotonia infantile with psychomotor retardation and characteristic facies 5 Hypotonia infantile with psychomotor retardation and characteristic facies 6 Hypotonia infantile with psychomotor retardation and characteristic facies 7 Hypotonia with lactic acidemia and hyperammonemia Hypotonia, infantile, with psychomotor retardation and characteristic facies 10 Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 Hypotonia, infantile, with psychomotor retardation and characteristic facies 8 Hypotonia, infantile, with psychomotor retardation and characteristic facies 9 Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome Hypotonia-cerebellar atrophy-developmental delay syndrome Hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome due to 2p21 deletion Hypotonia-cystinuria type 1 syndrome Hypotonia-deafness syndrome Hypotonia-encephalopathy-seizure syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypotonia-hypogonadism-hypogenitalism-obesity-developmental delay syndrome Hypotonia-intellectual disability-behavioral abnormalities syndrome Hypotonia-intellectual disability-obesity syndrome Hypotonia-motor delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome due to CTBP1 deficiency Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy due to CDH3 deficiency Hypotrichosis with keratosis pilaris and alopecia Hypotrichosis with recurrent skin blistering Hypotrichosis with recurrent skin vesicles Hypotrichosis with woolly hair Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-juvenile macular degeneration syndrome Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defects syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-retinal degeneration juvenile macular dystrophy syndrome Hypotrichosis-skin lesions-acral blistering syndrome Hypouricemia with exercise-induced acute kidney injury Hypouricemia, renal Hypouricemia, renal, type 1 Hypouricemia, renal, type 2 Hypouricemic nephrolithiasis Hypouricemic nephropathy Hypoventilation due to congenital leptin receptor deficiency Hypoventilation syndrome due to congenital leptin deficiency Hypovitaminosis D rickets due to vitamin D receptor defect Hypoxic-ischemic encephalopathy Hyrtl anomaly Hystrix-like ichthyosis with deafness syndrome Hystrix-like ichthyosis-deafness syndrome due to GJB2 deficiency I-TGCV ICF syndrome ICF syndrome type 2 ICF syndrome type 3 ICF syndrome type 4 Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome Ichthyosis vulgaris Ichthyosis-spastic quadriplegia-mental retardation syndrome Idiopathic CD4 lymphocytopenia Idiopathic environmental intolerance Idiopathic generalized epilepsy Idiopathic Hyperprolactinaemia Idiopathic infantile arterial calcification Idiopathic ketotic hypoglycemia Idiopathic lymphocytopenia Idiopathic non-cirrhotic portal hypertension Idiopathic pleuroparenchymal fibroelastosis Idiopathic portal hypertension Idiopathic scoliosis Idiopathic short stature Idiopathic systemic capillary leak syndrome Idiopathic Thrombocytopenic Purpura Idiopathic ventricular tachycardia IgA glomerulonephritis IgA nephropathy IgA pemphigus IgA vasculitis IgG4-related disease IGHD IGHD type 1A IGHD type 1B IGHD type 2 IGHD type 3 IgM deficiency, selective IgM glomerulonephritis IgM nephropathy IL10 deficiency IL10 receptor deficiency IL12 receptor beta 1 deficiency IL21 receptor deficiency IL2RG deficiency IL6 receptor deficiency IL7 receptor deficiency Imerslund-Gräsbeck syndrome Immune complex mediated vasculitis Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune hydrops fetalis Immune thrombocytopenia, chronic Immune-mediated acquired neuromuscular junction disease Immune-mediated cerebellar ataxia Immune-mediated necrotizing myopathy Immune-mediated scleritis Immune-mediated thrombotic thrombocytopenic purpura Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to ADA deficiency Immunodeficiency due to AK2 deficiency Immunodeficiency due to CARD11 deficiency Immunodeficiency due to CARD9 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to CD40 deficiency Immunodeficiency due to CD40 ligand deficiency Immunodeficiency due to DOCK8 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to GATA2 deficiency Immunodeficiency due to IKZF1 deficiency Immunodeficiency due to IL2RB deficiency Immunodeficiency due to IRF8 deficiency Immunodeficiency due to JAK3 deficiency Immunodeficiency due to LCK deficiency Immunodeficiency due to MALT1 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to NEMO deficiency Immunodeficiency due to ORAI1 deficiency Immunodeficiency due to PIK3CD mutation Immunodeficiency due to PIK3R1 mutation Immunodeficiency due to PNP deficiency Immunodeficiency due to RAG1 deficiency Immunodeficiency due to RAG2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to STAT1 gain-of-function mutation Immunodeficiency due to STAT3 mutation Immunodeficiency due to STIM1 deficiency Immunodeficiency due to TCF3 deficiency Immunodeficiency due to TYK2 deficiency Immunodeficiency due to ZAP70 deficiency Immunodeficiency with antibody deficiency and autoimmunity Immunodeficiency with combined B and T cell defect Immunodeficiency with DNA repair defect Immunodeficiency with factor I anomaly Immunodeficiency with hyper IgE and recurrent infections Immunodeficiency with hyper IgM due to AICDA deficiency Immunodeficiency with hyper IgM due to UNG deficiency Immunodeficiency with hyper IgM, X-linked Immunodeficiency with hypopigmentation and neurologic abnormalities Immunodeficiency with immune dysregulation due to FOXP3 deficiency Immunodeficiency with lymphopenia due to CD3 deficiency Immunodeficiency with lymphopenia due to CD45 deficiency Immunodeficiency with lymphopenia due to CORO1A deficiency Immunodeficiency with lymphopenia due to MST1 deficiency Immunodeficiency with lymphopenia due to PTPRC deficiency Immunodeficiency with lymphopenia due to RAC2 deficiency Immunodeficiency with lymphopenia due to TTC7A deficiency Immunodeficiency with lymphoproliferation and autoimmunity Immunodeficiency with multiple intestinal atresias Immunodeficiency with susceptibility to EBV infection Immunodeficiency with susceptibility to fungal infections Immunodeficiency with susceptibility to herpes simplex virus infection Immunodeficiency with susceptibility to HPV infection Immunodeficiency with susceptibility to mycobacterial disease Immunodeficiency with susceptibility to viral infections Immunodeficiency with thymoma Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-epilepsy syndrome Immunodeficiency-intellectual disability syndrome Immunodeficiency-microcephaly syndrome Immunodeficiency-short stature-facial dysmorphism syndrome Immunotherapy induced hypophysitis Imperforate oropharynx-costovertebral anomalies syndrome Imprinting disorders Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Incomplete septal cirrhosis Indeterminate cell histiocytosis Indolent B-cell non-Hodgkin lymphoma Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indomethacin embryofetopathy Infant botulism Infantile apnea Infantile bilateral striatal necrosis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome Infantile CLN1 disease Infantile CLN2 disease Infantile convulsions and choreoathetosis Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile epileptic spasms syndrome Infantile epileptic-dyskinetic encephalopathy Infantile esotropia Infantile facioscapulohumeral muscular dystrophy Infantile free sialic acid storage disease Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis Infantile hemangioma Infantile hepatocerebral mitochondrial DNA depletion syndrome Infantile hypophosphatasia Infantile hypotonia with psychomotor retardation Infantile idiopathic scoliosis Infantile Krabbe disease Infantile liver failure syndrome type 1 Infantile liver failure syndrome type 2 Infantile liver failure syndrome type 3 Infantile liver failure syndrome type 4 Infantile liver failure syndrome type 5 Infantile liver failure syndrome type 6 Infantile malignant osteopetrosis Infantile neuroaxonal dystrophy Infantile onset ascending hereditary spastic paralysis Infantile onset epileptic encephalopathy Infantile onset sialidosis Infantile onset spinal muscular atrophy with respiratory distress Infantile onset spinocerebellar ataxia Infantile spasms syndrome Infantile spondylocostal dysostosis Infantile systemic hyalinosis Infantile systemic lupus erythematosus Infantile tremor syndrome Infantile unilateral striatal necrosis Infantile visceral leishmaniasis Infantile-onset inflammatory bowel disease Infantile-onset multisystem neurologic endocrine pancreatic disease Infantile-onset spinocerebellar degeneration Infantile-onset X-linked spinal muscular atrophy Infectious aortitis Infectious crystalline keratopathy Infectious scleritis Infective Endocarditis Infective myocarditis Inferior Vena-caval Obstruction Inflammatory aortic aneurysm Inflammatory Bowel Disease Inflammatory bowel disease associated with immunodeficiency Inflammatory bowel disease due to IL10 deficiency Inflammatory bowel disease due to IL10 receptor deficiency Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory pseudotumor of kidney Inflammatory pseudotumor of liver Inflammatory pseudotumor of lung Inflammatory pseudotumor of orbit Inflammatory pseudotumor of spleen Inflammatory/autoimmune disorder involving the lacrimal system Infundibulo-neurohypophysitis Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing lymphoproliferative syndrome Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited digestive cancer-predisposing syndrome Inherited epidermodysplasia verruciformis Inherited epidermolysis bullosa Inherited gynecological cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome Inherited human prion disease Inherited ichthyosis Inherited ichthyosis syndromic form Inherited isolated adrenal insufficiency due to STAR deficiency Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, biventricular form Inherited isolated arrhythmogenic cardiomyopathy, left dominant form Inherited isolated arrhythmogenic ventricular cardiomyopathy Inherited nervous system cancer-predisposing syndrome Inherited renal cancer-predisposing syndrome Inherited retinal disorder Inherited zinc deficiency Iniencephaly Inoculation botulism INPP5K-related syndrome Insulin autoimmune syndrome Insulin Resistance Insulin-resistance syndrome type A Insulin-resistance syndrome type B Int22h1/Int22h2 mediated-Xq28 microduplication syndrome Integrinopathy Intellectual disability associated with fragile site FRAXE Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability, Buenos-Aires type Intellectual disability, Mietens-Weber type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome Intellectual disability-craniofacial dysmorphism-cardiac defect syndrome Intellectual disability-craniofacial dysmorphism-short stature syndrome Intellectual disability-craniofacial dysmorphism-skeletal anomalies syndrome Intellectual disability-epilepsy-movement disorder syndrome Intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Intellectual disability-facial dysmorphism-skeletal anomalies syndrome Intellectual disability-hearing loss syndrome Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intellectual disability-macrocephaly syndrome Intellectual disability-microcephaly syndrome Intellectual disability-motor delay syndrome Intellectual disability-myopathy syndrome Intellectual disability-ocular anomalies syndrome Intellectual disability-spasticity syndrome Interatrial communication Intercostal nerve syndrome Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate atrioventricular septal defect Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate Charcot-Marie-Tooth disease Intermediate collagen VI-related muscular dystrophy Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate generalized junctional epidermolysis bullosa Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate uveitis Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent Claudication Intermittent hydrarthrosis Intermittent maple syrup urine disease Internal carotid absence Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interstitial lung disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to NKX2-1 mutation Interstitial lung disease due to surfactant protein B deficiency Interstitial lung disease due to surfactant protein C deficiency Interstitial pneumonia with autoimmune features Interstitial pulmonary fibrosis associated with telomerase defect Intervertebral Disc Rupture Intestinal duplication Intestinal epithelial dysplasia Intestinal epithelial dysplasia, syndromic form Intestinal failure Intestinal lymphangiectasia Intestinal malrotation Intestinal neuronal dysplasia Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intestinal pseudo-obstruction Intestinal pseudo-obstruction, chronic idiopathic Intestinal pseudo-obstruction, familial visceral myopathy type Intestinal pseudo-obstruction, familial visceral neuropathy type Intestinal vascular malformation Intracranial aneurysm, familial Intracranial calcification syndrome Intracranial germinoma Intracranial hypertension, idiopathic Intracranial lipoma Intracranial meningioma, familial Intracranial teratoma Intrauterine Growth Restriction Intrinsic factor deficiency Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease Isochromosome Y syndrome Isochromosomy Yp syndrome Isochromosomy Yq syndrome Isolated absence of both forearm and hand Isolated absence of both lower leg and foot Isolated absence of thigh and lower leg with foot present Isolated absence of upper arm and forearm with hand present Isolated absence/hypoplasia of fingers excluding thumb, unilateral Isolated acheiria Isolated acheiropodia Isolated adrenal medullary hyperplasia Isolated agenesis of gallbladder Isolated amelia of lower limb Isolated amelia of upper limb Isolated amyelia Isolated anal canal duplication Isolated angioid streaks Isolated ankyloblepharon filiforme adnatum Isolated anogenital granulomatosis Isolated anterior cervical hypertrichosis Isolated apodia Isolated arhinencephaly Isolated arrhinia Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated atrial septal defect Isolated atrioventricular block, congenital Isolated basilar invagination Isolated bilateral renal agenesis Isolated brachydactyly type A1 Isolated brachydactyly type A2 Isolated brachydactyly type A3 Isolated brachydactyly type B Isolated brachydactyly type C Isolated brachydactyly type D Isolated brachydactyly type E Isolated bronchogenic cyst Isolated congenital diaphragmatic hernia Isolated congenital ptosis Isolated congenital pulmonary airway malformation Isolated congenital tracheal stenosis Isolated coronal craniosynostosis Isolated craniosynostosis Isolated ectopia lentis Isolated familial exudative vitreoretinopathy Isolated generalized epilepsy Isolated hemihyperplasia Isolated hypogonadotropic hypogonadism Isolated lateral meningocele Isolated left bronchial isomerism Isolated left pulmonary artery sling Isolated left ventricular noncompaction Isolated levocardia Isolated lissencephaly type 1 without known genetic defects Isolated lower lip fistula Isolated lower lip pits Isolated macular dystrophy Isolated median cleft face syndrome Isolated megalencephaly Isolated megalopapilla Isolated melanocytic schwannoma Isolated melanotic schwannoma Isolated mesenteric lipodystrophy Isolated mesenteric vein thrombosis Isolated metopic and sagittal craniosynostosis Isolated metopic craniosynostosis Isolated micronodular adrenocortical disease Isolated microspherophakia Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated multicystic dysplastic kidney Isolated nail clubbing Isolated nephrogenic diabetes insipidus Isolated neural tube defect Isolated neuronal ceroid lipofuscinosis Isolated noncompaction cardiomyopathy Isolated oligodontia Isolated osteogenesis imperfecta Isolated partial atrioventricular septal defect Isolated patent ductus arteriosus Isolated Pierre Robin sequence with developmental delay Isolated pituitary hormone deficiency Isolated posterior cervical hypertrichosis Isolated postnatal microcephaly Isolated primary microcephaly Isolated pulmonary artery of ductal origin Isolated pulmonary capillaritis Isolated pulmonary valve stenosis Isolated pyramidal syndrome Isolated radial ray defect Isolated renal magnesium wasting Isolated rhombencephalosynapsis Isolated right atrial isomerism Isolated right ventricular hypoplasia Isolated sagittal craniosynostosis Isolated sedoheptulokinase deficiency Isolated segmental infantile hemangioma Isolated small intestine duplication Isolated splenic vein thrombosis Isolated splenogonadal fusion Isolated split hand-split foot malformation Isolated spontaneous cervical artery dissection Isolated stationary inherited retinal disorder Isolated sternocostoclavicular hyperostosis Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated tetra-amelia Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated tibial hemimelia Isolated tibio-fibular synostosis Isolated total cerebellar vermis agenesis Isolated tracheoesophageal fistula Isolated transitional filum lipoma Isolated tubular duplication of the esophagus Isolated ulnar hemimelia Isolated unilateral hemispheric cerebellar hypoplasia Isolated unisquamosal craniosynostosis Isolated unisutural craniosynostosis Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isolated vitreoretinopathy Isomerism of left atrial appendage Isosporiasis Isotretinoin syndrome Isotretinoin-like syndrome ISPD-related limb-girdle muscular dystrophy R20 ISSD ITK deficiency ITM2B amyloidosis ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ITPN IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr Syndrome Jackson-Weiss Syndrome Jaffe-Campanacci Syndrome Jaffe-Lichtenstein Disease Jagell-Holmgren-Hofer Syndrome Jamaican Vomiting Sickness Jancar Syndrome Jankovic-Rivera Syndrome Jansen-de Vries Syndrome Jaw-Winking Syndrome Jawad Syndrome Jeavons Syndrome Jejunal Atresia Microcephaly Ocular Anomalies Syndrome Jessner Lymphocytic Infiltration of the Skin Johnson Neuroectodermal Syndrome Johnson Syndrome Johnson-McMillin Syndrome Johnson-Munson Syndrome Johnston-Aarons-Schelley Syndrome Joint Instability Syndrome Jones Syndrome Joubert Syndrome with Ocular Defect Joubert Syndrome with Renal Defect Joubert Syndrome with Retinopathy Juberg-Hayward Syndrome Junctional Ectopic Tachycardia Junctional Epidermolysis Bullosa, Disentis Type Junctional Epidermolysis Bullosa, Herlitz Type Junctional Epidermolysis Bullosa, non-Herlitz Localized Type Jung Syndrome Junin Hemorrhagic Fever Jussieu Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Aponeurotic Fibromatosis Juvenile Bone Cyst Juvenile Canavan Disease Juvenile Cataract Microcornea Renal Glucosuria Syndrome Juvenile Charcot Disease Juvenile CLN Disease Juvenile Dermatomyositis Juvenile Elastoma without Osteopoikilosis Juvenile Enthesitis-Related Arthritis Juvenile Gastrointestinal Polyposis Juvenile Glaucoma Juvenile GM1 Gangliosidosis Juvenile Hemochromatosis Juvenile Hyaline Fibromatosis Juvenile Idiopathic Inflammatory Myopathy Juvenile Inflammatory Arthritis Juvenile Intestinal Polyposis Juvenile Lou Gehrig Disease Juvenile Muscular Atrophy of the Distal Upper Limb Juvenile Myasthenia Gravis Juvenile Nasopharyngeal Angiofibroma Juvenile Nephronophthisis Juvenile Nephropathic Cystinosis Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Osteoporosis Juvenile Overlap Myositis Juvenile Paget Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Juvenile Periodontitis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis of Infancy Juvenile Polyposis Syndrome Juvenile Primary Lateral Sclerosis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juvenile-onset Diabetes Mellitus Central and Peripheral Neurodegeneration Syndrome Juvenile-onset Multiple Carboxylase Deficiency Juvenile-onset Myotonic Dystrophy Type 1 Juvenile-onset Steinert Disease Juvenile-onset Vitelliform Macular Dystrophy Juxtaposition of the Atrial Appendages K+-aggravated myotonia Kabuki Syndrome Kaeser syndrome Kagami-Ogata syndrome Kaler-Garrity-Stern syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karsch-Neugebauer syndrome Karyomegalic interstitial nephritis Kasabach-Merritt phenomenon KAT5-related neurodevelopmental disorder KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome KAT6A syndrome KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome Kaya-Barakat-Masson syndrome Kaya-Prontera syndrome KBG syndrome KCNE1-related isolated congenital long QT syndrome KCNE2-related isolated congenital long QT syndrome KCNH2-related isolated congenital long QT syndrome KCNK9 imprinting syndrome KCNQ1-related isolated congenital long QT syndrome KCNQ2-related developmental and epileptic encephalopathy KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM5C-related syndromic X-linked intellectual disability Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Paterson syndrome Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratinopathic ichthyosis Keratitis fugax hereditaria Keratitis-ichthyosis-deafness syndrome Keratoconjunctivitis Sicca Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratoendotheliitis fugax hereditaria Keratolytic winter erythema Keratomycosis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris varians of Wachters Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantaris-esophageal syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis pilaris atrophicans Kerion celsi Kernicterus Kernicterus spectrum disorder Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Kidney dysplasia Kidney dysplasia, bilateral Kidney dysplasia, unilateral Kidney tubulopathy-dilated cardiomyopathy syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kilquist syndrome Kimura disease Kindler epidermolysis bullosa Kindler syndrome Kinetic abnormalities of the acetylcholine receptor King-Denborough syndrome Kinsbourne syndrome Kjellin syndrome carcinoma syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Crisponi/cold induced sweating-like syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klinefelter Syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil Syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome KMT2B-related dystonia KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT5B haploinsufficiency neurodevelopmental disorder Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohler disease Kohlschütter-Tönz syndrome Kok disease Kommerell diverticulum Komuragaeri disease Koolen-De Vries syndrome Kopysc-Barczyk-Krol syndrome Kosaki overgrowth syndrome Kosenow syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krasnow-Qazi syndrome Krause-Kivlin syndrome Krebs cycle disorder Kreiborg-Pakistani syndrome KRT1-related diffuse NEPPK KRT1-related diffuse nonepidermolytic keratoderma Kufor-Rakeb syndrome Kufs disease type B Kugelberg-Welander disease Kunze-Riehm syndrome Kuru Kuskokwim syndrome Kuzniecky syndrome Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome Kyphosis-lateral tongue atrophy myofibrillar myopathy syndrome Küttner tumor Köhlmeier-Degos disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-ferritin deficiency L-glyceric aciduria L1 syndrome La Crosse encephalitis Laband syndrome Labrune syndrome Lacrimal drainage system anomaly Lacrimal drainage system anomaly of genetic origin Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LADD syndrome Ladda-Zonana-Ramer syndrome Laing distal myopathy LAMA2-related muscular dystrophy LAMA5-related multisystemic syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related late-onset muscular dystrophy Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Laminopathy Laminopathy with lipodystrophy Laminopathy with peripheral neuropathy Laminopathy with premature aging Laminopathy with striated muscle involvement LAMM syndrome Landau-Kleffner syndrome Landing disease Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans Cell Histiocytosis Langerhans cell sarcoma Laparoschisis LARD syndrome Large cell lymphoma of the mediastinum Large granular lymphocyte leukemia Large segmental hemangioma Large/giant congenital melanocytic nevus Laron syndrome with immunodeficiency Laron-like syndrome Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx anomaly Larynx atresia Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile neuronal ceroid lipofuscinosis type 1 Late infantile neuronal ceroid lipofuscinosis type 10 Late infantile neuronal ceroid lipofuscinosis type 2 Late infantile neuronal ceroid lipofuscinosis type 5 Late infantile neuronal ceroid lipofuscinosis type 6 Late infantile neuronal ceroid lipofuscinosis type 8 Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset brain arteriovenous fistula Late-onset citrullinemia type 1 Late-onset combined immunodeficiency due to ICOS deficiency Late-onset combined immunodeficiency due to ICOSL deficiency Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset familial encephalopathy with neuroserpin inclusion bodies Late-onset familial hyperreninemic hypoaldosteronism Late-onset familial hypoaldosteronism Late-onset focal dermal elastosis Late-onset idiopathic chronic pancreatitis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset myotonic dystrophy type 1 Late-onset nephronophthisis Late-onset Pompe disease Late-onset primary lymphedema without systemic or visceral involvement Late-onset retinal degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset spinal arteriovenous fistula Late-onset spinal motor neuronopathy Late-onset SPMD with hyaline bodies Late-onset Tay-Sachs disease Lateral facial cleft Lateral meningocele syndrome Lathosterolosis Lattice corneal dystrophy type 1 Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome Lead poisoning Learman syndrome Leber miliary aneurysm Leber optic atrophy Leber plus disease Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left atrial isomerism Left Atrial Isomerism Left bronchial isomerism without heterotaxy Left coronary artery from right aortic sinus Left isomerism Left renal vein entrapment syndrome Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac Saint-Jean type Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminata Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome LEMD2-associated nuclear envelopathy with early progeroid appearance Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens position anomaly Lens position anomaly of genetic origin Lens shape anomaly Lens size anomaly Lens size anomaly of genetic origin Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia syndrome Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprosy Leprosy Leptomeningeal melanomatosis Leri pleonosteosis Léri-Weill dyschondrosteosis Lethal 1p36.33 deletion syndrome Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects Lethal chondrodysplasia Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal faciocardiomelic dysplasia Lethal fetal brain malformation duodenal atresia-bilateral renal hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis-hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephaly diaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal hyperkeratosis-contracture syndrome Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal midline granuloma Lethal multiple congenital anomalies-dysmorphic syndrome Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal polymalformative syndrome, Boissel type Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia pulmonary hypoplasia syndrome Lethal tight skin-contracture syndrome Letrozole toxicity Leucoplakia - Oral / Hairy Leukaemia Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy Leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy with oligodontia Leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levocardia Levocardia with situs inversus Levy-Hollister syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LGMD D5 collagen VI-related dystrophy LGMD R22 collagen VI-related dystrophy Lhermitte-Duclos disease Li-Fraumeni syndrome Liang-Wang syndrome Liberfarb syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen myxedematosus Lichen planopilaris Lichen planus Lichen planus pemphigoides Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Limb body wall complex Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 2X Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to BVES deficiency Limb-girdle muscular dystrophy due to BVES deficiency (BVES-related LGMD) Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2B Limb-girdle muscular dystrophy type 2C Limb-girdle muscular dystrophy type 2D Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2G Limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy type 2M Limb-girdle muscular dystrophy type 2N Limb-girdle muscular dystrophy type 2O Limb-girdle muscular dystrophy type 2P Limb-girdle muscular dystrophy type 2Q Limb-girdle muscular dystrophy type 2S Limb-girdle muscular dystrophy type 2T Limb-girdle muscular dystrophy type 2U Limb-girdle muscular dystrophy type 2X Limb-girdle muscular dystrophy type 2Y Limb-girdle muscular dystrophy type 2Z Limb-girdle muscular dystrophy type D4 Limb-girdle muscular dystrophy type R23 Limb-girdle muscular dystrophy type R24 Limb-girdle muscular dystrophy type R28 Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophy-intellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis Limbic encephalitis-neuromyotonia syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Limit dextrinosis Limited cutaneous systemic sclerosis Limited dorsal myeloschisis Lindau disease Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear IgA dermatosis Linear lichen planus Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy Lipid storage disease Lipid storage myopathy Lipoamide dehydrogenase deficiency Lipoate biosynthesis defect Lipoatrophia semicircularis Lipoatrophy caused by injected drug Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid Nephrosis Lipoid Proteinosis Lipoid proteinosis Lipoma of the filum terminale Lipomatosis dolorosa Lipomatous flat limited dorsal myeloschisis Lipomatous mesenteritis Lipomatous non-saccular limited dorsal myeloschisis Lipomucopolysaccharidosis Lipoprotein deficiency Lipoprotein glomerulopathy Lipoprotein lipase deficiency Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisch nodules Lisch syndrome Lisker-Garcia-Ramos syndrome Lison syndrome Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, Norman Roberts type Lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 Lissencephaly type 2 with muscular and ocular involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Littoral cell angioma of the spleen Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis with summer ulcerations Livedo reticularis-cerebrovascular accident syndrome Livedo-like dermatitis Livedoid vasculopathy Liver Abscess Liver adenomatosis Liver cirrhosis due to metabolic disease Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Liver Failure Liver fibrosis Liver fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Liver glycogen phosphorylase deficiency LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy Lobar holoprosencephaly Lobstein disease LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa, acral form Localized dystrophic epidermolysis bullosa, nails only Localized dystrophic epidermolysis bullosa, pretibial form Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized intravascular coagulation Localized junctional epidermolysis bullosa Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lipodystrophy Localized pagetoid reticulosis Localized pleural mesothelioma Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Loiasis Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Long QT syndrome type 5 Long QT syndrome type 6 Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Loricrin keratoderma Lou Gehrig disease Loucks-Innes syndrome Louis-Bar syndrome Low oxygen affinity alpha chain hemoglobin disease Low oxygen affinity beta chain hemoglobin disease Low oxygen affinity gamma chain hemoglobin disease Low oxygen affinity hemoglobin disease Low phospholipid-associated cholelithiasis Low resistance capillary malformation Low-flow priapism Low-flow vascular malformation of the bone Low-grade appendiceal mucinous neoplasm Low-grade astrocytoma Low-grade neuroendocrine tumor of the corpus uteri Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe-Kohn-Cohen syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower limb hypertrophy Lower limb malformation hypospadias syndrome Lower motor neuron syndrome with late-adult onset Lower urinary tract obstruction Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LQTS type 8 LRP5-related primary osteoporosis LTC4 synthase deficiency Lubag disease Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lucey-Driscoll syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung Carcinoma Lung fibrosis immunodeficiency-46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Luscan-Lumish syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Lyell syndrome Lyme borreliosis Lymphangioma Lymphatic filariasis Lymphatic-venous malformation Lymphedema with yellow nails Lymphedema-atrial septal defects-facial changes syndrome Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome Lymphedema-lymphangiectasia intellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic mastitis Lymphocytic mastopathy Lymphocytic variant HES Lymphoepithelial cyst of the pancreas Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid eosinophilic syndrome Lymphoid hemopathy Lymphoid HES Lymphoid interstitial pneumonia Lymphoma Lymphoma Lymphoma Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lymphoproliferative disease associated with primary immune disease Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome Lysine alpha-ketoglutarate reductase deficiency Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal alpha-D-mannosidase deficiency, juvenile form Lysosomal disease Lysosomal disease with epilepsy Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy Lysosomal glycogen storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal involvement Lysosomal storage disorder due to saposin B deficiency Lysozyme amyloidosis Lysyl hydroxylase-deficient EDS Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-congenital heart disease-facial dysmorphism syndrome Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular noncompaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADA MADaM MADD MADD, mild type MADD, severe neonatal type MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome Maffucci syndrome with spindle cell hemangiomas MAGIC syndrome Magnesium transporter defect-intellectual disability syndrome Magnetic gait disorder Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major congenital anomaly syndrome, multiple Major depressive disorder, familial early-onset type Major histocompatibility complex class I deficiency Major histocompatibility complex class II deficiency Major omphalocele Makrydimas syndrome Mal de débarquement Mal de Meleda Malabsorption Malakoplakia Malan overgrowth syndrome Malaria, congenital Malaria, severe complicated type Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to chromosome Y microdeletion Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Malformation of the anal canal and the rectum Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the esophagus Malformation of the intestine Malformation of the neurenteric canal, spinal cord and column Malformation of the stomach and the duodenum Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant blue nevus Malignant carcinoid syndrome Malignant chondroid syringoma Malignant cutaneous adnexal tumor, unspecified Malignant cylindroma Malignant eccrine poroma Malignant eccrine spiradenoma Malignant epithelial tumor of ovary Malignant epithelial tumor of pancreas Malignant epithelial tumor of stomach Malignant germ cell tumor of ovary Malignant germ cell tumor of testis Malignant glomus tumor Malignant granular cell tumor Malignant hidradenoma Malignant mesenchymal tumor of bladder Malignant mesenchymal tumor of uterus Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor Malignant myoepithelioma Malignant nodular hidradenoma Malignant odontogenic tumor Malignant ossifying fibromyxoid tumor Malignant otitis externa Malignant ovarian stromal tumor Malignant PEComa Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant perivascular epithelioid cell tumor Malignant pertussis Malignant pilomatricoma Malignant pleural tumor, rare type Malignant proliferating trichilemmal tumor Malignant renal epithelial tumor Malignant rhabdoid tumor Malignant rhabdoid tumor of kidney Malignant rhabdoid tumor of liver Malignant rhabdoid tumor of soft tissue Malignant smooth muscle tumor Malignant spiradenoma Malignant stromal tumor of gastrointestinal tract Malignant trichoblastoma Malignant triton tumor Malignant tumor of adrenal cortex Malignant tumor of bile duct Malignant tumor of bone, rare type Malignant tumor of brain, rare type Malignant tumor of gallbladder Malignant tumor of larynx, rare type Malignant tumor of liver, rare type Malignant tumor of lung, rare type Malignant tumor of nasal cavity Malignant tumor of pancreas, rare type Malignant tumor of paranasal sinus Malignant tumor of skin, rare type Malignant tumor of small intestine Malignant tumor of spleen Malignant tumor of thymus Malignant tumor of thyroid gland, rare type Malignant tumor of trachea Malignant tumor of ureter Malignant tumor of urethra Malignant tumor of vulva, rare type Malignant vascular tumor, rare type Mandibulo-palpebral synkinesisptosis syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, GuionAlmeida type Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosidase alpha class 2B member 2-congenital disorder of glycosylation Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle zone lymphoma MAP Map-dot-fingerprint dystrophy Marbach-Rustad progeroid syndrome Marbach-Schaaf neurodevelopmental syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan Syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome Marfanoid habitus-inguinal herniaadvanced bone age syndrome Marfanoid syndrome, De Silva type Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome type 2 Maroteaux type acromesomelic dysplasia Maroteaux-Lamy-like syndrome Maroteaux-type spondyloepimetaphyseal dysplasia Marrow hypoplasia with immunodeficiency syndrome Marshall syndrome Marshall-Smith syndrome Martinez-Frias syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastitis Mastocytoma Mastocytosis, systemic with associated hematologic neoplasm Mastocytosis, diffuse cutaneous Mastocytosis, indolent systemic Mastocytosis, smoldering systemic Mastocytosis, systemic aggressive type Mastocytosis-associated hematologic neoplasm Maternal uniparental disomy 14 syndrome Maternal uniparental disomy 15 syndrome Maternal uniparental disomy 20 syndrome Maternal uniparental disomy 7 syndrome Mathieu-De Broca-Bony syndrome Matthews syndrome May-Hegglin anomaly May-Hegglin anomaly variant May-Hegglin anomaly with Döhlelike bodies Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MBD5-associated neurodevelopmental disorder McArdle disease McArdle disease, late-onset form McArdle disease, severe infantile form McCune-Albright-like syndrome McDonough syndrome McKusick type metaphyseal chondrodysplasia McLeod neuroacanthocytosis syndrome McLeod syndrome with cardiomyopathy McLeod syndrome with cardiomyopathy and arrhythmia McLeod syndrome with hematologic and neurologic features McLeod syndrome with hematological abnormalities McLeod syndrome with multisystem involvement McLeod syndrome with neurodegeneration McLeod syndrome with neuropsychiatric features McLeod syndrome with progressive neurodegeneration McLeod syndrome McLeod syndrome with ataxia McLeod syndrome with autonomic dysfunction McLeod syndrome with behavioral disorder McLeod syndrome with cardiac involvement McLeod syndrome with chorea McLeod syndrome with cognitive impairment McLeod syndrome with dysarthria McLeod syndrome with dysphagia McLeod syndrome with dystonia McLeod syndrome with early-onset presentation McLeod syndrome with elevated creatine kinase McLeod syndrome with extrapyramidal features McLeod syndrome with hemolytic anemia McLeod syndrome with incomplete penetrance McLeod syndrome with late-onset presentation McLeod syndrome with movement disorder McLeod syndrome with muscle weakness McLeod syndrome with muscular involvement McLeod syndrome with myopathy McLeod syndrome with peripheral blood abnormalities McLeod syndrome with peripheral neuropathy McLeod syndrome with psychiatric and neurological features McLeod syndrome with psychiatric manifestations McLeod syndrome with seizures McLeod syndrome with spasticity McLeod syndrome with tremor McLeod syndrome with variable expressivity McLeod syndrome, atypical form McLeod syndrome, X-linked Meckel-like syndrome Meckel-like syndrome type 1 Meckel-like syndrome type 2 Meckel-like syndrome type 3 Meckel-like syndrome type 4 Meckel-like syndrome type 5 Meckel-like syndrome type 6 Meckel-like syndrome type 7 Meckel-like syndrome type 8 Meckel-like syndrome type 9 Meconium ileus Meconium ileus equivalent Meconium peritonitis Medial tibial stress syndrome Median arcuate ligament syndrome Median cleft lip Median cleft mandible Median facial cleft syndrome Median nail dystrophy Median raphe cyst Mediastinal non-seminomatous germ cell tumor Mediastinal Fibrosis Mediastinal germ cell tumor Mediastinal Granuloma Mediastinal seminoma Mediastinitis, chronic fibrosing type Medulloblastoma, rare subtype Meesmann corneal dystrophy Meester-Loeys syndrome MEF2C-related syndrome Mega-cisterna magna Megacalycosis Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemiaimmunodeficiency due to folate transporter 1 deficiency Megaloblastic Anaemia Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Megaoesophagus Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome MEI Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome MEITL Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of choroid Melanoma of soft tissue Melanoma of uvea Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS syndrome with lactic acidosis MELAS syndrome with ocular involvement MELAS syndrome with renal involvement MELAS syndrome with gastrointestinal involvement MELAS syndrome with multisystem involvement MELAS syndrome with cardiomyopathy MELAS syndrome with cardiomyopathy and arrhythmia MELAS syndrome with diabetes MELAS syndrome with endocrine dysfunction MELAS syndrome with epilepsy MELAS syndrome with hearing loss MELAS syndrome with movement disorder MELAS syndrome with myopathy MELAS syndrome with neuropathy MELAS syndrome with progressive neurodegeneration MELAS syndrome with psychiatric manifestations MELAS syndrome with stroke-like episodes MELAS syndrome, atypical form MELAS syndrome, childhood-onset type MELAS syndrome, late-onset type MELAS syndrome, maternally inherited form MELAS-like syndrome Meleda disease Melhem-Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melphalan-induced pulmonary toxicity Melphalan-related acute myeloid leukemia Melphalan-related myelodysplastic syndrome Membranoproliferative glomerulonephritis Membranous aplasia cutis congenita Membranous nephropathy, idiopathic Membranous nephropathy, secondary Membranous cataract Membranous glomerulonephritis Mendelian susceptibility to mycobacterial disease, IL-12 p40 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?1 deficiency Mendelian susceptibility to mycobacterial disease, IRF8 deficiency Mendelian susceptibility to mycobacterial disease, ISG15 deficiency Mendelian susceptibility to mycobacterial disease, NEMO deficiency Mendelian susceptibility to mycobacterial disease, STAT1 deficiency Mendelian susceptibility to mycobacterial disease, autosomal dominant form Mendelian susceptibility to mycobacterial disease, autosomal recessive form Mendelian susceptibility to mycobacterial disease, complete IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, IFN-? pathway defect, unspecified Mendelian susceptibility to mycobacterial disease, IFN-gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?2 deficiency Mendelian susceptibility to mycobacterial disease, JAK1 deficiency Mendelian susceptibility to mycobacterial disease, JAK2 deficiency Mendelian susceptibility to mycobacterial disease, partial IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, ROR?T deficiency Mendelian susceptibility to mycobacterial disease, SPPL2A deficiency Mendelian susceptibility to mycobacterial disease, TYK2 deficiency Mendelian susceptibility to mycobacterial disease, X-linked form Mendelian susceptibility to mycobacterial infections Ménétrier disease Mengel-Konigsmark syndrome Meniere's Disease Meningeal Haemorrhage Meningeal melanocytoma Meningioma Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menke-Hennekam syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERS Mesangiocapillary glomerulonephritis Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenchymal hamartoma of liver Mesenteric Adenitis Mesenteric lipogranuloma Mesenteric panniculitis Mesenteric Vein Thrombosis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, KozlowskiReardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma of the tunica vaginalis Mesulam syndrome Metabolic myopathy due to carnitine palmitoyltransferase I deficiency Metabolic myopathy due to carnitine palmitoyltransferase II deficiency Metabolic myopathy due to coenzyme Q10 deficiency Metabolic myopathy due to glycerol kinase deficiency Metabolic myopathy due to mitochondrial trifunctional protein deficiency Metabolic myopathy due to mitochondrial DNA depletion syndrome Metabolic myopathy due to mitochondrial respiratory chain defect Metabolic myopathy due to multiple acyl-CoA dehydrogenase deficiency Metabolic myopathy due to neutral lipid storage disease Metabolic myopathy due to phosphoglycerate kinase deficiency Metabolic myopathy due to phosphoglycerate mutase deficiency Metabolic myopathy due to primary carnitine deficiency Metabolic neurotransmission anomaly with epilepsy Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic diseases with epilepsy Metabolic myopathy Metabolic myopathy due to betaenolase deficiency Metabolic myopathy due to fatty acid oxidation disorder Metabolic myopathy due to glycogen storage disease type IX Metabolic myopathy due to glycogen storage disease type V Metabolic myopathy due to glycogen storage disease type VII Metabolic myopathy due to lactate dehydrogenase deficiency Metabolic myopathy due to lactate transporter defect Metabolic myopathy due to phosphofructokinase deficiency Metabolic myopathy due to pyruvate carboxylase deficiency Metabolic myopathy due to pyruvate dehydrogenase deficiency Metabolic myopathy due to very long-chain acyl-CoA dehydrogenase deficiency Metabolic myopathy with exercise intolerance Metabolic myopathy with recurrent rhabdomyolysis Metabolic myopathy, unspecified Metachondromatosis Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Rosenberg type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal anadysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metastases without primary tumor Metastatic vascular neoplasm Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methionine adenosyltransferase I/ III deficiency Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylenetetrahydrofolate dehydrogenase 1 deficiency Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic aciduria, intermediate type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to MMAA deficiency Methylmalonic aciduria due to MMAB deficiency Methylmalonic aciduria due to MMADHC deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria, cblD type Methylmalonic aciduria, cblH type Methylmalonic aciduria, cblX type Methylmalonic aciduria, combined type Methylmalonic aciduria, isolated type Methylmalonic aciduria, neonatal type Methylmalonic aciduria, vitamin B12-responsive type Methylmalonyl-CoA epimerase deficiency Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA racemase deficiency Methylthioadenosine phosphorylase deficiency Metronidazole neurotoxicity Metronidazole-induced encephalopathy Mevalonate kinase deficiency Mevalonic aciduria Mevalonic aciduria, mild type Mevalonic aciduria, severe type Mexican type sialidosis Mianserin-induced agranulocytosis Micrencephaly Microangiopathic hemolytic anemia Microangiopathy, retinal Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic primordial dwarfism type I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type III Microcephalic osteodysplastic primordial dwarfism type IV Microcephaly with early-onset seizures and developmental delay Microcephaly with spastic quadriplegia Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 10 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 12 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 13 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 14 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 15 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 2 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 25 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 26 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 27 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 28 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 29 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 3 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 34 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 35 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 36 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 37 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 38 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 39 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 4 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 40 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 5 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 6 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 7 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 8 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 9 Microcephaly with or without chorioretinopathy, lymphoedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 16 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 17 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 18 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 19 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 20 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 21 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 22 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 23 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 24 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 30 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 31 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 32 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 33 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 41 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 42 Microcephaly with pontine and cerebellar hypoplasia Microcephaly with simplified gyral pattern Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-chorioretinopathy syndrome Microcephaly-corpus callosum agenesis-intellectual disability syndrome Microcephaly-deafness syndrome Microcephaly-epilepsy syndrome Microcephaly-eye anomalies syndrome Microcephaly-facial dysmorphism syndrome Microcephaly-hypogonadism syndrome Microcephaly-intellectual disability syndrome, autosomal recessive type Microcephaly-lissencephaly syndrome Microcephaly-micromelia syndrome Microcephaly-seizures syndrome Microcephaly-short stature syndrome Microcephaly-simplified gyral pattern-epilepsy syndrome Microcephaly-spastic diplegia syndrome Microcephaly-spastic quadriplegia syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-spasticity syndrome Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic lymphatic malformation Microcystic infiltrating lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdeletion of the AZF region on the Y chromosome Microdontia-type I microtiadeafness syndrome Microduplication Xp11.22p11.23 syndrome Microduplication 17p12 Microform holoprosencephaly Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-motor delaylanguage delay-brain anomaliesdiaphragmatic hernia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microscopic polyangiitis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 syndrome Microvenular haemangioma Microvillus inclusion disease Micturation-induced seizures Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Midline cerebral malformation Midline cervical cleft Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mikati-Najjar-Sahli syndrome Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller Fisher syndrome Mills syndrome Milroy disease Minimal change nephropathy Minimal pigment oculocutaneous albinism type 1 MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome Mirizzi syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror-image polydactyly Miscarriage Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA MiT family translocation renal cell carcinoma Mitchell Syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial Disorder Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy- aminoacidopathy syndrome Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathycerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a largescale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial short-chain enoylCoA hydratase 1 deficiency Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral regurgitation-deafnessskeletal anomalies syndrome Mitral atresia Mitral Regurgitation Mitral Stenosis Mitral valve agenesis Mitral Valve Insufficiency Mitral Valve Prolapse Mitten hand Mixed autoinflammatory and autoimmune syndrome Mixed functioning pituitary adenoma Mixed AIHA Mixed connective-tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and nonneuroendocrine neoplasm of pancreas Mixed phenotype acute leukemia with t(9;22)(q34;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia, B/myeloid, NOS Mixed phenotype acute leukemia, T/myeloid, NOS Mixed polyposis syndrome Mixed-type autoimmune hemolytic anemia MKKS-related Bardet-Biedl syndrome MKS1-related Joubert syndrome MKS1-related Meckel syndrome MKX deficiency MLASA syndrome due to mitochondrial tyrosyl-tRNA synthetase deficiency MLASA syndrome due to pseudouridine synthase deficiency MLASA syndrome MMAA-related methylmalonic aciduria MMAB-related methylmalonic aciduria MMACHC-related methylmalonic aciduria with homocystinuria MMADHC-related methylmalonic aciduria with homocystinuria MMAF MME-related axonal neuropathy MME-related late-onset CharcotMarie-Tooth disease MMIHS MMIHS with congenital mydriasis MMN MNGIE syndrome Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MOGS-CDG Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptinmelanocortin pathway anomaly Monogenic SRNS Monomelic amyotrophy Monomorphic epitheliotropic intestinal T-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q Monosomy 11q23 deletion syndrome Monosomy 12p Monosomy 13q Monosomy 14q11.2 Monosomy 14q22q23 Monosomy 14q32 Monosomy 15q Monosomy 16p13.3 Monosomy 16q Monosomy 17p Monosomy 17p13.3 Monosomy 17q Monosomy 18p Monosomy 18q Monosomy 19p13.3 Monosomy 19q13 Monosomy 20p Monosomy 20q Monosomy 21q Monosomy 22q11.2 Monosomy 22q13 Monosomy X Monosomy X mosaicism Monosomy Xp Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan syndrome Mosaic genome-wide paternal uniparental disomy syndrome Mosaic paternal uniparental disomy of chromosome 11 Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 Mosaic variegated aneuploidy syndrome type 2 Mosaic Legius syndrome Mosaic monosomy X syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic schwannomatosis Mosaic trisomy 1 syndrome Mosaic trisomy 10 syndrome Mosaic trisomy 12 syndrome Mosaic trisomy 14 syndrome Mosaic trisomy 15 syndrome Mosaic trisomy 16 syndrome Mosaic trisomy 17 syndrome Mosaic trisomy 18 syndrome Mosaic trisomy 19 syndrome Mosaic trisomy 2 syndrome Mosaic trisomy 20 syndrome Mosaic trisomy 21 syndrome Mosaic trisomy 22 syndrome Mosaic trisomy 3 syndrome Mosaic trisomy 4 syndrome Mosaic trisomy 5 syndrome Mosaic trisomy 6 syndrome Mosaic trisomy 7 syndrome Mosaic trisomy 8 syndrome Mosaic trisomy 9 syndrome Mosaic trisomy X syndrome Mosaic trisomy Y syndrome Mosaicism with genome instability syndrome Motor Neuron Disease Mounier-Kuhn syndrome Mowat-Wilson syndrome Moyamoya angiopathy, idiopathic Moyamoya disease Moyamoya Disease Moyamoya disease with earlyonset achalasia Moynahan syndrome MPDU1-CDG MPI-CDG MRCS syndrome MSH3-related polyposis MT-ATP6-related mitochondrial spastic paraplegia MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Mu-heavy chain disease MUC1-related autosomal dominant tubulointerstitial kidney disease Mucinous adenocarcinoma of ovary Mucinous cystadenoma of childhood Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous venous malformations Mucocutaneous Candidiasis Mucolipidosis Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 10 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type IS Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucormycosis Mucosa-associated lymphoid tissue lymphoma Mucosulfatidosis Mucous membrane pemphigoid Mudd's disease Mueller-Weiss syndrome Mulibrey nanism Mullerian Duct Aplasia Multicentric carpotarsal osteolysis syndrome Multicentric Castleman disease Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic Dysplastic Kidney Multifocal papillary thyroid carcinoma Multifocal superficial thrombophlebitis Multifocal atrial tachycardia Multifocal epithelial hyperplasia Multifocal fibrosclerosis Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal osteomyelitis, chronic recurrent Multifocal renal cell carcinoma Multifocal skeletal tuberculosis Multifocal vascular malformations syndrome Multifocal ventricular arrhythmia Multiglandular parathyroid disease Multiminicore disease Multinodular and vacuolating neuronal tumor Multinodular goiter Multiple congenital anomalieshypotonia-seizures syndrome Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasiamacrocephaly-facial dysmorphism syndrome Multiple epiphyseal dysplasiaminiepiphyses syndrome Multiple epiphyseal dysplasiasevere proximal femoral dysplasia syndrome Multiple isolated café-au-lait syndrome Multiple keratoacanthoma, Ferguson-Smith type Multiple mtDNA deletion syndrome Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium-malignant hyperthermia syndrome Multiple self-healing squamous epithelioma Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple acyl-CoA dehydrogenase deficiency Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 7 Multiple evanescent white dot syndrome Multiple glomus tumors Multiple hamartoma syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism congenital heart defects syndrome Multiple keratoacanthoma Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple ossifying fibroma Multiple pterygium syndrome Multiple sclerosis variant Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple venous malformations (Bean syndrome) Multisystem inflammatory syndrome in children and adults Multisystem Langerhans cell histiocytosis Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Muscle enolase deficiency Muscle filaminopathy Muscle glycogen storage disease due to phosphoglucomutase deficiency Muscle glycogen storage disease with exercise intolerance Muscle LIM protein deficiency Muscle phosphofructokinase deficiency Muscle phosphoglycerate kinase deficiency Muscle phosphoglycerate mutase deficiency Muscle weakness-intellectual disability syndrome Muscle weakness-ocular abnormalities syndrome Muscle-eye-brain disease Muscle-eye-brain disease with cerebellar cysts Muscle-eye-brain disease with cobblestone lissencephaly Muscle-type phosphofructokinase deficiency Muscular dystrophy, Duchenne type Muscular dystrophy, EmeryDreifuss type Muscular dystrophy, oculopharyngeal type Muscular dystrophy, Becker type Muscular dystrophy, limb-girdle type Muscular dystrophy-dystroglycanopathy type A Muscular dystrophy-dystroglycanopathy type B Muscular dystrophy-dystroglycanopathy type C Muscular dystrophy-dystroglycanopathy type D Muscular dystrophy-dystroglycanopathy type E Muscular dystrophy-dystroglycanopathy type F Muscular dystrophy-dystroglycanopathy type G Muscular dystrophy-dystroglycanopathy type H Muscular dystrophy-dystroglycanopathy type I Muscular dystrophy-dystroglycanopathy type J Muscular dystrophy-dystroglycanopathy type K Muscular dystrophy-dystroglycanopathy type L Muscular dystrophy-dystroglycanopathy type M Muscular dystrophy-dystroglycanopathy type N Muscular dystrophy-dystroglycanopathy type O Muscular dystrophy-dystroglycanopathy type P Muscular dystrophy-dystroglycanopathy type Q Muscular dystrophy-dystroglycanopathy type R Muscular dystrophy-dystroglycanopathy type S Muscular dystrophy-dystroglycanopathy type T Muscular dystrophy-dystroglycanopathy type U Muscular dystrophy-dystroglycanopathy type V Muscular dystrophy-dystroglycanopathy type W Muscular dystrophy-dystroglycanopathy type X Muscular dystrophy-dystroglycanopathy type Y Muscular dystrophy-dystroglycanopathy type Z Muscular hypertrophy hepatomegaly-polyhydramnios syndrome Muscular hypotonia-intellectual disability syndrome Muscular pseudohypertrophy hypothyroidism syndrome Musculoskeletal dysplasia with retinal degeneration Musculoskeletal-pulmonary insufficiency syndrome Mutase deficiency, methylmalonylCoA Myasthenia gravis, neonatal transient Myasthenia gravis with thymoma Myasthenia gravis, autoimmune Myasthenia gravis, seronegative Myasthenic syndrome due to acetylcholine receptor deficiency Myasthenic syndrome due to DOK7 deficiency Myasthenic syndrome due to MuSK deficiency Myasthenic syndrome due to rapsyn deficiency Myasthenic syndrome, congenital Myasthenic syndrome, congenital with episodic apnea Myasthenic syndrome, congenital with fast-channel defect Myasthenic syndrome, congenital with slow-channel defect MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterial cutaneous infection Mycobacterial lymphadenitis Mycobacterial osteomyelitis Mycobacterium avium complex infection Mycobacterium abscessus infection Mycobacterium kansasii infection Mycobacterium marinum infection Mycophenolate mofetil embryopathy Mycophenolate-induced colitis Mycoplasma encephalitis Mycoplasma pneumoniae infection Mycoplasma-associated encephalitis Mycosis fungoides with folliculotropism Mycosis fungoides Mycosis fungoides Mycosis fungoides and variants Mycosis fungoides, Alibert-Bazin type Mycosis fungoides, erythrodermic type Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelic limited dorsal malformation Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelitis Myelocerebellar disorder Myelocystocele Myelodysplasia-infection restriction of growth-adrenal hypoplasiagenital anomalies-enteropathy syndrome Myelodysplastic neoplasm with increased blasts Myelodysplastic neoplasm with increased blasts type 1 Myelodysplastic neoplasm with increased blasts type 2 Myelodysplastic neoplasm with low blasts Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic Syndrome Myelodysplastic/ myeloproliferative disease Myeloid hemopathy Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative Disease Myeloproliferative neoplasm Myeloschisis MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myiasis MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myocardial Fibrosis Myocardial Infarction Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy of infancy Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-rimmed vacuoles type 13 Myofibrillar myopathy-titinopathy Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopathy with rimmed ubiquitin-positive autophagic vacuolation Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency Myosclerosis Myosin storage myopathy Myositis tropicans Myospherulosis Myotilinopathy Myotonia fluctuans Myotonia permanens Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 MYRF-related cardiac urogenital syndrome MYSM1 deficiency MYT1L-associated neurodevelopmental disorder MYT1L-related developmental delay-intellectual disability-obesity syndrome Myxofibrosarcoma Myxoid leiomyosarcoma Myxoid malignant fibrous histiocytoma Myxoid neurofibroma Myxoid pleomorphic liposarcoma Myxoid solitary fibrous tumor Myxoid/round cell liposarcoma Myxoinflammatory fibroblastic sarcoma Myxoma of heart Myxoma with fibrous dysplasia Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxomatous mitral valve disease Myxomatous tumor syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1-phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency N-methyl-D-aspartate receptor encephalitis Na channel myasthenia Na-H exchanger 3 deficiency Nabais Sa-de Vries type 1 syndrome Nabais Sa-de Vries type 2 syndrome Nablus mask-like facial syndrome NAD(P)HX dehydratase deficiency NAD(P)HX epimerase deficiency Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAGA deficiency Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail anomaly Nail-patella syndrome Nail-patella-like renal disease Naito-Oyanagi disease Nakagawa angioblastoma Nakamura-Osame syndrome Nance-Horan syndrome Nanophthalmos Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Narcissistic Personality Disorder Narcolepsy Narcolepsy type 1 Narcolepsy type 2 NARP syndrome Nasal dermoid sinus cyst Nasal dorsum fistula Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NCKAP1L-associated hyperinflammatory disorder NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiosis lipoidica Necrobiotic xanthogranuloma Necrolytic acral erythema Necrolytic Migratory Erythema Necrotizing autoimmune myositis Necrotizing cellulitis Necrotizing enterocolitis Necrotizing fasciitis Necrotizing myositis Necrotizing soft tissue infection NEDMABA disorder NEK9-related lethal skeletal dysplasia Nelson syndrome Nemaline myopathy NEMO deleted exon 5 autoinflammatory syndrome Neonatal acute respiratory distress due to surfactant protein deficiency Neonatal adrenoleukodystrophy Neonatal alloimmune neutropenia Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonatal compartment syndrome Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes mellitus Neonatal encephalomyopathy cardiomyopathy-respiratory distress syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Neonatal focal intestinal perforation Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal renal venous thrombosis Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal Volkmann ischemic contracture syndrome Neonatal-onset epilepsy syndrome Neonatal-onset multisystem inflammatory disease Neonatal-onset spinal arteriovenous fistula Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Neonate - Low Apgar Score Neonate - Post Term Neoplastic hypereosinophilic syndrome Nephritis Nephroblastoma Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephronophthisis Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathy-deafness hyperparathyroidism syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic Syndrome Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nestor-Guillermo progeria syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neural tube defect Neuralgic amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency Neuroacanthocytosis Neurocutaneous melanocytosis Neurocutaneous syndrome with epilepsy Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegeneration-spasticity cerebellar atrophy-cortical visual impairment syndrome Neurodegenerative disease with chorea Neurodegenerative disease with dementia Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Neurodevelopmental delaycongenital heart defects-intellectual disability syndrome Neurodevelopmental delayhypotonia-cerebellar ataxia-cardiac conduction defects syndrome Neurodevelopmental delayhypotonia-cerebellar atrophy-cardiac conduction defects syndrome Neurodevelopmental delayintellectual disability-ataxia-feeding difficulty syndrome Neurodevelopmental delayintellectual disability-skeletal defects syndrome Neurodevelopmental delayseizures-ophthalmic anomalies-osteopeniacerebellar atrophy syndrome Neurodevelopmental disorder due to KDM2B-CxxC domain mutation Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental disorder with hearing loss and spastic quadriplegia Neurodevelopmental disorder-slitlike lateral ventricles-intellectual disability syndrome Neurodevelopmental disorderbrain malformation-facial dysmorphismbrachydactyly syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defectskeletal anomalies syndrome Neurodevelopmental disorderhypotonia-stereotypic hand movementsimpaired language Neurodevelopmental disordermicrocephaly-arthrogryposis-structural brain anomalies Neurodevelopmental disorderspasticity-movement disorder-epileptic syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroendocrine carcinoma of pancreas Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm Neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of esophagus Neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of the colon Neuroendocrine neoplasm of the small intestine Neuroendocrine Tumor Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of small bowel Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroendocrine tumor with other location Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis schwannomatosis Neurofibromatosis type 1 Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia-retinitis pigmentosa syndrome Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurological channelopathy due to genetic calcium channel defect Neurological channelopathy due to genetic chloride channel defect Neurological channelopathy due to genetic GABA receptor defect Neurological channelopathy due to genetic glycine receptor defect Neurological channelopathy due to genetic potassium channel defect Neurological channelopathy due to genetic sodium channel defect Neurological muscular channelopathy due to genetic calcium channel defect Neurological muscular channelopathy due to genetic chloride channel defect Neurological muscular channelopathy due to genetic potassium channel defect Neurological muscular channelopathy due to genetic ryanodine receptor defect Neurological muscular channelopathy due to genetic sodium channel defect Neurolymphomatosis Neurometabolic disease Neurometabolic disorder due to serine deficiency Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 1 Neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis type 11 Neuronal ceroid lipofuscinosis type 12 Neuronal ceroid lipofuscinosis type 13 Neuronal ceroid lipofuscinosis type 14 Neuronal ceroid lipofuscinosis type 2 Neuronal ceroid lipofuscinosis type 3 Neuronal ceroid lipofuscinosis type 4 Neuronal ceroid lipofuscinosis type 5 Neuronal ceroid lipofuscinosis type 6 Neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis type 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuronal tumor Neurooculocardiogenitourinary syndrome Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neuroretinitis Neurosensory deafness with dilated cardiomyopathy Neurotrophic keratitis Neurovascular malformation Neutral lipid storage disease Neutral lipid storage disease type M Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with severe cardiovascular involvement Neutropenia-monocytopenia deafness syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevoid basal cell carcinoma syndrome Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn Nevus sebaceus syndrome New-onset refractory status epilepticus Nezelof syndrome NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome NFAT5 haploinsufficiency NFKB1-related immune dysregulation NFU1 deficiency NGLY1 deficiency NHEJ1 deficiency Nicolaides-Baraitser syndrome Nicolau syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nipah encephalitis Nipah virus disease NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK/T-cell lymphoma NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease NMDA receptor encephalitis Nodal marginal zone B-cell lymphoma Nodal T-cell lymphoma with TFH phenotype Nodal T-follicular helper cell lymphoma, follicular type Nodal TFH lymphoma, follicular type Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular urticaria pigmentosa Noma NOMID syndrome Non-24-hour sleep-wake syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-alcoholic Fatty Liver Disease Non-amyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency Non-deforming osteogenesis imperfecta Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-dystrophic myopathy Non-epithelial cancer of ovary Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-fibrotic hypersensitivity pneumonitis Non-fluent variant primary progressive aphasia Non-functioning pancreatic neuroendocrine tumor Non-functioning paraganglioma Non-functioning pituitary adenoma Non-functioning welldifferentiated pancreatic neuroendocrine neoplasm Non-genetic central precocious puberty in male Non-hereditary degenerative ataxia Non-hereditary retinoblastoma Non-HFE-related hemochromatosis Non-histaminic angioedema Non-Hodgkin lymphoma Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-immune hydrops fetalis Non-infectious anterior uveitis Non-inflammatory peeling skin syndrome type A Non-inflammatory vasculopathy Non-insulinoma pancreatogenous hypoglycemia syndrome Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Langerhans cell histiocytosis Non-malignant non-cirrhotic portal vein thrombosis Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-paraneoplastic sensory ganglionopathy Non-paraneoplastic sensory neuronopathy Non-phenylketonuric non-BH4deficiency hyperphenylalaninemia Non-pneumonic Legionnaires disease Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive epilepsy and-or ataxia with myoclonus as a major feature Non-recovering obstetric brachial plexus lesion Non-rhizomelic chondrodysplasia punctata Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-severe combined immunodeficiency Non-specific autoimmune cerebellar ataxia Non-specific early-onset epileptic encephalopathy Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-specific syndromic intellectual disability Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic agammaglobulinemia Non-syndromic amelia Non-syndromic anal stenosis Non-syndromic anorectal malformation Non-syndromic anterior synostotic plagiocephaly Non-syndromic biliary atresia Non-syndromic brain malformation Non-syndromic central nervous system malformation Non-syndromic cloacal malformation Non-syndromic congenital bronchial anomaly Non-syndromic congenital bronchial atresia Non-syndromic congenital phagocyte functional defect Non-syndromic congenital sodium diarrhea Non-syndromic constitutional thrombocytopenia Non-syndromic craniosynostosis Non-syndromic dentinogenesis imperfecta Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation Non-syndromic esophageal malformation Non-syndromic gastrointestinal malformation Non-syndromic genetic hearing loss (DFNA/DFNB/DFNX) Non-syndromic heritable thoracic aortic disease Non-syndromic hypogammaglobulinemia Non-syndromic intercalary limb defect Non-syndromic intestinal malformation Non-syndromic joint formation defect Non-syndromic lambdoid craniosynostosis Non-syndromic limb hypoplasia Non-syndromic limb overgrowth Non-syndromic limb reduction defect Non-syndromic longitudinal limb defect Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic multiple suture synostosis Non-syndromic polydactyly Non-syndromic pontocerebellar hypoplasia Non-syndromic postaxial polydactyly Non-syndromic posterior hypospadias Non-syndromic preaxial polydactyly Non-syndromic renal tract malformation Non-syndromic reticular dysgenesis Non-syndromic retinal nonattachment Non-syndromic sagittal craniosynostosis Non-syndromic single suture synostosis Non-syndromic syndactyly Non-syndromic terminal transverse limb defect Non-syndromic thrombocytopenia Non-syndromic unicoronal craniosynostosis Non-syndromic urogenital tract malformation Non-syndromic uterovaginal malformation Non-syndromic vestibular fistula Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Non-terminal myelocystocele Non-transfusion dependent betathalassemia Non-transplant-related bronchiolitis obliterans Non-tuberculous mycobacterial extrapulmonary disease Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonmosaic Legius syndrome Nonmosaic neurofibromatosis type 1 Nonmosaic neurofibromatosis type 2-related schwannomatosis Nonmosaic schwannomatosis Nonne-Milroy lymphedema Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Norman-Landing disease Normomorphic sialidosis Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma NR1H4 deficiency NR4A2-related neurodevelopmental syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleepwake cycle disturbance NSD2-related syndrome NTHL1-related adenomatous polyposis NTHL1-related polyposis Nuclear factor kappa B subunit 1related immune dysregulation Nude/severe combined immunodeficiency Null cell pituitary adenoma Null pituitary adenoma Null syndrome NUT midline carcinoma O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia OAV spectrum Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to prohormone convertase I deficiency Obesity due to proopiomelanocortin deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidism cardiac hypertrophy-developmental delay syndrome Oblique facial cleft Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obsessive-Compulsive Disorder (OCD) Obstructed hemivagina and ipsilateral renal anomaly Obstructive Uropathy Occipital atretic cephalocele unusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Occult spina bifida Ochoa syndrome Ocular albinism Ocular albinism Nettleship-Falls type Ocular albinism type 1 Ocular albinism with late-onset sensorineural hearing loss Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cicatricial pemphigoid Ocular cystinosis Ocular motor apraxia, Cogan type Ocular siderosis Ocular surface squamous neoplasia Ocular-scoliotic Ehlers-Danlos syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital dysplasia Oculo-digito-esophageal-duodenal syndrome Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculoauricular syndrome Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocutaneous Albinism Oculocutaneous albinism Amish type Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type 8 Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd type Oculodentodigital syndrome Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculogastrointestinal neurodevelopmental syndrome Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia Oculoosteocutaneous syndrome Oculootodental syndrome Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculoskeletodental syndrome Oculotrichoanal syndrome Oculotrichodysplasia Odonto-onycho dysplasia alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digitopalmar syndrome Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome OEIS complex Oesophageal atresia Oesophageal Diverticuli Oesophageal Obstruction Oesophagitis Ofuji disease Ogden syndrome Oguchi disease Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohtahara syndrome Okamoto syndrome Okihiro syndrome Okur-Chung neurodevelopmental syndrome Olfactory neuroblastoma Oligoastrocytoma Oligocone trichromacy Oligodendroglioma Oligodontia Oligomeganephronia Oligophrenin-1 syndrome Oligosaccharidosis Oliver-McFarlane syndrome Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome Omenn syndrome Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophy imperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalomesenteric cyst Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine-Hirschsprung syndrome Onycho-digito-mammary syndrome Onychocytic matricoma Onychomatricoma Onychoosteodysplasia Oophoritis Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD spectrum disorder Open iniencephaly Open spina bifida Open spinal dysraphism Open spinal dysraphism with a myelomeningocele Open spinal dysraphism with a posterior meningocele Open split-cord malformation Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotonia ataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz BBB/G syndrome Opitz C trigonocephaly syndrome Opitz-Kaveggia syndrome Oppenheim dystonia Oppenheim-Urbach disease Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxia simultanagnosia syndrome Optic atrophy plus syndrome (Behr syndrome) Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-deafness polyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic disc pit Optic nerve edema-splenomegaly syndrome Optic pathway glioma Oral dysesthesia Oral submucous fibrosis Oral-facial-digital syndrome Oral-facial-digital syndrome Edwards type Oral-facial-digital syndrome Gabrielli type Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with short stature and brachymesophalangy Orbital Apex Syndrome Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Orbitofacial cleft Organoid nevus syndrome Orgasm-induced epilepsy Ormond disease Ornithine aminotransferase deficiency Ornithine carrier deficiency Ornithine decarboxylase deficiency Ornithosis Oroacral syndrome Orocraniodigital syndrome Orodynia Orofacial clefting syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Oromandibular dystonia Oromandibular-limb anomalies syndrome Oromandibular-limb hypogenesis syndrome Oropharyngeal teratoma Orotidylic decarboxylase deficiency Orthostatic intolerance due to NET deficiency Osebold-Remondini syndrome Osgood-Schlatter disease Osseous Ewing sarcoma Osseous-oculo-dental dysplasia Ossification anomalies psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoarthritis Osteoblastoma Osteochondritis dissecans and short stature Osteochondromuscular dystrophy Osteochondrosis of genetic origin Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta (Brittle bone disease) Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglophonic dwarfism Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelofibrosis Osteonecrosis Osteonecrosis Osteonecrosis of genetic origin Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia Osteopenia-intellectual disability sparse hair syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteopoikilosis Osteopoikilosis-short stature intellectual disability syndrome Osteoporosis Osteoporosis of pregnancy Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoradionecrosis of the mandible Osteosarcoma Osteosarcoma-limb anomalies erythroid macrocytosis syndrome Osteosclerosis Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis premature ovarian failure syndrome Osteosclerotic bone dysplasia Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome Otitis Externa Otitis Media Otodental dysplasia Otofaciocervical syndrome Otofaciocervical syndrome type 2 Otofaciocervical syndrome with thymic hypoplasia Otofaciocervical syndrome without thymic hypoplasia Otomandibular dysplasia Otoonychoperoneal syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian dysgerminoma Ovarian epithelial cancer Ovarian fibroma Ovarian fibrothecoma Ovarian germ cell cancer Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant epithelial tumor Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Mullerian tumor Ovarian malignant non-epithelial tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarioleukodystrophy Overgrowth obesity syndrome Overgrowth or tall stature syndrome with skeletal involvement Overgrowth syndrome Overgrowth syndrome with 2q37 translocation Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Overlap syndromes of autoimmune liver diseases Overlapping connective tissue disease Owren disease OXCT1 deficiency Oxoglutaric aciduria Oxoprolinuria due to oxoprolinase deficiency OXPHOS disease OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease with no known mechanism Oxysterol 7-alpha-hydroxylase deficiency Pancreatic Cysts Pancreatic Duct Obstruction Pancreatic Hyperplasia Pancreatic Neuroendocrine Tumour Pancreatitis Pancreatitis - Bacterial Parkinsonism Patent Ductus Arteriosus PCT - Type I Sporadic PCT - Type II Familial PCT - Type III PCT - Type IV Hepatoerythropoietic Porphyria PCT - Type V Toxic Porphyria Pellagra Pelvic Inflammatory Disease Peptic Ulcer Disease Pericardial Constriction Pericardial Effusion Pericarditis Peripheral Vascular Disease Peritoneal Mesothelial Tumour Peritonitis Pernicious Anaemia Perthes Disease Pfeiffer Syndrome Phaeochromocytoma Pituitary Tumour Pleural Aspergillosis Pleural Mesothelial Tumour Pleurisy Pleuritis Pneumonia Pneumonia - Aspiration Pneumonia - Bacterial Pneumonia - Haemorrhagic Pneumonia - Tuberculous Pneumonitis Pneumothorax Polyarteritis Nodosa Polycystic Ovary Syndrome Polymicrogyria Polymyalgia Rheumatica Polymyositis Polyneuritis Portal Hypertension Pott's Disease of the Spine Prader-Willi Syndrome Pre-Eclampsia Pregnancy - Cytomegalovirus Infection Premature Delivery Primary Acquired Sideroblastic Anaemia Primary Biliary Cirrhosis Primary hyperlipoproteinemia type III (Broad-beta disease) Primary Hypothyroidism Primary Small Intestinal Lymphoma - PSIL Progressive external ophthalmoplegia with riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome) Prolactinoma Prostatitis Protein Losing Enteropathy Pseudo-Obstruction Pseudomembranous Candidiasis Pseudotumour Cerebri Psoriasis Psoriatic arthropathy Pulmonary Artery Agenesis Pulmonary Artery Stenosis Pulmonary Disease - Obstructive Pulmonary Disease - Restrictive Pulmonary Embolus(i) Pulmonary Fibrosis Pulmonary Hypertension Pulmonary Interstitial Disease Pulmonary Oedema - Acute Pulmonary Regurgitation Pulmonary Valve Stenosis Pulmonary Vascular Thrombosis Purpura Fulminans Pyelonephritis Pyoarthrosis Radiculitis Radiculopathy RAEB in Transformation (RAEBIT) Ramsay Hunt Syndrome Refractory Anaemia Refractory Anaemia - Excess Blasts (RAEB) Refractory Anaemia - Ring Sideroblasts (RARS) Reiter's Syndrome Renal Abscess(es) Renal Agenesis Renal Artery Stenosis Renal Carcinoma Renal Cysts Renal Disease Renal Disease Renal Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Rickets Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Scapuloperoneal muscular dystrophy Scapuloperoneal myopathy, neurogenic type Scapuloperoneal spinal muscular atrophy Scapulothoracic dysostosis SCARF syndrome Scarring alopecia-short stature-craniofacial dysmorphism syndrome Schilder disease Schimke immuno-osseous dysplasia Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel phocomelia syndrome Schinzel syndrome Schinzel-Giedion syndrome Schizophrenia Schizophrenia Schmidt syndrome Schneckenbecken dysplasia Schnitzler syndrome Schoenlein-Henoch purpura Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Scleritis Scleroderma Scleroderma, diffuse cutaneous Scleroderma, limited cutaneous Scleromyxedema Sclerosing Cholangitis Sclerosing cholangitis, primary Sclerosing mesenteritis Sclerosing osteomyelitis Sclerosing peritonitis Sclerosing skin disorders, inherited Sclerosteosis Sclerotherapy-related complications Sclerotic fibroma SCN1A-related epileptic encephalopathy SCN2A-related epileptic encephalopathy SCN8A-related epileptic encephalopathy SCN9A-related congenital insensitivity to pain Scofield syndrome SCOT deficiency Scrotal calcinosis Scrotal elephantiasis Scrotal lymphedema Scrotal melanoma Scrotal squamous cell carcinoma Sea-blue histiocyte syndrome Sebaceous carcinoma Sebaceous hyperplasia, familial Sebaceous nevus of Jadassohn syndrome Seborrheic dermatitis Seckel syndrome Secondary Acquired Sideroblastic Anaemia Secondary hemophagocytic lymphohistiocytosis Secondary hyperoxaluria Secondary lymphedema Secondary myelofibrosis Secondary pulmonary hypertension Secondary sclerosing cholangitis Secondary Sjogren syndrome Secondary syphilis Secretory carcinoma of the breast Segawa syndrome Segmental neurofibromatosis Seip-Berardinelli congenital lipodystrophy Seizures, benign familial infantile Seizures, benign familial neonatal Seizures, benign familial neonatal-infantile Seizures, familial focal with variable foci Seizures, genetic epilepsy with febrile seizures plus Seizures, neonatal severe Seizures, progressive myoclonic epilepsy Seizures, reflex epilepsy Seizures, symptomatic focal epilepsy Selenoprotein deficiency disorder Selenoprotein N-related myopathy Self-healing collodion baby Self-healing squamous epithelioma SEMDCJL1-related skeletal dysplasia Semicircular canal dehiscence syndrome Seminoma Senear-Usher syndrome Sensory ataxic neuropathy Sensory neuropathy, hereditary Sensory processing disorder Septic arthritis Septic shock Septic Shock Septicaemia Septicaemia - Gram negative Septicemia Septo-optic dysplasia Septo-optic dysplasia spectrum Septo-optic pituitary dysplasia Serine biosynthesis defect Serine deficiency disorders Serotonin syndrome Serous cystadenoma of pancreas Serpiginous choroiditis Sertoli cell tumor Sertoli-Leydig cell tumor Serum amyloid A amyloidosis SeSAME syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Severe Combined Degeneration Severe combined immunodeficiency, T-B+ phenotype Severe combined immunodeficiency, T-B+NK+ phenotype Severe combined immunodeficiency, T-B+NK- phenotype Severe combined immunodeficiency, T-B- phenotype Severe combined immunodeficiency, T-B-NK+ phenotype Severe combined immunodeficiency, T-B-NK- phenotype Severe congenital neutropenia Severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to HAX1 deficiency Severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to VPS45 deficiency Severe cutaneous adverse drug reaction Severe developmental delay-epilepsy-short stature-deep set eyes syndrome Severe early-childhood-onset retinal dystrophy Severe fever with thrombocytopenia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome Severe megalencephaly-cortical malformation-capillary malformation syndrome Severe myoclonic epilepsy in infancy Severe neonatal episodic laryngospasm Severe neonatal-onset encephalopathy with microcephaly Severe persistent hyperinsulinemic hypoglycemia of infancy Severe skeletal dysplasia-intellectual disability-progeroid features syndrome Severe thrombocytopenia with Philadelphia chromosome-positive chronic myeloid leukemia Severe X-linked intellectual disability, Gustavson type Sezary Syndrome Shapiro syndrome Sharp syndrome Shashi-Pena syndrome Sheehan syndrome Sheldon-Hall syndrome Shiga toxin-associated hemolytic uremic syndrome Shigellosis Shin splints syndrome Shinzel-Giedion midface retraction syndrome Short QT syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short stature due to growth hormone deficiency Short stature with microcephaly and distinctive facies Short stature with pigmentary skin changes and skeletal anomalies Short stature with precocious puberty and dysmorphic features Short stature with speech delay and facial dysmorphism Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-facial dysmorphism-skeletal anomalies syndrome Short stature-hyperextensible joints-hernia-ocular depression-Rieger anomaly syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic nerve atrophy-Pelger-Huet anomaly syndrome Short stature-renal disease syndrome Short stature-skeletal anomalies-intellectual disability syndrome Short stature-slow hair growth-intellectual disability syndrome Short stature-valvular heart disease-characteristic facies syndrome Shoulder girdle myopathy Shprintzen syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg syndrome Sialadenitis, chronic recurrent Sialidosis Sialidosis type 1 Sialidosis type 2 Sicca syndrome Sickle cell disease with crisis Sickle cell-beta thalassemia Sideroblastic anemia Sideroblastic anemia, X-linked Siderosis, pulmonary SIDS Siegel syndrome Siemens syndrome Sifrim-Hitz-Weiss syndrome SIL1-related Marinesco-Sjögren syndrome Silver-Russell syndrome Simpson - Golabi - Behmel Syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinus histiocytosis with massive lymphadenopathy Sinus node dysfunction Sinus pericranii Sirenomelia SIRS Sjogren's Syndrome Sjögren syndrome with extraglandular involvement Sjögren syndrome with glandular involvement Sjögren syndrome, primary Sjögren syndrome, secondary Sjögren-Larsson syndrome Skeletal dysplasia with brachydactyly and joint laxity Skeletal dysplasia with microcephaly and intellectual disability Skeletal dysplasia-intellectual disability syndrome Skeletal muscle calcium channelopathy Skeletal muscle channelopathy Skeletal muscle chloride channelopathy Skeletal muscle potassium channelopathy Skeletal muscle ryanodine receptor channelopathy Skeletal muscle sodium channelopathy Skin - Squamous Cell Carcinoma Skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin peeling syndrome Skin peeling syndrome, acral type Skin peeling syndrome, generalized inflammatory type Skin peeling syndrome, generalized non-inflammatory type Skin peeling syndrome, localized type Skull base chordoma Skull dysplasia, familial Sleep Deprivation Slipped capital femoral epiphysis Slow channel congenital myasthenic syndrome Slow transit constipation SMARD1 Smith syndrome Smith-Magenis syndrome SMN1-related spinal muscular atrophy Smouldering multiple myeloma Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOFT syndrome Sotos syndrome type 2 Sotos syndrome type 3 Sotos-like syndrome Sowden syndrome Sparing syndrome Spastic ataxia Spastic paraplegia type 1 Spastic paraplegia type 10 Spastic paraplegia type 11 Spastic paraplegia type 12 Spastic paraplegia type 13 Spastic paraplegia type 14 Spastic paraplegia type 15 Spastic paraplegia type 16 Spastic paraplegia type 17 Spastic paraplegia type 18 Spastic paraplegia type 19 Spastic paraplegia type 2 Spastic paraplegia type 20 Spastic paraplegia type 21 Spastic paraplegia type 22 Spastic paraplegia type 23 Spastic paraplegia type 24 Spastic paraplegia type 25 Spastic paraplegia type 26 Spastic paraplegia type 27 Spastic paraplegia type 28 Spastic paraplegia type 29 Spastic paraplegia type 3 Spastic paraplegia type 30 Spastic paraplegia type 31 Spastic paraplegia type 32 Spastic paraplegia type 33 Spastic paraplegia type 34 Spastic paraplegia type 35 Spastic paraplegia type 36 Spastic paraplegia type 37 Spastic paraplegia type 38 Spastic paraplegia type 39 Spastic paraplegia type 4 Spastic paraplegia type 40 Spastic paraplegia type 41 Spastic paraplegia type 42 Spastic paraplegia type 43 Spastic paraplegia type 44 Spastic paraplegia type 45 Spastic paraplegia type 46 Spastic paraplegia type 47 Spastic paraplegia type 48 Spastic paraplegia type 49 Spastic paraplegia type 5 Spastic paraplegia type 50 Spastic paraplegia type 51 Spastic paraplegia type 52 Spastic paraplegia type 53 Spastic paraplegia type 54 Spastic paraplegia type 55 Spastic paraplegia type 56 Spastic paraplegia type 57 Spastic paraplegia type 58 Spastic paraplegia type 59 Spastic paraplegia type 6 Spastic paraplegia type 60 Spastic paraplegia type 61 Spastic paraplegia type 62 Spastic paraplegia type 63 Spastic paraplegia type 64 Spastic paraplegia type 65 Spastic paraplegia type 66 Spastic paraplegia type 67 Spastic paraplegia type 68 Spastic paraplegia type 69 Spastic paraplegia type 7 Spastic paraplegia type 70 Spastic paraplegia type 71 Spastic paraplegia type 72 Spastic paraplegia type 73 Spastic paraplegia type 74 Spastic paraplegia type 75 Spastic paraplegia type 76 Spastic paraplegia type 77 Spastic paraplegia type 78 Spastic paraplegia type 79 Spastic paraplegia type 8 Spastic paraplegia type 80 Spastic paraplegia type 81 Spastic paraplegia type 82 Spastic paraplegia type 83 Spastic paraplegia type 84 Spastic paraplegia type 85 Spastic paraplegia type 86 Spastic paraplegia type 87 Spastic paraplegia type 88 Spastic paraplegia type 89 Spastic paraplegia type 9 Spastic tetraplegia Spasticity with white matter abnormalities Spasticity, hereditary Spasticity-ataxia syndrome Spasticity-intellectual disability-seizures syndrome Spasticity-paraplegia-neuropathy syndrome Speckled lentiginous nevus syndrome Speech delay-intellectual disability syndrome Speech sound disorder Spherocytosis, hereditary Spherophakia Sphingolipidosis Sphingomyelin lipidosis Sphingomyelinase deficiency Spina bifida Spina bifida occulta Spinal and bulbar muscular atrophy Spinal arteriovenous malformation Spinal cord astrocytoma Spinal cord compression Spinal Cord Compression Spinal cord ependymoma Spinal cord injury Spinal cord ischemia Spinal cord malformation Spinal cord tumor Spinal dysraphism Spinal Epidural Abscess Spinal epidural lipomatosis Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, congenital with arthrogryposis Spinal muscular atrophy, distal Spinal muscular atrophy, distal hereditary motor neuropathy type Spinal muscular atrophy, juvenile Spinal muscular atrophy, non-5q type Spinal muscular atrophy, type 0 Spinal muscular atrophy, type 1 Spinal muscular atrophy, type 2 Spinal muscular atrophy, type 3 Spinal muscular atrophy, type 4 Spinal muscular atrophy, X-linked Spinal neurofibromatosis Spinal osteochondroma Spinal osteosarcoma Spinal paraganglioma Spinal schwannoma Spinal stenosis Spinal subdural hematoma Spinal subependymoma Spinal teratoma Spinal tuberculosis Spinal vascular malformation Spinal vascular tumor Spinalis muscle myopathy Spindle cell carcinoma Spindle cell hemangioma Spindle cell lipoma Spindle cell melanoma Spindle cell oncocytoma of the pituitary gland Spindle cell sarcoma Spine Abscess Spinocerebellar Ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 24 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27A Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 33 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 39 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 44 Spinocerebellar ataxia type 45 Spinocerebellar ataxia type 46 Spinocerebellar ataxia type 47 Spinocerebellar ataxia type 48 Spinocerebellar ataxia type 49 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 50 Spinocerebellar ataxia type 51 Spinocerebellar ataxia type 52 Spinocerebellar ataxia type 53 Spinocerebellar ataxia type 54 Spinocerebellar ataxia type 55 Spinocerebellar ataxia type 56 Spinocerebellar ataxia type 57 Spinocerebellar ataxia type 58 Spinocerebellar ataxia type 59 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 60 Spinocerebellar ataxia type 61 Spinocerebellar ataxia type 62 Spinocerebellar ataxia type 63 Spinocerebellar ataxia type 64 Spinocerebellar ataxia type 65 Spinocerebellar ataxia type 66 Spinocerebellar ataxia type 67 Spinocerebellar ataxia type 68 Spinocerebellar ataxia type 69 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 70 Spinocerebellar ataxia type 71 Spinocerebellar ataxia type 72 Spinocerebellar ataxia type 73 Spinocerebellar ataxia type 74 Spinocerebellar ataxia type 75 Spinocerebellar ataxia type 76 Spinocerebellar ataxia type 77 Spinocerebellar ataxia type 78 Spinocerebellar ataxia type 79 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 80 Spinocerebellar ataxia type 81 Spinocerebellar ataxia type 82 Spinocerebellar ataxia type 83 Spinocerebellar ataxia type 84 Spinocerebellar ataxia type 85 Spinocerebellar ataxia type 86 Spinocerebellar ataxia type 87 Spinocerebellar ataxia type 88 Spinocerebellar ataxia type 89 Spinocerebellar ataxia type 9 Spinocerebellar ataxia type 90 Spinocerebellar ataxia type 91 Spinocerebellar ataxia type 92 Spinocerebellar ataxia type 93 Spinocerebellar ataxia type 94 Spinocerebellar ataxia type 95 Spinocerebellar ataxia type 96 Spinocerebellar ataxia type 97 Spinocerebellar degeneration with peripheral neuropathy Spinocerebellar degeneration, autosomal dominant Spinocerebellar degeneration, autosomal recessive Spinocerebellar syndrome with epilepsy Spinocerebellar syndrome with pyramidal signs Spinocerebellar syndrome with retinal degeneration Spinocerebellar syndrome with sensorineural hearing loss Spinocerebellar syndrome with spasticity Spitz nevus Splenic abscess Splenic artery aneurysm Splenic cyst Splenic marginal zone lymphoma Splenic Rupture Splenic sequestration crisis Splenic vein thrombosis Splenomegaly with cytopenia syndrome Splenomegaly, hereditary Split hand/foot malformation Split hand/foot malformation type 1 Split hand/foot malformation type 2 Split hand/foot malformation type 3 Split hand/foot malformation type 4 Split hand/foot malformation type 5 Split hand/foot malformation type 6 Split hand/foot malformation type 7 Split hand/foot malformation type 8 Split hand/foot malformation with long bone deficiency Split hand/foot malformation with tibial aplasia Split notochord syndrome Splitting of the spinal cord Spondyloarthritis Spondyloarthritis associated with inflammatory bowel disease Spondyloarthritis, undifferentiated Spondyloarthropathy Spondyloarthropathy, axial Spondyloarthropathy, peripheral Spondylocostal dysostosis Spondylocostal dysostosis type 1 Spondylocostal dysostosis type 10 Spondylocostal dysostosis type 11 Spondylocostal dysostosis type 12 Spondylocostal dysostosis type 13 Spondylocostal dysostosis type 14 Spondylocostal dysostosis type 15 Spondylocostal dysostosis type 16 Spondylocostal dysostosis type 17 Spondylocostal dysostosis type 18 Spondylocostal dysostosis type 19 Spondylocostal dysostosis type 2 Spondylocostal dysostosis type 20 Spondylocostal dysostosis type 3 Spondylocostal dysostosis type 4 Spondylocostal dysostosis type 5 Spondylocostal dysostosis type 6 Spondylocostal dysostosis type 7 Spondylocostal dysostosis type 8 Spondylocostal dysostosis type 9 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, tarda X-linked Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia with cone-rod dystrophy Spondylometaphyseal dysplasia with dentinogenesis imperfecta Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, axial type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, filamin A type Spondylometaphyseal dysplasia, handigodu type Spondylometaphyseal dysplasia, Japanese type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, plasmalemma vesicle-associated protein type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, short limb type Spondylometaphyseal dysplasia, short limb-abnormal calcification type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, with corneal dystrophy Spondylometaphyseal dysplasia, with dentinogenesis imperfecta Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-corneal dystrophy syndrome Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondylothoracic dysostosis Spondylothoracic dysostosis, autosomal recessive Spongiform leukoencephalopathy with chronic euphoria Spontaneous Abortion Spontaneous coronary artery dissection Spontaneous intracranial hypotension Spontaneous periodic hypothermia Spontaneous pneumothorax Spontaneous splenic rupture Spotted fever rickettsiosis Sprengel deformity Sprinz-Nelson syndrome SPTLC1-related hereditary sensory and autonomic neuropathy SQUAMOS syndrome Squamous cell carcinoma of the conjunctiva Squamous cell carcinoma of the eyelid Squamous cell carcinoma of the lip Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the skin Squamous odontogenic tumor SRD5A3-congenital disorder of glycosylation SRSF2-related myelodysplastic syndrome SSADH deficiency SSPE Staphylococcal scalded skin syndrome Stargardt disease Stargardt disease type 1 Stargardt disease type 3 Starvation ketoacidosis Static encephalopathy Steatocystoma multiplex Steele-Richardson-Olszewski syndrome Steinert disease Stenosis of aqueduct of Sylvius Stenotrophomonas maltophilia infection Stensen duct obstruction Sterility - Female Sterility - Male Steroid-resistant nephrotic syndrome Steroid-sensitive nephrotic syndrome Stevens Johnson Syndrome Stevens-Johnson syndrome Stewart-Treves syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stiff skin syndrome Still disease, adult-onset Stomatin-deficient cryohydrocytosis Stomatocytosis, dehydrated hereditary Stomatocytosis, overhydrated hereditary Stormorken syndrome Stromme syndrome Sturge-Weber syndrome Stuve-Wiedemann syndrome Subacute Combined Degeneration of Cord Subacute sclerosing panencephalitis Subacute Sclerosing Panencephalitis - SSPE Subaortic stenosis, discrete Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical laminar heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal heterotopia Subependymal nodular heterotopia Subependymal nodules Subependymoma Subungual exostosis Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital Sudanophilic leukodystrophy Sudden infant death syndrome Sudden unexplained death in epilepsy Sudden unexplained nocturnal death syndrome Sulfite oxidase deficiency Sulfite Oxidase Deficiency Sulfite oxidase deficiency, isolated Sulfoglucuronosyl paragloboside ceramide lipidosis Sulfur amino acid metabolism disorder Superior mesenteric artery syndrome Superior Vena Caval Obstruction Supranuclear gaze palsy Supratentorial primitive neuroectodermal tumor Surfactant metabolism dysfunction, pulmonary Surfactant protein B deficiency Surfactant protein C deficiency Surfactant protein deficiency, congenital Susac syndrome Sweet syndrome Swyer syndrome Swyer-James-MacLeod syndrome Sydenham chorea Sydenham's Chorea Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal Symphalangism, proximal Synapsin-related neurodevelopmental disorder Syncope, catecholaminergic polymorphic ventricular tachycardia-related Syndromic craniosynostosis Syndromic deafness Syndromic intellectual disability Syndromic microphthalmia Syndromic obesity Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic outer canthal malposition Syndromic palpebral coloboma Syndromic recessive X-linked ichthyosis Syndromic renal or urinary tract malformation Syndromic respiratory or mediastinal malformation Syndromic retinal dystrophy Syndromic rod-cone dystrophy Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic telecanthus Syndromic urogenital tract malformation Syndromic uterovaginal malformation Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Syndromic vitreoretinopathy Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related arthrogryposis multiplex congenita SYNGAP1-related developmental and epileptic encephalopathy Syngnathia-cleft palate syndrome Syngnathia-multiple anomalies syndrome Synovial chondromatosis Synovial sarcoma Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synspondylism Syntelencephaly Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic autoimmune disease Systemic autoinflammatory disease due to NEMO exon 5 deletion Systemic candidiasis Systemic capillary leak syndrome Systemic disease with glomerulopathy as a major feature Systemic disease with skin involvement Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic karyomegaly Systemic Lupus Erythematosus Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic polyarteritis nodosa Systemic primary carnitine deficiency Systemic sarcoidosis (Boeck) Systemic Sclerosis Systemic sclerosis Systemic sclerosis sine scleroderma Systemic vasculitis associated with glomerulopathy T-cell acute lymphoblastic leukemia T-cell large granular lymphocyte leukemia T-cell non-Hodgkin lymphoma T-cell prolymphocytic leukemia Takotsubo cardiomyopathy Takotsubo cardiomyopathy (stress-induced cardiomyopathy) Talaromycosis (Talaromyces marneffei infection) TANGO2-related metabolic encephalopathy-arrhythmia syndrome TAR syndrome (thrombocytopenia-absent radius syndrome) TARP syndrome Tarui disease (glycogen storage disease type VII) Tatton-Brown-Rahman overgrowth syndrome Taussig-Bing syndrome TBCD TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome TCA cycle disorder TCF12-related syndromic craniosynostosis TCR-alpha-beta-positive T-cell deficiency TDO syndrome Teebi hypertelorism syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric fluid collections-intrapulmonary shunting syndrome Telangiectatic capillary malformation Telecanthus-hypertelorism-strabismus-pes cavus syndrome Telethonin-related limb-girdle muscular dystrophy R7 Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 13q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 5q Telomeric deletion 9p Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 1p36 Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric monosomy 3p Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temple-Baraitser syndrome Temporal arteritis (giant cell arteritis) Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal extramedullary conus spinal cord lipoma Terminal myelocystocele Terminal osseous dysplasia-pigmentary defects syndrome Terrien marginal degeneration Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessier number 7 facial cleft Testicular agenesis Testicular Dysgenesis Testicular germ cell tumor Testicular regression syndrome Testicular seminoma Testicular sex cord-stromal tumor TET3-related Beck-Fahrner syndrome Tetra X Tetraamelia-multiple malformations syndrome Tetragametic chimerism syndrome Tetrahydrobiopterin-responsive phenylketonuria Tetrahydrobiopterin-unresponsive phenylketonuria Tetramelic monodactyly Tetrasomy 11q24.1 Tetrasomy 15q26 Tetrasomy 18p syndrome Tetrasomy 21 syndrome Tetrasomy 5p syndrome Tetrasomy 9p syndrome Tetrasomy X syndrome Teunissen-Cremers syndrome TFE3-related neurodevelopmental disorder TFR2-related hemochromatosis TFRC-related combined immunodeficiency Thakker-Donnai syndrome Thalassaemia Intermedia Thalassaemia Major Thalassaemia Trait Thalidomide embryopathy Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia-cloverleaf skull syndrome Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder Theca steroid-producing cell tumor of ovary Theodore superior limbic keratoconjunctivitis Therapy-related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thickened earlobes-conductive hearing loss syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bones-dysmorphism syndrome Thinking epilepsy Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic malformation Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-fever renal insufficiency-organomegaly syndrome Thromboembolism Thrombomodulin-related bleeding disorder Thrombotic microangiopathy Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Thumb deformity-alopecia pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Thurston syndrome Thygeson superficial punctate keratitis Thymic carcinoma Thymic epithelial tumor Thymic neuroendocrine tumor Thymic Neuroendocrine Tumour Thymoma hypogammaglobulinemia syndrome Thyrocerebrorenal syndrome Thyroid Carcinoma Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid-renal-digital anomalies Thyroiditis Thyrotoxic periodic paralysis Thyrotoxicosis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial muscular dystrophy Tibiofibular diaphyseal toxopachyosteosis Tick-borne encephalitis Tietz syndrome Timothy syndrome Timothy syndrome type 1 Timothy syndrome type 2 TINU syndrome Titin-related limb-girdle muscular dystrophy R10 TJP2 deficit TKT deficiency TLK2-related neurodevelopmental disorder TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome TM2D3-related neurodevelopmental disorder TMEM147-related neurodevelopmental disorder TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Torpedo maculopathy Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tortuosity of retinal arteries Total color blindness Total early-onset cataract Touraine-Solente-Gole syndrome Townes syndrome Toxic dermatosis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic or drug-related embryofetopathy Toxic pustuloderma Toxin-mediated infectious botulism Toxocariasis Toxoplasma embryofetopathy TPHA TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay Traboulsi syndrome Tracheal agenesis Tracheal anomaly Tracheal atresia Tracheal Obstruction Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica TRAF7-associated heart defect-digital anomalies-facial dysmorphism syndrome Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient antenatal Bartter syndrome Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal TSH receptor-blocking antibodies Transient congenital hypothyroidism due to neonatal hyperthyrotropinemia Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient Ischaemic Attacks Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient predisposition to invasive pyogenic bacterial infection Transient pseudohypoaldosteronism Transient reactive papulotranslucent acrokeratoderma Transient tyrosinemia of the newborn Transition renal cell carcinoma Transitional atrioventricular canal defect Transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract Transitional PMD Transketolase deficiency Translocation renal cell carcinoma Transplacentally acquired neonatal autoimmune disease Transplant-related bronchiolitis obliterans Transposition of the great arteries Transposition of the great arteries and conotruncal heart defects Transverse facial cleft Transverse Myelitis Transverse vaginal septum TRAP sequence TRAPPC11-related limb-girdle muscular dystrophy R18 Traumatic avascular necrosis Traumatic AVN Traumatic myiasis TRDN-related isolated congenital Long QT syndrome Treacher-Collins syndrome Trehalase deficiency Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triatrial heart Trichinellosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichofolliculoma Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tricuspid Regurgitation Trigeminal autonomic cephalalgia Trigeminal neuralgia Trigeminal trophic syndrome Triglyceride deposit cardiomyovasculopathy Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Trilineage bone marrow failure-developmental delay syndrome TRIM22-related IBD TRIM22-related inflammatory bowel disease TRIM32-related limb-girdle muscular dystrophy R8 Trimethylaminuria Triophthalmia Triopia Triose phosphate-isomerase deficiency TRIP13-related Wilms tumor predisposition syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triple A syndrome Triple H syndrome Triple X Syndrome Triplication 15q25-qter Triplication 15q26 Triplo-X syndrome Triploidy syndrome Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 10 mosaicism Trisomy 10p syndrome Trisomy 12 mosaicism Trisomy 12p syndrome Trisomy 13 syndrome Trisomy 14 mosaicism Trisomy 15 mosaicism Trisomy 16 mosaicism Trisomy 17 mosaicism Trisomy 17p syndrome Trisomy 18 syndrome Trisomy 18p syndrome Trisomy 1q syndrome Trisomy 2 mosaicism Trisomy 20 mosaicism Trisomy 20p syndrome Trisomy 21 Trisomy 22 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism Trisomy 4p syndrome Trisomy 5 mosaicism Trisomy 5p syndrome Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 8p syndrome Trisomy 8q syndrome Trisomy 9 mosaicism Trisomy 9p syndrome Trisomy X syndrome Tritan colour blindness Tritanopia Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRPV4-related bone disorder True congenital pancreatic cyst True congenital shoulder dislocation True microcephaly True myelomeningocele True unicornuate uterus Truncus arteriosus Tsao-Ellingson syndrome TSC2/PKD1 contiguous gene syndrome TSH-secreting pituitary adenoma TSHZ3-related congenital anomalies of kidney-urinary tract syndrome Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever Tubal cancer Tuberculosis Tuberculosis of respiratory system Tuberous Sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tufted angioma Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor of cranial and spinal nerves Tumor of testis and paratestis Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tunnel subaortic stenosis Turban tumor syndrome Turner Syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turnpenny-Fry syndrome Twin anemia-polycythemia sequence Twin-reversed arterial perfusion sequence Twin-to-twin transfusion syndrome Tylosis with oesophageal cancer Tylosis-oesophageal carcinoma syndrome Type 1 galactosemia Type 1 interferonopathy Type 1 syndactyly-microcephaly-intellectual disability syndrome Type 2 galactosemia Type 3 galactosemia Type 4 galactosemia Type I OI Type II OI Type III OI Type IV OI Typhoidal salmonellosis Typical hemolytic uremic syndrome Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Ulcerative Colitis Undifferentiated Pleomorphic Sarcoma Unifocal Langerhans Cell Histiocytosis Uniparental Disomy Univentricular Heart Universal Melanosis Unroofed Coronary Sinus Unspecified Mitochondrial Disorder Upington Disease Upper Respiratory Tract Infections Upper Tract Urothelial Carcinoma Urachal Carcinoma Urachal Tumour Urbach-Wiethe Disease Urban-Rifkin-Davis Syndrome Urban-Rogers-Meyer Syndrome Urban-Schosser-Spohn Syndrome Ureter Carcinoma Uridine 5'-monophosphate hydrolase deficiency Uridine Monophosphate Synthetase Deficiency Urinary Tract Infection s Urioste Syndrome Urocanic Aciduria Urofacial Syndrome Urogenital Tuberculosis Urological Carcinoma Urothelial Carcinoma Urrets-Zavalia Syndrome Uterine Carcinosarcoma Uterine Malignant Mixed Mullerian Tumour UV-sensitive Syndrome Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveomeningitic Syndrome Vaccine-induced immune thrombotic thrombocytopenia VACTERL association VACTERL with hydrocephalus Vacuolar aggregate myopathy Vacuolar sorting protein 45 deficiency Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell tumor Valine metabolic defect Valproic acid embryopathy Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome Vanishing bone disease Vanishing testis syndrome Váradi syndrome Variable age-onset epilepsy syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant Creutzfeldt-Jakob disease Variant of Guillain-Barré syndrome Vascular Ehlers-Danlos polymicrogyria syndrome Vascular Ehlers-Danlos syndrome Vasculitis-autoinflammation immunodeficiency-hematologic defects syndrome Vasoproliferative tumor of the retina Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VCAN-related vitreoretinopathy Vegetant intravascular hemangioendothelioma Vegetative pyoderma gangrenosum VEGFC-related congenital primary lymphedema Vein of Galen arteriovenous malformation Velo-facial-skeletal syndrome Venezuelan hemorrhagic fever Venolymphatic malformation Venous malformation of the spleen Venous malformations with glomus cells Ventilator-induced diaphragmatic dysfunction Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Ventricular septal defect with aortic insufficiency Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verrucous venous malformation Very early-onset schizophrenia Vesicourachal diverticulum VEXAS syndrome Vibratory angioedema Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome Viral hemorrhagic fever Viral Infections Viral myositis Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral arteriovenous malformation Visceral calciphylaxis Visceral fibromuscular dysplasia Visceral heterotaxy Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visual snow syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Vitamin B6-dependent seizures Vitamin D-dependent rickets type I Vitamin D-dependent rickets type II Vitelliform macular dystrophy (Best vitelliform macular dystrophy) Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo Vitreoretinopathy Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease Volcke-Soekarman syndrome Von Meyenburg complexes disease Von Voss-Cherstvoy syndrome VPS11-related autosomal recessive hypomyelinating leukodystrophy VPS45 deficiency Vulto-van Silfout-de Vries syndrome Vulvar adenocarcinoma Vulvar basal cell carcinoma Vulvar carcinoma Vulvar intraepithelial neoplasia Vulvar squamous cell carcinoma Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease Västerbotten dystrophy Weill - Marchesani Syndrome West Syndrome ( Infantile Spasms ) Wilms Tumor Wilson's Disease Wolff-Parkinson-White Syndrome X Chromosome Number Anomaly Syndrome X Chromosome Number Anomaly with Female Phenotype Syndrome X Chromosome Number Anomaly with Male Phenotype Syndrome X-linked acqueductal stenosis X-linked Acrogigantism X-linked Adrenal Hypoplasia Congenita X-linked agammaglobulinemia (Bruton) X-linked AHC X-linked Alpha-thalassemia Intellectual Disability Syndrome X-linked Alport Syndrome X-linked Alport Syndrome-diffuse Leiomyomatosis X-linked Angelman-like Syndrome X-linked aqueductal stenosis X-linked aqueductal stenosis with hydrocephalus X-linked Ataxia-Deafness Syndrome X-linked ataxia-dementia syndrome X-linked ataxia-hearing loss syndrome X-linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 X-linked Autoinflammatory and Immunodeficiency Disease Associated with ELF4 X-linked Branchial Arch Syndrome X-linked bulbospinal muscular atrophy X-linked Calvarial Hyperostosis X-linked Cardioskeletal Myopathy and Neutropenia X-linked Central Congenital Hypothyroidism with Late-onset Macroorchidism X-linked Centronuclear Myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral degeneration syndrome X-linked cerebral-cerebellar degeneration syndrome X-linked Cerebral-Cerebellar-Coloboma Syndrome X-linked Charcot-Marie-Tooth Disease X-linked chondrodysplasia punctata type 2 X-linked Cleft Palate and Ankyloglossia X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital anemia neutropenia syndrome X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked Congenital Generalized Hypertrichosis X-linked corneal dermoid X-linked Creatine Transporter Deficiency X-linked Cutaneous Amyloidosis X-linked deafness syndrome X-linked deafness-intellectual disability syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal hereditary motor neuropathy type 3 X-linked distal myopathy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria X-linked dystonia syndrome X-linked Dystonia-Parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss Muscular Dystrophy X-linked Endothelial Corneal Dystrophy X-linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome X-linked Erythropoietic Protoporphyria X-linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome X-linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked Hearing Loss-Intellectual Disability Syndrome X-linked Hereditary Motor and Sensory Neuropathy X-linked hereditary neuropathy X-linked hereditary sensory and autonomic neuropathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked Hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked Hyper-IgM Syndrome X-linked Hypohidrotic Ectodermal Dysplasia X-linked Immune Dysregulation with Inflammatory Bowel Disease due to ELF4 Deficiency X-linked immunodeficiency syndrome X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia X-linked Immunoneurologic Disorder X-linked Incomplete Achromatopsia X-linked intellectual disability cardiomegaly-congestive heart failure syndrome X-linked intellectual disability cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability cubitus valgus-dysmorphism syndrome X-linked Intellectual Disability due to GRIA3 Mutations X-linked Intellectual Disability due to PQBP1 Mutations X-linked intellectual disability dysmorphism-cerebral atrophy syndrome X-linked intellectual disability epilepsy syndrome X-linked intellectual disability global developmental delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability gynecomastia-obesity syndrome X-linked intellectual disability hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability hypotonia-movement disorder syndrome X-linked intellectual disability limb spasticity-retinal dystrophy-arginine vasopressin deficiency X-linked intellectual disability microcephaly-cortical malformation-thin habitus syndrome X-linked intellectual disability microcephaly-testicular failure syndrome X-linked intellectual disability progressive joint contractures-dysmorphism syndrome X-linked intellectual disability psychosis-macroorchidism syndrome X-linked intellectual disability seizures syndrome X-linked intellectual disability syndrome X-linked Intellectual Disability Syndrome, Lubs Type X-linked Intellectual Disability with Isolated Growth Hormone Deficiency X-linked Intellectual Disability with Marfanoid Habitus X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome X-linked intellectual disability-dystonia-dysarthria syndrome X-linked intellectual disability-hypotonia syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked isolated growth hormone deficiency X-linked Juvenile Retinoschisis X-linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-linked Lethal Multiple Pterygium Syndrome X-linked lissencephaly type 1 X-linked Lissencephaly with Abnormal Genitalia X-linked Mandibulofacial Dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod Syndrome X-linked Mendelian Susceptibility to Mycobacterial Diseases X-linked microcephaly syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked Moesin-associated Immunodeficiency X-linked motor neuron disease X-linked Myopathy with Excessive Autophagy X-linked Myopathy with Postural Muscle Atrophy X-linked Myotubular Myopathy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked Neurodegenerative Syndrome, Bertini Type X-linked Neurodegenerative Syndrome, Hamel Type X-linked neurodevelopmental disorder X-linked Non Progressive Cerebellar Ataxia X-linked Non-syndromic Hearing Loss X-linked Non-syndromic Intellectual Disability X-linked Ohdo Syndrome X-linked Osteoporosis with Fractures X-linked parkinsonism X-linked Parkinsonism-Spasticity Syndrome X-linked peripheral neuropathy X-linked pigmentary disorder X-linked Progressive Cerebellar Ataxia X-linked progressive spastic paraplegia X-linked Pure Spastic Paraplegia X-linked Recessive Hypercalciuric Hypophosphatemic Rickets X-linked Recessive Nephrolithiasis X-linked Recessive Ocular Albinism X-linked Reticulate Pigmentary Disorder X-linked retinal dystrophy X-linked Scapuloperoneal Muscular Dystrophy X-linked scapuloperoneal syndrome X-linked Severe Congenital Neutropenia X-linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection X-linked Sideroblastic Anemia X-linked Sideroblastic Anemia with Ataxia X-linked sideroblastic anemia with spinocerebellar ataxia X-linked skeletal dysplasia X-linked Skeletal Dysplasia-Intellectual Disability Syndrome X-linked spastic paraplegia X-linked Spastic Paraplegia Type 16 X-linked Spastic Paraplegia Type 2 X-linked Spastic Paraplegia Type 34 X-linked spasticity syndrome X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome X-linked Spinal and Bulbar Muscular Atrophy X-linked spinal muscular atrophy type 2 X-linked Spinal Muscular Atrophy with Respiratory Distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type X-linked thrombocytopenia X-linked thrombocytopenia syndrome X-linked thrombocytopenia with normal platelets X-linked vascular malformation syndrome Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Xia-Gibbs syndrome XIAP deficiency syndrome XK aprosencephaly syndrome XK syndrome Xp deletion syndrome Xp21 contiguous gene deletion syndrome Xp21 deletion syndrome Xp21 microdeletion syndrome Xp22.13-p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq duplication syndrome Xq12-q13.3 duplication syndrome Xq21 microdeletion syndrome Xq22.3 microdeletion syndrome Xq25 microduplication syndrome Xq25 microtriplication Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome XX, male syndrome XXX syndrome XY gonadal agenesis syndrome XY sex reversal-adrenal failure XY type gonadal dysgenesis-associated anomalies syndrome Xylitol dehydrogenase deficiency XYLT1-CDG XYY Syndrome	Choose Sign
1-alpha-hydroxylase deficiency 10p12p11 microdeletion syndrome 10p13-p14 deletion syndrome 10p15.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11-beta-hydroxysteroid dehydrogenase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 11p11.2 deletion syndrome 11p15.4 microduplication syndrome 11q terminal deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21 microdeletion syndrome 12q24.31 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q22 deletion syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 17q24.2 microdeletion syndrome 18p deletion syndrome 18q deletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1p36.33 duplication syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11.2 deletion syndrome (Velocardiofacial syndrome) 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2A syndrome 2p13.2 microdeletion syndrome 2p14p15 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 contiguous gene deletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2p25.3 microduplication syndrome 2q13 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q31.1 microdeletion syndrome 2q32q33 deletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-M syndrome 3-mercaptopyruvate sulfurtransferase deficiency 3-methylglutaconic aciduria 3-methylglutaconic aciduria epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic aciduria neonatal cataract-neurologic involvement congenital neutropenia syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3MC syndrome 3MG-CoA hydratase deficiency 3p deletion syndrome 3q subtelomere deletion syndrome 3q13 microdeletion syndrome 3q23 microdeletion syndrome 3q26 microduplication syndrome 3q27.1 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microduplication syndrome 3qter deletion syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 45,X/46,XX mosaicism 45,X/46,XX syndrome 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgen excess 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone resistance 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to maternal exposure to endocrine disruptors 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial luteinizing hormone resistance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development due to testosterone synthesis defect 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Abortion - Spontaneous Abruptio Placentae Achlorhydria Acrocephalopolysyndactyly type III (Bixler-Christian-Gorlin syndrome) Acromegaly Actinic lichen planus Acute Myeloid Leukaemia Addison's Disease Adult Still's Disease AIDS Allergic Bronchopulmonary Disease Allergic Reactions Allergic Rhinitis Alpha 1-Antitrypsin Deficiency Alpha Thalassaemia Carrier Alpha Thalassaemia Trait Amyloidosis Anaemia Anaemia - Aplastic Anaphylactoid Reaction - Severe Anencephaly Ankylosing Spondylitis Antley-Bixler Syndrome Aortic Aneurysm Aortic Coarctation Aortic Dilatation Aortic Dissection Aortic Regurgitation Aortic Rupture Aortic Stenosis Aortic Valve Insufficiency Aphasia - Progressive Nonfluent Appendicitis Arteriosclerosis Arthritis Asthma Atelactasis Atrial Septal Defect Atrophic Gastritis Attention Deficit Hyperactivity Disorder (ADHD) Autism B-ALL with t(9;22)(q34.1;q11.2) B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and T-cell anergy disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell lymphoma B-cell NHL B-cell non-Hodgkin lymphoma B-cell prolymphocytic leukemia B-K mole syndrome B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); KMT2A rearranged B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome B4GALT1-CDG B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BACH2-related immunodeficiencyautoimmunity syndrome Bachmann-Bupp syndrome Bacteriaemia Bacterial myositis Bacterial toxic shock syndrome Bader syndrome BAG3-related myofibrillar myopathy Bahemuka-Brown syndrome Bailey-Bloch congenital myopathy Bainbridge-Ropers syndrome Baird syndrome Baker-Gordon syndrome Bakrania-Ragge syndrome Balanced complete atrioventricular canal Balanced partial atrioventricular canal Balantidiasis Balint syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth-Lazarus syndrome Band-like calcification with simplified gyration and polymicrogyria Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Baralle-Macken syndrome Barber-Say syndrome Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome type 2 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome type 5 Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Bartsocas-Papas syndrome Bartter Syndrome Bartter syndrome type 1 Bartter syndrome type 2 Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome with sensorineural hearing loss Basal Cell Carcinoma Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan-Baird syndrome Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Smirin-Yosef syndrome BASIL syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Baughman syndrome Bazex-Dupré-Christol syndrome BCAS3-related neurodevelopmental disorder BCL11B-related neurodevelopmental disorder BCR-ABL1-like B-ALL Beaulieu-Boycott-Innes syndrome Beck-Fahrner syndrome Becker dystrophinopathy Beckwith - Wiedemann Syndrome Bedouin spastic ataxia syndrome Behavioral variant frontotemporal dementia Behcets Syndrome Bell's Palsy Bellini carcinoma Bellini duct carcinoma Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonus epilepsy Benign atrophic papulosis Benign cephalic histiocytosis Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus Benign congenital sixth cranial nerve palsy Benign familial chorea Benign familial infantile epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign hyperferritinemia Benign intracranial hypertension Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign nocturnal alternating hemiplegia of childhood Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 (BRIC2) Bennion-Patterson syndrome Benson syndrome Bent bone dysplasia BENTA disease Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Bernard-Soulier syndrome Berti lymphoma Berylliosis Best macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycan-related limb-girdle muscular dystrophy Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Beta2-microglobulinic amyloidosis Bethlem muscular dystrophy Beukes familial hip dysplasia BH4-responsive phenylketonuria BH4-unresponsive phenylketonuria BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bicervical bicornuate uterus Bickers-Adams syndrome Bickerstaff brainstem encephalitis Biemond syndrome Bietti crystalline dystrophy Bifid femur-monodactylous ectrodactyly syndrome Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria Bilateral striopallidodentate calcinosis Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Biliary Cirrhosis Biliary cystadenocarcinoma Biliary hamartoma Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-induced neurological dysfunction Binder syndrome Biochemical variant galactosemia Biotin-responsive basal ganglia disease Biparietal Alzheimer disease Bipartite talus Bipolar Disorder Birdshot chorioretinopathy Birk-Barel syndrome Bitemporal aplasia cutis congenita Björnstad syndrome Bladder Carcinoma - Squamous Cell Bladder pain syndrome Blake pouch cyst Blakemore-Durmaz-Vasileiou syndrome Blastic plasmacytoid dendritic cell neoplasm Blau syndrome Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to CalDAG-GEFI deficiency Bleeding disorder due to P2Y12 defect Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosis epicanthus inversus syndrome plus (BPES plus) Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-telecanthus-microstomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Blood Vessel Rupture Blount disease Blue colour blindness Blue cone monochromacy Blue diaper syndrome Blue rubber bleb nevus Bockenheimer syndrome Body cavity-based lymphoma Body integrity dysphoria Body integrity identity disorder Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body stalk anomaly Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia-medullary fibrosarcoma syndrome Bone filaminopathy Bone fragility-contractures-arterial rupture-hearing loss syndrome Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Bone marrow failure-diabetes mellitus syndrome Bone necrosis Bone necrosis of genetic origin Bone sarcoma Bonneau syndrome Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borderline vascular neoplasm Borderline vascular tumor Borna virus encephalitis Bornholm eye disease Borrmann gastric cancer type 4 Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Boucher-Neuhäuser syndrome Bowel Obstruction Bowel Rupture Bowen-Conradi syndrome Boyadjiev-Jabs syndrome BPES type 1 BPES type 2 BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Brachial plexus neuritis Brachmann-de Lange syndrome Brachmann-de Lange syndrome type 1 Brachmann-de Lange syndrome type 2 Brachmann-de Lange syndrome type 3 Brachmann-de Lange syndrome type 4 Brachmann-de Lange syndrome type 5 Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B1 Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly, Farabee type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia intellectual disability-heart defects syndrome Brachydactyly-nystagmus cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Bradykinin-induced angioedema Bradyopsia Brailsford disease Brain abnormalities neurodegeneration-dysosteosclerosis disease Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain Abscess Brain Agenesis Brain arteriovenous malformation, nidus type Brain calcification, Rajab type Brain cortical dysplasia Brain dopamine-serotonin vesicular transport disease Brain inflammatory disease Brain malformation due to abnormal neuronal migration Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain Stem Syndrome Brain-lung-thyroid syndrome Branch pulmonary artery stenosis Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial arch or oral-acral syndrome Branchial arch syndrome Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiogenic hearing loss syndrome Branchiootic syndrome Branchiootorenal spectrum disorder Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever Brazilian pemphigus BRE syndrome Breast implant-associated ALCL Breast implant-associated anaplastic large cell lymphoma BRESEK syndrome Bresheck syndrome BRIC BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle cornea syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Brock s Syndrome Brodie abscess Brodie myopathy Brody myopathy Bronchial malformation Bronchial NET Bronchial neuroendocrine tumor Bronchial Obstruction Bronchiectasis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia syndrome Bronchiolitis obliterans syndrome Bronchitis Bronchoesophageal Fistula Bronchogenic carcinoma Bronchopneumonia Bronchopulmonary sequestration Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Sequard's Syndrome BRPF1-related neurodevelopmental disorder Brucella melitensis infection Brucella suis infection Bruck syndrome Brugada Syndrome Brugada syndrome type 1 Brugada syndrome type 2 Brugada syndrome type 3 Brunner syndrome Brunner syndrome type 1 Brunner syndrome type 2 Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Bruton agammaglobulinemia BSEP deficiency Buckley syndrome Budd-Chiari Syndrome Budd-Chiari-like syndrome Buerger-like disease Bulbar Paralysis Bulbospinal muscular atrophy Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous dermolysis of the newborn Bullous diffuse cutaneous mastocytosis Bullous impetigo Bullous lichen planus Bullous pyoderma gangrenosum Bullous systemic lupus erythematosus Buphthalmia Buphthalmos Buphthalmus Burkholderia mallei infection Burkholderia pseudomallei infection Burkitt s Lymphoma Burkitt-like lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff-like syndrome Butterfly vertebrae syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome BWS due to imprinting defect of 11p15 BWS due to paternal uniparental disomy of chromosome 11 Byler disease Byler-like disease Böök syndrome Cancer - Oesophagus Caplan's Syndrome Carcinoma Cardiac Amyloidosis Cardiac Failure Cardiomyopathy Cardiovascular Disease Carnitine palmitoyltransferase I deficiency Carpal Tunnel Syndrome Central Core Disease Cerebral Atrophy Cerebral Haemorrhage Cerebral Infarction Cerebral Palsy Cerebral Vein Thrombosis Cerebritis Cerebrovascular Accident Cervical Lymphadenitis CHARGE Syndrome Cholecystitis Choledochal Cyst Cholestasis Chronic Hepatitis Chronic Myelomonocytic Leukaemia (CMML) Chronic traumatic encephalopathy (Boxer's dementia) Cirrhosis Cleft Lip Cleft Palate CNS - Demyelinating Lesions CNS Haemangioblastoma CNS Parenchymal Disease Coagulopathy Coeliac Disease Colitis Collagen-vascular Diseases Colon - Amoeboma Colon - Obstruction Colon - Perforation Colon - Stricture Colon - Toxic Dilatation Colon - Volvulus Colorectal Cancer Common Bile Duct Obstruction Congenital contractural arachnodactyly (Beals syndrome) Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome type 1, BSCL type 1) Congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome type 2, BSCL type 2) Congenital generalized lipodystrophy type 3 (Berardinelli-Seip syndrome type 3, BSCL type 3) Congenital generalized lipodystrophy type 4, BSCL type 4 Congenital Heart Defect Congenital lipoid adrenal hyperplasia due to STAR deficiency Congestive Cardiac Failure COPD Cor Pulmonale Cord Compression Crohn Disease Crouzon Syndrome CRST Syndrome Cushing's Syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cyclocephaly Cystic Fibrosis Cystic transformation of pancreatic acini D+ HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria Da Silva syndrome DA1 DA10 DA2B DA5D Dabska tumor Dacryocele Dacryocystocele DADA2 Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy - Walker Syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Daneman-Davy-Mancer syndrome Danon disease Dapsone hypersensitivity syndrome Dapsone-induced hemolytic anemia Darbepoetin alfa-induced pure red cell aplasia Darcy disease Darier-like disease Dark skin susceptibility to melanoma Darmstadt syndrome DARS2-related leukoencephalopathy Dasyprocta syndrome Datura poisoning Davis syndrome Dawson disease Day blindness Day blindness with myopia Day blindness, congenital stationary Day blindness, Oguchi type Day blindness, progressive Day blindness, stationary DBA DBS syndrome DCAF17-related syndrome DCHS1-related mitral valve prolapse syndrome DCLRE1C deficiency DCP2-related neurodevelopmental disorder De Barsy syndrome De Grouchy syndrome De Grouchy syndrome type 1 De Grouchy syndrome type 2 De Lange syndrome De Morsier syndrome De Quervain thyroiditis De Sanctis syndrome De Sanctis-Cacchione syndrome Deafness dystonia syndrome Deafness-encephalopathy-fatty liver syndrome Deafness-infertility syndrome Deafness-myopathy syndrome Deafness-nephropathy syndrome Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome Deafness-renal anomalies syndrome Deafness-renal-genital syndrome Deafness-retinitis pigmentosa syndrome Deafness-short stature-facial dysmorphism syndrome Deafness-skeletal anomalies syndrome Deafness-vision impairment syndrome Death cap mushroom poisoning DeBarsy syndrome Decubitus ulcers Dejerine-Roussy syndrome Dejerine-Sottas disease Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p21.3) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(10)(p11.21p12.31) Del(10)(p13p14) Del(10)(p15.3) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q22q23) Del(14)(q32) Del(15)(q11q13) Del(15)(q13.3) Del(15)(q24) Del(15)(q26) Del(16)(p11.2) Del(16)(p13.3) Del(16)(q22) Del(17)(p11.2) Del(17)(p12) Del(17)(p13.3) Del(17)(q12) Del(17)(q21.31) Del(18)(p11.2) Del(18)(q12.2) Del(18)(q21) Del(18)(q23) Del(19)(p13.3) Del(19)(q13.11) Del(2)(p11.2) Del(2)(p16.1) Del(2)(p21) Del(2)(p25) Del(2)(q13) Del(2)(q21q23) Del(2)(q31) Del(2)(q32) Del(2)(q33.1) Del(2)(q37) Del(20)(p12.3) Del(20)(q11.2) Del(20)(q13.11) Del(21)(q21) Del(21)(q22.11) Del(21)(q22.13) Del(21)(q22.2) Del(22)(q11.2) Del(22)(q13) Del(3)(p13) Del(3)(p14) Del(3)(p21.31) Del(3)(p25) Del(3)(q13.31) Del(3)(q21q22) Del(3)(q25) Del(3)(q29) Del(4)(p14) Del(4)(p16) Del(5)(q22) syndrome Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25.2q25.3) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)(q24.3) Del(8)q(13) Del(9)(p13) Del(9)(q21.3) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(X)(p21) Del(X)(p23) Del(X)(q21) Delayed encephalopathy due to carbon monoxide poisoning Delayed membranous cranial ossification Delayed sleep phase syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delleman-Oorthuys syndrome Delpire-McNeill syndrome Delta granule disease Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-aminolevulinic acid dehydratase deficiency porphyria Delta-storage pool disease Demyelinating Charcot-Marie-Tooth disease Demyelinating neuropathy-central dysmyelination-Waardenburg syndrome Demyelinating polyneuropathy with deafness and cranial nerve involvement Demyelinating sensorimotor neuropathy Demyelination with brain stem and spinal cord involvement and lactate elevation Dengue Haemorrhagic Fever - DHF Dengue hemorrhagic fever Dengue Shock Syndrome - DSS Dens invaginatus Dense deposit disease Dentatorubral-pallidoluysian atrophy Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta Denture stomatitis Denys-Drash syndrome Deoxyguanosine kinase deficiency Deoxyribose phosphate aldolase deficiency Depersonalization-derealization disorder Deprenyl-associated psychosis Depression with psychotic features Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(22)t(11;22) syndrome Der(8)t(8;12) Dercum disease Dermal hypoplasia focal Dermal sinus tract Dermatillomania Dermatitis granulomatous interstitial Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermatostomatitis, Stevens Johnson type Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermoid or epidermoid cyst of the central nervous system Dermolytic epidermolysis bullosa Dermoodontodysplasia Dermotrichic syndrome DES embryofetopathy DES syndrome Desanto-Shinawi syndrome Desbuquois dysplasia DESC syndrome Desert fever Desert rheumatism Desmin-related myopathy Desmoid tumor Desmoplastic infantile astrocytoma Desmoplastic melanoma Desmoplastic small round cell tumor Desmosterolosis Desquamative interstitial pneumonia Developmental and epileptic encephalopathy due to GRIN1 mutation Developmental and epileptic encephalopathy due to SCN1A mutation Developmental and epileptic encephalopathy due to STXBP1 mutation Developmental delay with hypotonia and facial dysmorphism Developmental delay with microcephaly and seizures Developmental dysplasia of the hip Developmental encephalopathy with epilepsy Developmental regression-intellectual disability syndrome Dextrocardia with situs inversus Dextroposition of the heart Dextrotransposition of the great arteries Diabetes insipidus Diabetes Insipidus Diabetes insipidus, central Diabetes insipidus, nephrogenic Diabetes Mellitus Diabetes mellitus due to insulin receptor deficiency Diabetes mellitus due to mitochondrial DNA mutation Diabetes mellitus due to pancreatic agenesis Diabetes mellitus, permanent neonatal Diabetic Ketoacidosis Dialysis-related amyloidosis Dialysis-related arthropathy Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic or abdominal wall malformation Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Dias-Logan syndrome Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diastrophic dysplasia variant Diastrophic dysplasia-limb shortening syndrome Diastrophic dysplasia-micrognathia syndrome Diastrophic dysplasia-vertebral anomalies syndrome Diastrophic-like dysplasia Diastrophic-like dysplasia with joint contractures Diastrophic-like dysplasia with vertebral anomalies Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Dicarboxylic aminoaciduria DICER1 tumor-predisposition syndrome Didelphys uterus DIDMOAD syndrome DIDOD Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Dietary iron overload disease Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Diets-Jongmans syndrome Difference of sex development Difference of sex development of gynecological interest Difference of sex development-intellectual disability syndrome Diffuse alveolar hemorrhage Diffuse capillary malformation with overgrowth Diffuse cutaneous mastocytosis Diffuse dermal angiomatosis Diffuse esophageal leiomyomatosis Diffuse gastric cancer, hereditary Diffuse idiopathic skeletal hyperostosis Diffuse infantile hepatic hemangioma Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the CNS Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse panbronchiolitis Diffuse pulmonary lymphangiomatosis Diffuse scleroderma Diffuse systemic sclerosis Diffuse Unilateral Subacute Neuroretinitis Diffuse vascular malformation syndrome Diffuse white matter abnormality with spasticity and dementia Diffuse white matter disease with axonal spheroids Diffuse-type tenosynovial giant cell tumor Digital clubbing Digital fibromatosis, infantile Digital ulcers in systemic sclerosis Dihydropteridine reductase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DILE DiMauro disease Dimethylglycine dehydrogenase deficiency Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphyllobothriasis Diplomyelia Diplophthalmia Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Discoid lupus erythematosus Discoid lupus erythematosus, familial Discoid meniscus Disconnection syndrome Discontinuous splenogonadal fusion Discrepant atrioventricular connections Diseminated superficial actinic porokeratosis Dishevelled hair syndrome Disinhibition-dementia-parkinsonism-amyotrophy complex Dislocation of the patella, congenital Disorders of biopterin metabolism Disorders of cobalamin metabolism Disorders of creatine metabolism Disorders of fructose metabolism Disorders of galactose metabolism Disorders of glycine metabolism Disorders of lysine metabolism Disorders of mitochondrial DNA maintenance Disorders of proline metabolism Disorders of serine metabolism Disorders of sulfur metabolism Disorders of tetrahydrobiopterin metabolism Disorders of tyrosine metabolism Disorders of valine metabolism Disseminated actinic granuloma Disseminated adenovirus infection Disseminated Intravascular Coagulation Disseminated peritoneal leiomyomatosis Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal anoctaminopathy Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 10p syndrome Distal deletion 10q syndrome Distal deletion 12p syndrome Distal deletion 12q syndrome Distal deletion 13q syndrome Distal deletion 14q syndrome Distal deletion 15q syndrome Distal deletion 17q syndrome Distal deletion 19p syndrome Distal deletion 1q syndrome Distal deletion 3p syndrome Distal deletion 4p Distal deletion 4q syndrome Distal deletion 6p syndrome Distal deletion 6p25 Distal deletion 7p syndrome Distal deletion 7q36 Distal deletion 9p syndrome Distal dup(22)(q11.2) Distal dup(7)(q11.23) Distal dup(X)q(28) Distal duplication 10q syndrome Distal duplication 11q syndrome Distal duplication 13q syndrome Distal duplication 14q syndrome Distal duplication 15q syndrome Distal duplication 16p Distal duplication 16q syndrome Distal duplication 17q syndrome Distal duplication 18q syndrome Distal duplication 19q syndrome Distal duplication 1p36 syndrome Distal duplication 20q syndrome Distal duplication 22q syndrome Distal duplication 2p syndrome Distal duplication 2q syndrome Distal duplication 3p syndrome Distal duplication 4p syndrome Distal duplication 4q syndrome Distal duplication 5q syndrome Distal duplication 6p syndrome Distal duplication 6q syndrome Distal duplication 7p syndrome Distal duplication 8p syndrome Distal duplication 8q syndrome Distal duplication 9p syndrome Distal duplication 9q syndrome Distal hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 Distal hereditary motor neuropathy type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal Intestinal Obstruction Syndrome Distal myopathy Distal myopathy type 1 Distal myopathy type 2 Distal myopathy type 3 Distal myopathy type 4 Distal myopathy type 5 Distal trisomy 22q11.2 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy Xq28 Distal-HMN type 6 Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK phocomelia syndrome DK1-CDG DKC DLBCL of the CNS DLG3-related intellectual disability DLX5-related split hand-foot malformation DM1 DM2 DMDD DMGDH deficiency DMPK-related myotonic dystrophy DNA repair disorder with growth deficiency (Bloom syndrome) DNM2-related centronuclear myopathy DNMT3A overgrowth syndrome DNMT3A-related intellectual disability syndrome DOCK2 deficiency DOCK8 deficiency Dolichocephaly Dolichol kinase deficiency Dolichyl-phosphate-mannose synthase 1 deficiency Dolichyl-phosphate-mannose synthase 2 deficiency Dolichyl-phosphate-mannose synthase 3 deficiency Dolichyl-phosphate-mannose synthase deficiency Dolichyl-phosphate-mannose synthase deficiency-dystroglycanopathy syndrome Dolly syndrome Dominant beta-thalassemia Dominant drusen Dominant dystrophic epidermolysis bullosa Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant optic atrophy Dominant optic atrophy plus syndrome Dominant optic atrophy with cataract Dominant optic atrophy with deafness Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome DONSON-related microcephaly-short stature-limb abnormalities spectrum DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dopamine transporter deficiency syndrome Dorfman-Chanarin syndrome Dorsal spinal cord lipoma Double A syndrome Double discordance Double inlet atrioventricular connection Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Down syndrome due to mosaic trisomy 21 Down syndrome due to translocation Down syndrome with acute lymphoblastic leukemia Down syndrome with acute myeloid leukemia Down syndrome with transient myeloproliferative disorder Dravet syndrome Dreifuss muscular dystrophy Drepanocytosis DRESS syndrome Drinking water-associated arsenic toxicity Drooling-choreoathetosis syndrome Drop attacks DRPLA Drug reaction with eosinophilia and systemic symptoms Drug-induced agranulocytosis Drug-induced aseptic meningitis Drug-induced autoimmune hemolytic anemia Drug-induced autoimmune thrombocytopenia Drug-induced cholestasis Drug-induced eosinophilia Drug-induced hypersensitivity syndrome Drug-induced immune thrombocytopenia Drug-induced interstitial lung disease Drug-induced lupus erythematosus Drug-induced myopathy Drug-induced pancreatitis Drug-induced parkinsonism Drug-induced photosensitivity Drug-induced pneumonitis Drug-induced pruritus Drug-induced QT prolongation Drug-induced thrombocytopenia Drug-induced vasculitis Dry eye syndrome, severe congenital Dry scalp syndrome Dubowitz syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy with cardiomyopathy Duchenne muscular dystrophy, female carrier Ductal plate malformation Duodenal duplication Duodenal obstruction Dysostosis Multiplex Eales disease Ear Infections Ear-patella-short stature syndrome Early infantile developmental and epileptic encephalopathy Early onset familial encephalopathy with neuroserpin inclusion bodies Early onset non-syndromic cataract Early onset progressive leukoencephalopathy central nervous system calcification hearing loss visual impairment syndrome Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Early-onset autosomal recessive TTN-related distal myopathy Early-onset benign childhood occipital epilepsy Early-onset calcifying leukoencephalopathy skeletal dysplasia Early-onset cerebellar ataxia with retained tendon reflexes Early-onset citrullinemia type 1 Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy intellectual disability brain anomalies syndrome Early-onset familial hyperreninemic hypoaldosteronism Early-onset generalized torsion dystonia Early-onset idiopathic chronic pancreatitis Early-onset Lafora body disease Early-onset obesity-hyperphagia severe developmental delay syndrome Early-onset Parkinson disease Early-onset parkinsonism intellectual disability syndrome Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindness-ataxia spasticity syndrome Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to AP3D1 deficiency Early-onset severe retinal dystrophy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome East Texas bleeding disorder Eastman-Bixler syndrome Eating reflex epilepsy EBV-associated gastric carcinoma EBV-associated lymphoproliferative disorder EBV-associated mesenchymal tumor EBV-induced lymphoproliferative disease due to CARMIL2 deficiency EBV-induced lymphoproliferative disease due to CD70 deficiency EBV-induced lymphoproliferative disease due to CTPS1 deficiency EBV-induced lymphoproliferative disease due to PRKCD deficiency EBV-induced lymphoproliferative disease due to RASGRP1 deficiency EBV-positive diffuse large B-cell lymphoma Eccrine angiomatous hamartoma Ectasia of the left atrial appendage Ectasia of the right atrial appendage Ectasic coloboma Ectodermal dysplasia Ectodermal dysplasia Berlin type Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth Ectodermal dysplasia with natal teeth Turnpenny type Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic neurohypophysis Eczema Encephalitis - Diffuse Encephalitis - Focal Encephalomyelitis Encephalopathy Endocarditis Endometrial Neuroendocrine Tumour Endophthalmitis Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy Enteropathy-associated T-cell lymphoma Enthesitis-related juvenile idiopathic arthritis Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic cystitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granulomatosis with polyangiitis Ependymoma EPHB4-related capillary malformation-arteriovenous malformation EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis Epiblepharon Epibronchial right pulmonary vein syndrome Epicardial coronary artery fibromuscular dysplasia Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermal nevus syndrome (Becker nevus syndrome) Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with nephropathy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic palmoplantar keratoderma Epididymo-Orchitis Epignathus Epilepsia partialis continua Epilepsy Epilepsy of infancy with migrating focal seizures Epilepsy with auditory features Epilepsy with eyelid myoclonia Epilepsy with generalized tonicclonic seizures alone Epilepsy with myoclonic absences Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with spike-and-wave activation in sleep Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelial tumor of anal canal Epithelial tumor of the appendix Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature Equinia Erdheim-Chester disease ERF-related syndromic craniosynostosis Erosive pustular dermatosis of the scalp Erysipelas Erythema elevatum diutinum Erythema multiforme major Erythema palmare hereditarium Erythematous Candida Erythrocyte GALE deficiency Erythrocyte lactate transporter defect Erythrodermic ichthyosis Erythrokeratoderma variabilis progressiva Erythrokeratoderma with ataxia Erythrokeratodermia-cardiomyopathy syndrome Erythroleukemia Escher-Hirt syndrome Escobar syndrome Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction Esophageal atresia with or without trachea-esophageal fistula Esophageal squamous cell carcinoma Essential mixed cryoglobulinemia Estrogen resistance syndrome Ethylene glycol poisoning Ethylmalonic encephalopathy Euhidrotic ectodermal dysplasia Euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dystransthyretinemic hyperthyroxinemia Euthyroid Graves orbitopathy EVEN-plus syndrome Excess breast volume or number Excretory apparatus of the lacrimal system anomaly Exencephaly Exercise intolerance with lactic acidosis Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermia-brachydactyly type E syndrome Exposure-related interstitial lung disease Exstrophy-epispadias complex Extensive venous malformation External auditory canal aplasia/hypoplasia Extra-adrenal aldosterone-producing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germ cell tumor Extragonadal germinoma Extragonadal non-dysgerminomatous germ cell tumor Extragonadal teratoma Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraskeletal myxoid chondrosarcoma Extrathoracic heart Extraventricular neurocytoma Extremity fibromuscular dysplasia Extrinsic Allergic Alveolitis Eye-brow duplication-syndactyly syndrome EZH2-related overgrowth syndrome F syndrome F12-related hereditary angioedema with normal C1 inhibitor FACES syndrome Facial cleft Facial dermoid cyst Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism hypertrichosis-epilepsy-intellectual disability-developmental delay-gingival overgrowth syndrome Facial dysmorphism macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-anorexia cachexia-eye and skin anomalies syndrome Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy Facial dysmorphism-global developmental delay-hypotoniapolymicrogyria syndrome Facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities spontaneous filtering blebs syndrome Facial dysmorphism-ocular anomalies-osteopenia-intellectual disabilitydental anomalies syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial granuloma of Lever Facial hemispasm Facial infiltrating lipomatosis Facial nerve palsy due to varicella zoster virus Facial neuralgia Facial onset sensory and motor neuronopathy Facio-audio-symphalangism syndrome Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary dissociation Facio-pharyngo-glosso-masticatory diplegia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Factor IX deficiency, Leyden type Factor V Amsterdam bleeding disorder Factor V and Factor VIII combined deficiency Factor V Atlanta bleeding disorder Factor V East Texas bleeding disorder Factor V Quebec Factor V short isoforms-related bleeding disorder FADD-related immunodeficiency FAH deficiency FAHN Fallot complex-intellectual disability-growth delay syndrome Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adrenal hypoplasia Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type IV Familial Amyloid Syndromes Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial APOA5 deficiency Familial apoC-II deficiency Familial apolipoprotein A-V deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial articular hypermobility syndrome Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial breast cancer Familial breast carcinoma Familial calcium pyrophosphate deposition disease Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CD8 deficiency Familial cerebral amyloid angiopathy Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial chilblain lupus Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold autoinflammatory syndrome type 4 Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer type X Familial congenital contralateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial continuous skin peeling syndrome Familial cortical myoclonic tremor and epilepsy Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cylindromatosis Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dyslipidemia type 3 Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial gigantiform cementoma Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type 4 Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinsulinemic hypoglycemia Familial hyperinsulinism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperphosphatemic tumoral calcinosis Familial hyperprolactinemia Familial hyperthyroidism due to TSH receptor mutation Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial idiopathic steroidresistant nephrotic syndrome Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation Familial intestinal polyposis Familial intracranial saccular aneurysm Familial intrahepatic cholestasis Familial intraosseous vascular malformation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form Familial isolated arrhythmogenic ventricular dysplasia, right-dominant form Familial isolated café-au-lait macules Familial isolated café-au-lait spots Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated retinal arteriolar tortuosity Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial macular edema Familial median cleft of the upper and lower lips Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy Familial mitral valve prolapse Familial monosomy 7 syndrome Familial multinodular goiter Familial multiple cutaneous leiomyomas Familial multiple discoid fibromas Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichodiscomas Familial multiple trichoepithelioma Familial nasal acilia Familial non-immune hyperthyroidism Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial nonmedullary thyroid carcinoma Familial nonpolyposis colorectal cancer Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteonecrosis of femoral head Familial pancreatic cancer Familial papillary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial partial epilepsy Familial partial epilepsy with variable foci Familial partial lipodystrophy Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial pelvis-scapular dysplasia Familial peripheral male-limited precocious puberty Familial pheochromocytomaparaganglioma Familial platelet disorder with associated myeloid malignancy Familial platelet disorder with predisposition to acute myeloid leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial porencephaly Familial porphyria cutanea tarda Familial primary hyperparathyroidism Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma Familial prion disease Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive subcortical gliosis Familial prostate cancer Familial pseudohyperkalemia Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain syndrome Familial recurrent arthritis Familial recurrent Bell palsy Familial renal amyloidosis Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial renal hypouricemia Familial retinal arterial macroaneurysm Familial scaphocephaly syndrome Familial scaphocephaly-radioulnar synostosis syndrome Familial schizencephaly Familial spastic paraplegia Familial spontaneous pneumothorax Familial startle disease Familial syringomyelia Familial systemic lupus erythematosus Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and dissection Familial thrombocythemia Familial thrombocytosis Familial thyroglossal duct cyst Familial transthyretin-related amyloidosis Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial woolly hair syndrome Fanconi Syndrome Fanconi-Bickel syndrome FAR1 deficiency Fara-Chlupackova syndrome Fara-Chlupackova syndrome type 1 Fara-Chlupackova syndrome type 2 Farber disease Fasciolopsiasis Fast-channel congenital myasthenic syndrome Fast-flow vascular malformation FASTKD2-related infantile mitochondrial encephalomyopathy Fatal Familial Insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile hypertonic myofibrillar myopathy Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal pontocerebellar hypoplasiahypotonia-respiratory insufficiency syndrome Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation disorder with cardiomyopathy Fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 superactivity Faulk-Epstein-Jones syndrome Favism FBLN1-related developmental delay-central nervous system anomalysyndactyly syndrome FBPase deficiency Febrile infection-related epilepsy syndrome Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Felty's Syndrome Female adnexal tumor of probable Wolffian origin Female infertility due to implantation defect of genetic origin Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome Femur-fibula-ulna complex Femur-fibula-ulna syndrome Fenestrae parietales symmetricae Fenton-Wilkinson-Toselano syndrome Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acetylcholine receptor antibody-related disorder Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal Alcohol Syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal anticonvulsant syndrome Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal Death Fetal Distress in Labour Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal iodine syndrome Fetal lower urinary tract obstruction Fetal lung interstitial tumor Fetal methylmercury poisoning Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fetal valproate syndrome Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathy Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children Fibro-adipose vascular anomaly Fibroblastic rheumatism Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrolamellar hepatocellular carcinoma Fibrolipomatous filum terminale anomaly Fibroma-like epithelioid sarcoma Fibromuscular dysplasia Fibromuscular dysplasia of cervical and intracranial arteries Fibromuscular dysplasia of renal arteries Fibromuscular dysplasia of the arteries of the extremities Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing Alveolitis Fibrosing mediastinitis Fibrotic hypersensitivity pneumonitis Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Filamin A-related X-linked myxomatous valvular dysplasia Filamin C-related myofibrillar myopathy Filamin-related bone disorder Filariasis Filippi syndrome FILS syndrome FINCA syndrome Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hidradenoma Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed drug eruption Fixed subaortic stenosis FKBP14-related Ehlers-Danlos syndrome FKRP-related limb-girdle muscular dystrophy FKTN-related congenital muscular dystrophy Fleck corneal dystrophy Flegel disease FLNA-related valvular dystrophy FLNC-related distal myopathy Floating-Harbor syndrome Floppy Valve Syndrome Florid cemento-osseous dysplasia Flow limitation in the iliac artery Fluctuating myotonia Flynn-Aird syndrome Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal facial dermal dysplasia Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type 2 Focal facial dermal dysplasia type 3 Focal facial dermal dysplasia type 4 Focal intestinal perforation Focal myositis Focal nodular myositis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Focal segmental glomerulosclerosis (FSGS) Focal stiff-person syndrome Fogo selvagem Foix-Chavany-Marie syndrome Folate Deficiency Folate receptor alpha deficiency Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Folliculotropic mycosis fungoides Fontaine progeroid syndrome Fontan-associated liver disease Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome FOSL2-related neurodevelopmental disorder FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler urethral sphincter dysfunction syndrome Fowler vasculopathy Fowler-Christmas-Chapple syndrome FOXG1 syndrome FOXG1 syndrome due to 14q12 microdeletion FOXG1 syndrome due to intragenic alteration FOXG1-related epileptic-dyskinetic encephalopathy FOXP1 syndrome FOXP2-associated speech and language disorder Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor-ataxia syndrome Fragile X-associated tremor/ataxia syndrome Fragoso-Cantú syndrome Franceschetti Oculodigital Sign Franceschetti-Klein syndrome François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Frank-Ter Haar syndrome Fraser syndrome Frasier syndrome FRAXE intellectual disability Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Burian syndrome Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freiberg disease Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frey syndrome Fried syndrome Fried tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia type 1 Frontonasal dysplasia type 2 Frontonasal dysplasia type 3 Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopeciagenital anomalies syndrome Frontonasal dysplasia-bifid noseupper limb anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Fructose-1,6-diphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly syndrome Fryns microphthalmia syndrome Fryns-Hofkens-Fabry syndrome Fucosidosis type I and II Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuhara syndrome Fukutin-related limb-girdle muscular dystrophy Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarylacetoacetase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblE Functioning gonadotropic adenoma Functioning pancreatic neuroendocrine tumor Functioning pituitary adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal keratitis Fungal myositis Furukawa-Takagi-Nakao syndrome Furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Dermatobia hominis Fusariosis Fused mandibular incisors Fusion of metacarpals 4 and 5 Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI Gerstmann-Sträussler-Scheinker disease GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gonadal Dysgenesis Gout Guillain Barre Syndrome Gyrate Atrophy H syndrome H syndrome-like disorder H-ABC H-type tracheoesophageal fistula H1-4-related neurodevelopmental disorder HA20-related monogenic Behcet-like disease Haberland syndrome Haddad syndrome Hadziselimovic syndrome Haemochromatosis Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Haemoglobin E disease Haemoglobin H Disease Haemoglobin H-Constant Spring disease Haemoglobin Lepore syndrome Haemoglobin M-Hyde Park disease Haemoglobin S/D Punjab disease Haemoglobin S/O-Arab disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Haemorrhagic septicemia due to Capnocytophaga canimorsus HAFOUS HAFOUS due to USP7 mutation Hailey-Hailey disease Haim-Munk syndrome Hair-nail ectodermal dysplasia Hairy Cell Leukaemia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome HaNDL syndrome Hanhart syndrome Hanot syndrome Hantavirosis Hantavirus pulmonary syndrome Hao-Fountain syndrome HAPE Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome Hard flaccid syndrome Hardikar syndrome Harding disease Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disorder Hartnup syndrome with pellagra-like rash Hashimoto encephalopathy Hashimoto thyroiditis with encephalopathy Hashimoto-Pritzker syndrome Haspeslagh syndrome Haspeslagh-Fryns-Muelenaere syndrome HbS-Lepore disease HbS-O Arab disease HbS-other specified hemoglobin variant disease HbSD disease HbSE disease HBSL HCD HCDD HCFC1-related disorder HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HD-HA syndrome HDFN HDL1 HDL2 HDL3 HDLS HDR syndrome HDV Head and neck neuroendocrine carcinoma Head and neck paraganglioma Head and neck squamous cell carcinoma, rare hereditary form Headache syndrome due to glycine receptor autoimmunity Healing palmoplantar keratoderma Hearing impairment-cataract-retinal degeneration syndrome Hearing impairment-early graying syndrome Hearing impairment-intellectual disability syndrome Hearing impairment-macular degeneration syndrome Hearing impairment-retinitis pigmentosa syndrome Hearing impairment-thrombocytopenia syndrome Hearing loss with labyrinthine aplasia, microtia, and microdontia Hearing loss-amelogenesis imperfecta syndrome Hearing loss-cardiomyopathy syndrome Hearing loss-cataract syndrome Hearing loss-craniofacial syndrome Hearing loss-epilepsy syndrome Hearing loss-familial salivary gland insensitivity syndrome Hearing loss-hyperopia-clinodactyly syndrome Hearing loss-intellectual disability syndrome, Mariner type Hearing loss-myopia-intellectual disability syndrome Hearing loss-nephritis syndrome Hearing loss-onychodystrophy syndrome Hearing loss-renal disease syndrome Hearing loss-short stature syndrome Hearing loss-vertebral anomalies syndrome Hecht syndrome Hecht-Beals syndrome Heerfordt syndrome Heimler syndrome Heinz body anemia Helicobacter pylori infection Helicobacter pylori-associated gastric carcinoma Heller myopathy HELLP syndrome Helmholtz syndrome Helminthiasis, rare forms Hemangioblastoma Hemangioma, capillary Hemangioma, cavernous Hemangioma, infantile Hemangiomatosis, diffuse neonatal Hemangiopericytoma Hemeralopia-congenital cataract syndrome Hemeralopia-myopia-color blindness-deafness syndrome Hemeralopia-recurrent respiratory infections syndrome Hemiballismus Hemicrania continua Hemifacial microsomia Hemifacial spasm Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly Hemimelic epiphyseal dysplasia Hemiparkinsonism-hemiatrophy syndrome Hemiplegia migraine, familial Hemispheric cerebral agenesis-hypoplasia syndrome Hemochromatosis (Bronze diabetes) Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin M disease Hemoglobin S-beta-thalassemia syndrome Hemoglobin SC disease Hemoglobinopathy due to unstable hemoglobin Hemoglobinopathy Toms River type Hemolytic uremic syndrome with complement factor H deficiency Hemolytic uremic syndrome with complement factor I deficiency Hemolytic uremic syndrome with membrane cofactor protein deficiency Hemolytic uremic syndrome, atypical Hemolytic uremic syndrome, typical Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, secondary Hemophilia C Hemorrhagic cystitis Hemorrhagic disease of the newborn Hemorrhagic shock and encephalopathy syndrome Hemorrhagic stroke due to cerebral amyloid angiopathy Hemorrhagic telangiectasia, cerebral form Hemorrhagic telangiectasia, cutaneous form Hemorrhagic telangiectasia, hepatic form Hemorrhagic telangiectasia, pulmonary form Henoch-Schonlein Purpura Henoch-Schonlein purpura nephritis HEPACAM-related megalencephalic leukoencephalopathy Hepatic adenoma, familial Hepatic epithelioid hemangioendothelioma Hepatic Failure Hepatic glycogen storage disease due to glycogen synthase deficiency Hepatic hemangioma Hepatic lipase deficiency Hepatic mesenchymal hamartoma Hepatic steatosis due to lipodystrophy Hepatic Vein Thrombosis Hepatic veno-occlusive disease with immunodeficiency Hepaticorectal fistula Hepatitis Hepatitis B virus-associated polyarteritis nodosa Hepatitis C virus-associated mixed cryoglobulinemia Hepatitis delta Hepatocele Hepatocellular Carcinoma Hepatocerebral form of mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Hepatocutaneous syndrome Hepatolenticular degeneration Hepatopulmonary syndrome Hepatorenal Failure Hephaestin-related iron transport disease Hereditary acral reticulate pigmentary disorder Hereditary acrokeratotic poikiloderma Hereditary amyloidosis, Finnish type Hereditary amyloidosis, transthyretin-related Hereditary congenital facial paresis Hereditary diffuse gastric cancer Hereditary fibrosing poikiloderma with tendon contractures Hereditary folate malabsorption Hereditary gingival fibromatosis Hereditary hyperekplexia Hereditary hyperferritinemia-cataract syndrome Hereditary inclusion body myopathy Hereditary isolated aplastic anemia Hereditary isolated MTC Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis and renal cell cancer Hereditary Lev-Lenègre disease Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy, Okinawa type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary nephrotic syndrome Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neurogenic diabetes insipidus Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary nonpolyposis colorectal cancer Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary optic neuropathy Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary papillary renal cell carcinoma Hereditary PCCD Hereditary periodic fever syndrome Hereditary periodic fever syndromes Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pituitary hyperplasia Hereditary poikiloderma Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary pseudocholinesterase deficiency Hereditary pseudohaemophilia Hereditary pulmonary alveolar proteinosis Hereditary pulmonary arterial hypertension Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to DNMT1 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with dementia and hearing loss Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary SI-NET Hereditary sick sinus syndrome Hereditary sodium channelopathy-related small fiber neuropathy Hereditary steroid-resistant nephrotic syndrome Hereditary stomatocytic disease Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelodysplasia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defects Hereditary transthyretin amyloid polyneuropathy Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary xerocytosis Heredopathia atactica polyneuritiformis Herlyn-Werner-Wunderlich syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes labialis Herpes simplex virus encephalitis Herpes simplex virus stromal keratitis Herpetiform pemphigus Hers disease Herva disease Heterozygous microdeletion 17p11.2p12 HEXA disorder, adult form HEXA disorder, infantile form HEXA disorder, juvenile form Hexosaminidase activator deficiency Heyn-Sproul-Jackson syndrome High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/or BCL2 and/or BCL6 rearrangements High myopia-sensorineural deafness syndrome Hilar cholangiocarcinoma Hippocampal memory defect leukoencephalopathy Hippocampal sclerosis-related mesial temporal lobe epilepsy Hirayama disease Hirschsprung disease and intellectual disability due to MED13L deficiency Hirschsprung disease and intellectual disability due to ZEB2 deficiency Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome His bundle tachycardia Histidinuria-renal tubular defect syndrome Histiocytic and dendritic cell tumor Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histiocytosis X HITT HIV-associated cancer HJMD HLHS HMC syndrome HMG-CoA lyase deficiency HMG-CoA synthase deficiency HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF1B-related nephropathy HNRNPA1-related adult-onset distal myopathy HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH2-related neurodevelopmental disorder HNRNPK-related neurodevelopmental disorder HNRNPR-related neurodevelopmental disorder HNRPH1-related neurodevelopmental disorder HO-1 deficiency Hobnail hemangioma HOD Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome Hoffmann syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Collins syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holohemispheric giant cerebral arteriovenous malformation Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocystinuria Homocystinuria due to CBS deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous 2p21 microdeletion syndrome Homozygous alpha0-thalassemia Homozygous beta-thalassemia Homozygous delta-beta thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia due to APOB deficiency Homozygous familial hypercholesterolemia due to LDLR deficiency Homozygous familial hypercholesterolemia due to PCSK9 deficiency Homozygous hemoglobin C disease Homozygous hemoglobin D disease Homozygous hemoglobin E disease Homozygous hemoglobin Lepore syndrome Homozygous hemoglobin O Arab disease Homozygous hemoglobin O-Arab disease Homozygous hemoglobin S disease Homozygous hypobetalipoproteinemia Homozygous protein C deficiency Homozygous protein S deficiency Homozygous variegate porphyria Honey-droplet corneal dystrophy Honeycomb corneal dystrophy HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horner Syndrome Hornstein-Knickenberg syndrome Hot water reflex epilepsy Houge-Janssens syndrome-1 Houlston-Ironton-Temple syndrome Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPDL-related Leigh-like encephalopathy HPRT complete deficiency HPRT deficiency HPRT partial deficiency HPS10 HPS2 HRD syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related cerebral small vessel disease Hughes-Stovin syndrome Human herpesvirus 8-related disorder Human herpesvirus-8-associated multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Human infection by orthopoxvirus Human prion disease Humerus trochlea aplasia Hunter-Jurenka-Thompson syndrome Hunter-McAlpine syndrome Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington disease phenocopy due to C9ORF72 expansion Huntington disease phenocopy syndrome Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huppke-Brendel syndrome HUPRA syndrome Huriez syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome Hyaline body myopathy Hyaline fibromatosis syndrome Hyaline membrane disease Hyaline ring granuloma Hyalinosis cutis et mucosae Hyaluronidase 2 deficiency Hyaluronidase deficiency Hybrid acute leukemia Hybrid peripheral nerve sheath tumor Hydatid disease Hydatidiform mole Hydatidiform mole, biparental recurrent form Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydranencephaly with abnormal genitalia Hydrargyria Hydroa vacciniforme Hydroa vacciniforme-like lymphoproliferative disorder Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Hydrocephalus with hop gait, abducens palsy and psychomotor retardation Hydrocephalus with obesity, hypogonadism, and retinal dystrophy Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue sclera-nephropathy syndrome Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-tall stature-joint laxity-kyphoscoliosis syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vascular anomaly Hydrolethalus syndrome 2 Hydrometrocolpos-polydactyly syndrome Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops Fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystem failure syndrome Hydroxyacyl-CoA dehydrogenase trifunctional protein deficiency Hydroxykynureninuria Hydroxymethylglutaric aciduria Hydroxymethylglutaryl-CoA lyase deficiency Hydroxysteroid dehydrogenase deficiency, isolated Hygroma colli Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome, autosomal recessive Hyper-IgM syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome type 6 Hyper-IgM syndrome type 7 Hyperalaninemia Hyperaldosteronism Hyperammonemia Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperargininemia due to arginase deficiency Hyperbilirubinemia due to Crigler-Najjar syndrome type 2 Hyperbilirubinemia due to Gilbert syndrome Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcaemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholanemia, familial Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HyperCKemia with myalgia HyperCKemia, idiopathic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercontractile muscle stiffness syndrome Hyperdibasic aminoaciduria Hyperekplexia with apnea Hyperekplexia, hereditary major form Hyperekplexia, hereditary minor form Hyperekplexia-epilepsy syndrome Hypereosinophilic obliterative bronchiolitis Hypereosinophilic syndrome with idiopathic eosinophilia Hyperexplexia due to glycine receptor deficiency Hyperferritinemia with cataract Hyperglycerolemia Hyperglycinuria Hyperglycinuria due to iminoglycinuria syndrome Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-hearing loss-ataxia syndrome Hypergonadotropic hypogonadism-retinitis pigmentosa syndrome Hypergonadotropic ovarian dysgenesis Hyperimidodipeptiduria Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycaemia Hyperinsulinism due to ABCC8 deficiency Hyperinsulinism due to AKT2 deficiency Hyperinsulinism due to CACNA1D deficiency Hyperinsulinism due to exercise-induced monocarboxylate transporter 1 expression Hyperinsulinism due to FOXA2 deficiency Hyperinsulinism due to GCK deficiency Hyperinsulinism due to GLUD1 deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HK1 deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to KCNJ11 deficiency Hyperinsulinism due to mitochondrial glutamate carrier deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to phosphoglucomutase 1 deficiency Hyperinsulinism due to PMM2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to TRMT10A deficiency Hyperinsulinism due to UCP2 anomaly Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism-hyperammonemia due to GLUD1 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkeratosis congenita Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans of Flegel Hyperkeratosis palmoplantaris striata varians Hyperkeratosis-hyperpigmentation syndrome Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermobile Ehlers-Danlos syndrome Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpigmentation of the skin Hyperprolinemia type 1 Hyperprolinemia type 2 Hypersarcosinemia Hypersensitivity pneumonitis Hypersensitivity vasculitis Hypertelorism-hypospadias syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertension due to gain-of-function mutations in MR Hyperthyroidism Hypertrichosis cubiti Hypertrichosis lanuginosa acquisita Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichosis-pigmentary retinopathy-facial anomalies syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy due to mitochondrial disease Hypertrophic cardiomyopathy with kidney anomalies and limb defects syndrome Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of Dejerine-Sottas Hypertrophic olivary degeneration Hypertrophic or verrucous lupus erythematosus Hypertrophic osteoarthropathy, primary Hypertrophic pyloric stenosis Hypertrophic spinal pachymeningitis Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure syndrome Hyperviscosity Syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retardation syndrome Hypoadrenalism Hypoalphalipoproteinemia Hypobetalipoproteinemia due to ANGPTL3 deficiency Hypobetalipoproteinemia-chylomicron retention disease syndrome Hypocalcemic seizures-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypocalciuric hypercalcemia, familial Hypochondrogenesis Hypocomplementemic urticarial vasculitis Hypocretin/orexin deficiency syndrome Hypodiploid ALL Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Hypogammaglobulinaemia Hypogammaglobulinemia due to CD21 deficiency Hypogammaglobulinemia due to CD81 deficiency Hypogammaglobulinemia due to FNIP1 deficiency Hypogammaglobulinemia due to LAT deficiency Hypogammaglobulinemia due to MSN deficiency Hypogammaglobulinemia due to TWEAK deficiency Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Hypogenetic lung syndrome Hypoglossia-hypodactylia syndrome Hypoglossia/aglossia Hypogonadism Hypogonadism-alopecia-diabetes mellitus-mental retardation syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-developmental delay syndrome Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypointestinal pseudoobstruction with facial dysmorphism syndrome Hypokalemic alkalosis with sensorineural deafness Hypokalemic alkalosis-hypomagnesemia syndrome Hypokalemic nephropathy Hypokalemic nephropathy with sensorineural deafness Hypokalemic periodic paralysis type 1 Hypokalemic periodic paralysis type 2 Hypokalemic periodic paralysis with central core disease Hypokalemic periodic paralysis with paramyotonia Hypokalemic periodic paralysis, atypical form Hypokalemic rickets Hypokalemic sensory overstimulation Hypokalemic tubulopathy with hearing loss Hypokeratosis of palms and soles Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy Hypomyelinating leukodystrophy due to FAM126A deficiency Hypomyelinating leukodystrophy due to HIKESHI deficiency Hypomyelinating leukodystrophy due to NKX6-2 deficiency Hypomyelinating leukodystrophy due to TMEM106B deficiency Hypomyelinating leukodystrophy with brain stem and spinal cord involvement Hypomyelinating leukodystrophy with or without oligodontia Hypomyelinating leukodystrophy with slowly progressive ataxia Hypomyelinating leukodystrophy-ataxia-hypodontia syndrome Hypomyelinating leukodystrophy-hypogonadotropic hypogonadism syndrome Hypomyelinating neuropathy with congenital glaucoma Hypomyelinating neuropathy-congenital cataract syndrome Hypomyelination and congenital cataract Hypomyelination with atrophy of the basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with cataract and developmental delay Hypomyelination with congenital spondylocostal dysostosis Hypomyelination with delayed myelination and vanishing white matter Hypomyelination with early cerebellar atrophy Hypomyelination with hypodontia and hypogonadotropic hypogonadism Hypomyelination with optic nerve atrophy and basal ganglia abnormalities Hypomyelination with severe intellectual disability and basal ganglia abnormalities Hypomyelination with vanishing white matter Hypomyelination, hypogonadotropic hypogonadism and hypodontia Hypomyelination-congenital cataract syndrome Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Hypoparathyroidism Hypoparathyroidism due to CASR gain-of-function mutation Hypoparathyroidism due to GCM2 deficiency Hypoparathyroidism due to GNA11 gain-of-function mutation Hypoparathyroidism due to PTH deficiency Hypoparathyroidism due to SOX3 duplication Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal dysplasia syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism due to TBCE deficiency Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability syndrome Hypophosphatasia Hypophosphatasia due to ALPL deficiency Hypophosphatasia, adult form Hypophosphatasia, childhood form Hypophosphatasia, infantile form Hypophosphatasia, odontohypophosphatasia form Hypophosphatasia, perinatal benign form Hypophosphatasia, perinatal lethal form Hypophosphatasia-seizures-intellectual disability syndrome Hypophosphatemic nephrolithiasis-osteoporosis syndrome Hypophosphatemic rickets with hypercalciuria Hypophosphatemic rickets with hyperparathyroidism Hypophosphatemic rickets with nephrocalcinosis Hypophosphatemic rickets with renal phosphate wasting Hypophosphatemic rickets, autosomal dominant Hypophosphatemic rickets, autosomal recessive Hypophosphatemic rickets, X-linked dominant Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation, organomegaly, and delayed myelination syndrome Hypopigmentation-deafness syndrome Hypopigmentation-immunodeficiency with or without neurologic defects syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism Hypopituitarism due to GLI2 deficiency Hypopituitarism due to HESX1 deficiency Hypopituitarism due to LHX3 deficiency Hypopituitarism due to LHX4 deficiency Hypopituitarism due to LHX4 mutation with Chiari malformation Hypopituitarism due to OTX2 deficiency Hypopituitarism due to POU1F1 deficiency Hypopituitarism due to PROP1 deficiency Hypopituitarism due to transcription factor defect Hypopituitarism with ectopic posterior pituitary and pituitary stalk interruption syndrome Hypoplasia of corpus callosum with microcephaly and coloboma Hypoplasia of the cerebellum with progressive microcephaly Hypoplasia of the inferior cerebellar vermis with psychomotor retardation Hypoplasia of the mitral valve annulus Hypoplasia of the optic nerve with endocrine abnormalities Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta and nephrocalcinosis Hypoplastic anemia due to ribosomal protein deficiency Hypoplastic anemia with myelofibrosis Hypoplastic anemia-retardation syndrome Hypoplastic bone marrow failure syndrome Hypoplastic corpus callosum-retinopathy syndrome Hypoplastic distal phalanges-hypoplastic nails syndrome Hypoplastic left heart complex Hypoplastic left heart syndrome Hypoplastic left heart syndrome with aortic atresia Hypoplastic left heart syndrome with intestinal malrotation Hypoplastic left heart syndrome with mitral atresia Hypoplastic left heart syndrome with mitral stenosis Hypoplastic left heart syndrome with restrictive atrial septum Hypoplastic left heart syndrome with splenic anomalies Hypoplastic myelodysplastic syndrome Hypoplastic myelodysplastic syndrome with fibrosis Hypoplastic or aplastic tibia with polydactyly Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic right heart syndrome Hypoplastic right ventricle with pulmonary atresia Hypoplastic thumbs and halluces with ocular anomalies Hypoplastic thumbs with distal phalangeal aplasia and short stature Hypoplastic thumbs-onychodystrophy-deafness syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tricuspid valve syndrome Hypoplastic tricuspid valve with pulmonary atresia Hypoplastic uterus and vagina syndrome Hypoplastic uterus with distal vaginal atresia Hypoplastic vitreoretinopathy Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyporegenerative anemia with mitochondrial dysfunction Hyporeninemic hypertension Hyporeninemic hypoaldosteronism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias with facial anomalies and intellectual disability Hypospadias with growth retardation syndrome Hypospadias, severe form Hypospadias-dysphagia syndrome Hypospadias-intellectual disability, Goldblatt type Hypospadias-mental retardation syndrome Hypospadias-microcephaly syndrome Hypospadias-retardation syndrome, Opitz type Hypospadias-short stature-intellectual disability syndrome Hypotelorism-cleft palate-hypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartoma with gelastic seizures Hypothyroidism Hypothyroidism due to deficient transcription factors Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Hypotonia and developmental delay with atrophy of the leg muscles Hypotonia and ichthyosis due to dolichol phosphate mannose synthase deficiency Hypotonia and intellectual disability syndrome due to UNC80 deficiency Hypotonia and psychomotor retardation with characteristic facies Hypotonia ataxia developmental delay syndrome Hypotonia developmental delay and characteristic facies syndrome Hypotonia infantile with psychomotor retardation and characteristic facies 1 Hypotonia infantile with psychomotor retardation and characteristic facies 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia infantile with psychomotor retardation and characteristic facies 4 Hypotonia infantile with psychomotor retardation and characteristic facies 5 Hypotonia infantile with psychomotor retardation and characteristic facies 6 Hypotonia infantile with psychomotor retardation and characteristic facies 7 Hypotonia with lactic acidemia and hyperammonemia Hypotonia, infantile, with psychomotor retardation and characteristic facies 10 Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 Hypotonia, infantile, with psychomotor retardation and characteristic facies 8 Hypotonia, infantile, with psychomotor retardation and characteristic facies 9 Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome Hypotonia-cerebellar atrophy-developmental delay syndrome Hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome due to 2p21 deletion Hypotonia-cystinuria type 1 syndrome Hypotonia-deafness syndrome Hypotonia-encephalopathy-seizure syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypotonia-hypogonadism-hypogenitalism-obesity-developmental delay syndrome Hypotonia-intellectual disability-behavioral abnormalities syndrome Hypotonia-intellectual disability-obesity syndrome Hypotonia-motor delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome due to CTBP1 deficiency Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy due to CDH3 deficiency Hypotrichosis with keratosis pilaris and alopecia Hypotrichosis with recurrent skin blistering Hypotrichosis with recurrent skin vesicles Hypotrichosis with woolly hair Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-juvenile macular degeneration syndrome Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defects syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-retinal degeneration juvenile macular dystrophy syndrome Hypotrichosis-skin lesions-acral blistering syndrome Hypouricemia with exercise-induced acute kidney injury Hypouricemia, renal Hypouricemia, renal, type 1 Hypouricemia, renal, type 2 Hypouricemic nephrolithiasis Hypouricemic nephropathy Hypoventilation due to congenital leptin receptor deficiency Hypoventilation syndrome due to congenital leptin deficiency Hypovitaminosis D rickets due to vitamin D receptor defect Hypoxic-ischemic encephalopathy Hyrtl anomaly Hystrix-like ichthyosis with deafness syndrome Hystrix-like ichthyosis-deafness syndrome due to GJB2 deficiency I-TGCV ICF syndrome ICF syndrome type 2 ICF syndrome type 3 ICF syndrome type 4 Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome Ichthyosis vulgaris Ichthyosis-spastic quadriplegia-mental retardation syndrome Idiopathic CD4 lymphocytopenia Idiopathic environmental intolerance Idiopathic generalized epilepsy Idiopathic Hyperprolactinaemia Idiopathic infantile arterial calcification Idiopathic ketotic hypoglycemia Idiopathic lymphocytopenia Idiopathic non-cirrhotic portal hypertension Idiopathic pleuroparenchymal fibroelastosis Idiopathic portal hypertension Idiopathic scoliosis Idiopathic short stature Idiopathic systemic capillary leak syndrome Idiopathic Thrombocytopenic Purpura Idiopathic ventricular tachycardia IgA glomerulonephritis IgA nephropathy IgA pemphigus IgA vasculitis IgG4-related disease IGHD IGHD type 1A IGHD type 1B IGHD type 2 IGHD type 3 IgM deficiency, selective IgM glomerulonephritis IgM nephropathy IL10 deficiency IL10 receptor deficiency IL12 receptor beta 1 deficiency IL21 receptor deficiency IL2RG deficiency IL6 receptor deficiency IL7 receptor deficiency Imerslund-Gräsbeck syndrome Immune complex mediated vasculitis Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune hydrops fetalis Immune thrombocytopenia, chronic Immune-mediated acquired neuromuscular junction disease Immune-mediated cerebellar ataxia Immune-mediated necrotizing myopathy Immune-mediated scleritis Immune-mediated thrombotic thrombocytopenic purpura Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to ADA deficiency Immunodeficiency due to AK2 deficiency Immunodeficiency due to CARD11 deficiency Immunodeficiency due to CARD9 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to CD40 deficiency Immunodeficiency due to CD40 ligand deficiency Immunodeficiency due to DOCK8 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to GATA2 deficiency Immunodeficiency due to IKZF1 deficiency Immunodeficiency due to IL2RB deficiency Immunodeficiency due to IRF8 deficiency Immunodeficiency due to JAK3 deficiency Immunodeficiency due to LCK deficiency Immunodeficiency due to MALT1 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to NEMO deficiency Immunodeficiency due to ORAI1 deficiency Immunodeficiency due to PIK3CD mutation Immunodeficiency due to PIK3R1 mutation Immunodeficiency due to PNP deficiency Immunodeficiency due to RAG1 deficiency Immunodeficiency due to RAG2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to STAT1 gain-of-function mutation Immunodeficiency due to STAT3 mutation Immunodeficiency due to STIM1 deficiency Immunodeficiency due to TCF3 deficiency Immunodeficiency due to TYK2 deficiency Immunodeficiency due to ZAP70 deficiency Immunodeficiency with antibody deficiency and autoimmunity Immunodeficiency with combined B and T cell defect Immunodeficiency with DNA repair defect Immunodeficiency with factor I anomaly Immunodeficiency with hyper IgE and recurrent infections Immunodeficiency with hyper IgM due to AICDA deficiency Immunodeficiency with hyper IgM due to UNG deficiency Immunodeficiency with hyper IgM, X-linked Immunodeficiency with hypopigmentation and neurologic abnormalities Immunodeficiency with immune dysregulation due to FOXP3 deficiency Immunodeficiency with lymphopenia due to CD3 deficiency Immunodeficiency with lymphopenia due to CD45 deficiency Immunodeficiency with lymphopenia due to CORO1A deficiency Immunodeficiency with lymphopenia due to MST1 deficiency Immunodeficiency with lymphopenia due to PTPRC deficiency Immunodeficiency with lymphopenia due to RAC2 deficiency Immunodeficiency with lymphopenia due to TTC7A deficiency Immunodeficiency with lymphoproliferation and autoimmunity Immunodeficiency with multiple intestinal atresias Immunodeficiency with susceptibility to EBV infection Immunodeficiency with susceptibility to fungal infections Immunodeficiency with susceptibility to herpes simplex virus infection Immunodeficiency with susceptibility to HPV infection Immunodeficiency with susceptibility to mycobacterial disease Immunodeficiency with susceptibility to viral infections Immunodeficiency with thymoma Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-epilepsy syndrome Immunodeficiency-intellectual disability syndrome Immunodeficiency-microcephaly syndrome Immunodeficiency-short stature-facial dysmorphism syndrome Immunotherapy induced hypophysitis Imperforate oropharynx-costovertebral anomalies syndrome Imprinting disorders Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Incomplete septal cirrhosis Indeterminate cell histiocytosis Indolent B-cell non-Hodgkin lymphoma Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indomethacin embryofetopathy Infant botulism Infantile apnea Infantile bilateral striatal necrosis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome Infantile CLN1 disease Infantile CLN2 disease Infantile convulsions and choreoathetosis Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile epileptic spasms syndrome Infantile epileptic-dyskinetic encephalopathy Infantile esotropia Infantile facioscapulohumeral muscular dystrophy Infantile free sialic acid storage disease Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis Infantile hemangioma Infantile hepatocerebral mitochondrial DNA depletion syndrome Infantile hypophosphatasia Infantile hypotonia with psychomotor retardation Infantile idiopathic scoliosis Infantile Krabbe disease Infantile liver failure syndrome type 1 Infantile liver failure syndrome type 2 Infantile liver failure syndrome type 3 Infantile liver failure syndrome type 4 Infantile liver failure syndrome type 5 Infantile liver failure syndrome type 6 Infantile malignant osteopetrosis Infantile neuroaxonal dystrophy Infantile onset ascending hereditary spastic paralysis Infantile onset epileptic encephalopathy Infantile onset sialidosis Infantile onset spinal muscular atrophy with respiratory distress Infantile onset spinocerebellar ataxia Infantile spasms syndrome Infantile spondylocostal dysostosis Infantile systemic hyalinosis Infantile systemic lupus erythematosus Infantile tremor syndrome Infantile unilateral striatal necrosis Infantile visceral leishmaniasis Infantile-onset inflammatory bowel disease Infantile-onset multisystem neurologic endocrine pancreatic disease Infantile-onset spinocerebellar degeneration Infantile-onset X-linked spinal muscular atrophy Infectious aortitis Infectious crystalline keratopathy Infectious scleritis Infective Endocarditis Infective myocarditis Inferior Vena-caval Obstruction Inflammatory aortic aneurysm Inflammatory Bowel Disease Inflammatory bowel disease associated with immunodeficiency Inflammatory bowel disease due to IL10 deficiency Inflammatory bowel disease due to IL10 receptor deficiency Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory pseudotumor of kidney Inflammatory pseudotumor of liver Inflammatory pseudotumor of lung Inflammatory pseudotumor of orbit Inflammatory pseudotumor of spleen Inflammatory/autoimmune disorder involving the lacrimal system Infundibulo-neurohypophysitis Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing lymphoproliferative syndrome Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited digestive cancer-predisposing syndrome Inherited epidermodysplasia verruciformis Inherited epidermolysis bullosa Inherited gynecological cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome Inherited human prion disease Inherited ichthyosis Inherited ichthyosis syndromic form Inherited isolated adrenal insufficiency due to STAR deficiency Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, biventricular form Inherited isolated arrhythmogenic cardiomyopathy, left dominant form Inherited isolated arrhythmogenic ventricular cardiomyopathy Inherited nervous system cancer-predisposing syndrome Inherited renal cancer-predisposing syndrome Inherited retinal disorder Inherited zinc deficiency Iniencephaly Inoculation botulism INPP5K-related syndrome Insulin autoimmune syndrome Insulin Resistance Insulin-resistance syndrome type A Insulin-resistance syndrome type B Int22h1/Int22h2 mediated-Xq28 microduplication syndrome Integrinopathy Intellectual disability associated with fragile site FRAXE Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability, Buenos-Aires type Intellectual disability, Mietens-Weber type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome Intellectual disability-craniofacial dysmorphism-cardiac defect syndrome Intellectual disability-craniofacial dysmorphism-short stature syndrome Intellectual disability-craniofacial dysmorphism-skeletal anomalies syndrome Intellectual disability-epilepsy-movement disorder syndrome Intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Intellectual disability-facial dysmorphism-skeletal anomalies syndrome Intellectual disability-hearing loss syndrome Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intellectual disability-macrocephaly syndrome Intellectual disability-microcephaly syndrome Intellectual disability-motor delay syndrome Intellectual disability-myopathy syndrome Intellectual disability-ocular anomalies syndrome Intellectual disability-spasticity syndrome Interatrial communication Intercostal nerve syndrome Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate atrioventricular septal defect Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate Charcot-Marie-Tooth disease Intermediate collagen VI-related muscular dystrophy Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate generalized junctional epidermolysis bullosa Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate uveitis Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent Claudication Intermittent hydrarthrosis Intermittent maple syrup urine disease Internal carotid absence Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interstitial lung disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to NKX2-1 mutation Interstitial lung disease due to surfactant protein B deficiency Interstitial lung disease due to surfactant protein C deficiency Interstitial pneumonia with autoimmune features Interstitial pulmonary fibrosis associated with telomerase defect Intervertebral Disc Rupture Intestinal duplication Intestinal epithelial dysplasia Intestinal epithelial dysplasia, syndromic form Intestinal failure Intestinal lymphangiectasia Intestinal malrotation Intestinal neuronal dysplasia Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intestinal pseudo-obstruction Intestinal pseudo-obstruction, chronic idiopathic Intestinal pseudo-obstruction, familial visceral myopathy type Intestinal pseudo-obstruction, familial visceral neuropathy type Intestinal vascular malformation Intracranial aneurysm, familial Intracranial calcification syndrome Intracranial germinoma Intracranial hypertension, idiopathic Intracranial lipoma Intracranial meningioma, familial Intracranial teratoma Intrauterine Growth Restriction Intrinsic factor deficiency Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease Isochromosome Y syndrome Isochromosomy Yp syndrome Isochromosomy Yq syndrome Isolated absence of both forearm and hand Isolated absence of both lower leg and foot Isolated absence of thigh and lower leg with foot present Isolated absence of upper arm and forearm with hand present Isolated absence/hypoplasia of fingers excluding thumb, unilateral Isolated acheiria Isolated acheiropodia Isolated adrenal medullary hyperplasia Isolated agenesis of gallbladder Isolated amelia of lower limb Isolated amelia of upper limb Isolated amyelia Isolated anal canal duplication Isolated angioid streaks Isolated ankyloblepharon filiforme adnatum Isolated anogenital granulomatosis Isolated anterior cervical hypertrichosis Isolated apodia Isolated arhinencephaly Isolated arrhinia Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated atrial septal defect Isolated atrioventricular block, congenital Isolated basilar invagination Isolated bilateral renal agenesis Isolated brachydactyly type A1 Isolated brachydactyly type A2 Isolated brachydactyly type A3 Isolated brachydactyly type B Isolated brachydactyly type C Isolated brachydactyly type D Isolated brachydactyly type E Isolated bronchogenic cyst Isolated congenital diaphragmatic hernia Isolated congenital ptosis Isolated congenital pulmonary airway malformation Isolated congenital tracheal stenosis Isolated coronal craniosynostosis Isolated craniosynostosis Isolated ectopia lentis Isolated familial exudative vitreoretinopathy Isolated generalized epilepsy Isolated hemihyperplasia Isolated hypogonadotropic hypogonadism Isolated lateral meningocele Isolated left bronchial isomerism Isolated left pulmonary artery sling Isolated left ventricular noncompaction Isolated levocardia Isolated lissencephaly type 1 without known genetic defects Isolated lower lip fistula Isolated lower lip pits Isolated macular dystrophy Isolated median cleft face syndrome Isolated megalencephaly Isolated megalopapilla Isolated melanocytic schwannoma Isolated melanotic schwannoma Isolated mesenteric lipodystrophy Isolated mesenteric vein thrombosis Isolated metopic and sagittal craniosynostosis Isolated metopic craniosynostosis Isolated micronodular adrenocortical disease Isolated microspherophakia Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated multicystic dysplastic kidney Isolated nail clubbing Isolated nephrogenic diabetes insipidus Isolated neural tube defect Isolated neuronal ceroid lipofuscinosis Isolated noncompaction cardiomyopathy Isolated oligodontia Isolated osteogenesis imperfecta Isolated partial atrioventricular septal defect Isolated patent ductus arteriosus Isolated Pierre Robin sequence with developmental delay Isolated pituitary hormone deficiency Isolated posterior cervical hypertrichosis Isolated postnatal microcephaly Isolated primary microcephaly Isolated pulmonary artery of ductal origin Isolated pulmonary capillaritis Isolated pulmonary valve stenosis Isolated pyramidal syndrome Isolated radial ray defect Isolated renal magnesium wasting Isolated rhombencephalosynapsis Isolated right atrial isomerism Isolated right ventricular hypoplasia Isolated sagittal craniosynostosis Isolated sedoheptulokinase deficiency Isolated segmental infantile hemangioma Isolated small intestine duplication Isolated splenic vein thrombosis Isolated splenogonadal fusion Isolated split hand-split foot malformation Isolated spontaneous cervical artery dissection Isolated stationary inherited retinal disorder Isolated sternocostoclavicular hyperostosis Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated tetra-amelia Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated tibial hemimelia Isolated tibio-fibular synostosis Isolated total cerebellar vermis agenesis Isolated tracheoesophageal fistula Isolated transitional filum lipoma Isolated tubular duplication of the esophagus Isolated ulnar hemimelia Isolated unilateral hemispheric cerebellar hypoplasia Isolated unisquamosal craniosynostosis Isolated unisutural craniosynostosis Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isolated vitreoretinopathy Isomerism of left atrial appendage Isosporiasis Isotretinoin syndrome Isotretinoin-like syndrome ISPD-related limb-girdle muscular dystrophy R20 ISSD ITK deficiency ITM2B amyloidosis ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ITPN IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr Syndrome Jackson-Weiss Syndrome Jaffe-Campanacci Syndrome Jaffe-Lichtenstein Disease Jagell-Holmgren-Hofer Syndrome Jamaican Vomiting Sickness Jancar Syndrome Jankovic-Rivera Syndrome Jansen-de Vries Syndrome Jaw-Winking Syndrome Jawad Syndrome Jeavons Syndrome Jejunal Atresia Microcephaly Ocular Anomalies Syndrome Jessner Lymphocytic Infiltration of the Skin Johnson Neuroectodermal Syndrome Johnson Syndrome Johnson-McMillin Syndrome Johnson-Munson Syndrome Johnston-Aarons-Schelley Syndrome Joint Instability Syndrome Jones Syndrome Joubert Syndrome with Ocular Defect Joubert Syndrome with Renal Defect Joubert Syndrome with Retinopathy Juberg-Hayward Syndrome Junctional Ectopic Tachycardia Junctional Epidermolysis Bullosa, Disentis Type Junctional Epidermolysis Bullosa, Herlitz Type Junctional Epidermolysis Bullosa, non-Herlitz Localized Type Jung Syndrome Junin Hemorrhagic Fever Jussieu Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Aponeurotic Fibromatosis Juvenile Bone Cyst Juvenile Canavan Disease Juvenile Cataract Microcornea Renal Glucosuria Syndrome Juvenile Charcot Disease Juvenile CLN Disease Juvenile Dermatomyositis Juvenile Elastoma without Osteopoikilosis Juvenile Enthesitis-Related Arthritis Juvenile Gastrointestinal Polyposis Juvenile Glaucoma Juvenile GM1 Gangliosidosis Juvenile Hemochromatosis Juvenile Hyaline Fibromatosis Juvenile Idiopathic Inflammatory Myopathy Juvenile Inflammatory Arthritis Juvenile Intestinal Polyposis Juvenile Lou Gehrig Disease Juvenile Muscular Atrophy of the Distal Upper Limb Juvenile Myasthenia Gravis Juvenile Nasopharyngeal Angiofibroma Juvenile Nephronophthisis Juvenile Nephropathic Cystinosis Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Osteoporosis Juvenile Overlap Myositis Juvenile Paget Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Juvenile Periodontitis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis of Infancy Juvenile Polyposis Syndrome Juvenile Primary Lateral Sclerosis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juvenile-onset Diabetes Mellitus Central and Peripheral Neurodegeneration Syndrome Juvenile-onset Multiple Carboxylase Deficiency Juvenile-onset Myotonic Dystrophy Type 1 Juvenile-onset Steinert Disease Juvenile-onset Vitelliform Macular Dystrophy Juxtaposition of the Atrial Appendages K+-aggravated myotonia Kabuki Syndrome Kaeser syndrome Kagami-Ogata syndrome Kaler-Garrity-Stern syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karsch-Neugebauer syndrome Karyomegalic interstitial nephritis Kasabach-Merritt phenomenon KAT5-related neurodevelopmental disorder KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome KAT6A syndrome KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome Kaya-Barakat-Masson syndrome Kaya-Prontera syndrome KBG syndrome KCNE1-related isolated congenital long QT syndrome KCNE2-related isolated congenital long QT syndrome KCNH2-related isolated congenital long QT syndrome KCNK9 imprinting syndrome KCNQ1-related isolated congenital long QT syndrome KCNQ2-related developmental and epileptic encephalopathy KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM5C-related syndromic X-linked intellectual disability Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Paterson syndrome Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratinopathic ichthyosis Keratitis fugax hereditaria Keratitis-ichthyosis-deafness syndrome Keratoconjunctivitis Sicca Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratoendotheliitis fugax hereditaria Keratolytic winter erythema Keratomycosis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris varians of Wachters Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantaris-esophageal syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis pilaris atrophicans Kerion celsi Kernicterus Kernicterus spectrum disorder Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Kidney dysplasia Kidney dysplasia, bilateral Kidney dysplasia, unilateral Kidney tubulopathy-dilated cardiomyopathy syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kilquist syndrome Kimura disease Kindler epidermolysis bullosa Kindler syndrome Kinetic abnormalities of the acetylcholine receptor King-Denborough syndrome Kinsbourne syndrome Kjellin syndrome carcinoma syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Crisponi/cold induced sweating-like syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klinefelter Syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil Syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome KMT2B-related dystonia KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT5B haploinsufficiency neurodevelopmental disorder Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohler disease Kohlschütter-Tönz syndrome Kok disease Kommerell diverticulum Komuragaeri disease Koolen-De Vries syndrome Kopysc-Barczyk-Krol syndrome Kosaki overgrowth syndrome Kosenow syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krasnow-Qazi syndrome Krause-Kivlin syndrome Krebs cycle disorder Kreiborg-Pakistani syndrome KRT1-related diffuse NEPPK KRT1-related diffuse nonepidermolytic keratoderma Kufor-Rakeb syndrome Kufs disease type B Kugelberg-Welander disease Kunze-Riehm syndrome Kuru Kuskokwim syndrome Kuzniecky syndrome Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome Kyphosis-lateral tongue atrophy myofibrillar myopathy syndrome Küttner tumor Köhlmeier-Degos disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-ferritin deficiency L-glyceric aciduria L1 syndrome La Crosse encephalitis Laband syndrome Labrune syndrome Lacrimal drainage system anomaly Lacrimal drainage system anomaly of genetic origin Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LADD syndrome Ladda-Zonana-Ramer syndrome Laing distal myopathy LAMA2-related muscular dystrophy LAMA5-related multisystemic syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related late-onset muscular dystrophy Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Laminopathy Laminopathy with lipodystrophy Laminopathy with peripheral neuropathy Laminopathy with premature aging Laminopathy with striated muscle involvement LAMM syndrome Landau-Kleffner syndrome Landing disease Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans Cell Histiocytosis Langerhans cell sarcoma Laparoschisis LARD syndrome Large cell lymphoma of the mediastinum Large granular lymphocyte leukemia Large segmental hemangioma Large/giant congenital melanocytic nevus Laron syndrome with immunodeficiency Laron-like syndrome Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx anomaly Larynx atresia Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile neuronal ceroid lipofuscinosis type 1 Late infantile neuronal ceroid lipofuscinosis type 10 Late infantile neuronal ceroid lipofuscinosis type 2 Late infantile neuronal ceroid lipofuscinosis type 5 Late infantile neuronal ceroid lipofuscinosis type 6 Late infantile neuronal ceroid lipofuscinosis type 8 Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset brain arteriovenous fistula Late-onset citrullinemia type 1 Late-onset combined immunodeficiency due to ICOS deficiency Late-onset combined immunodeficiency due to ICOSL deficiency Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset familial encephalopathy with neuroserpin inclusion bodies Late-onset familial hyperreninemic hypoaldosteronism Late-onset familial hypoaldosteronism Late-onset focal dermal elastosis Late-onset idiopathic chronic pancreatitis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset myotonic dystrophy type 1 Late-onset nephronophthisis Late-onset Pompe disease Late-onset primary lymphedema without systemic or visceral involvement Late-onset retinal degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset spinal arteriovenous fistula Late-onset spinal motor neuronopathy Late-onset SPMD with hyaline bodies Late-onset Tay-Sachs disease Lateral facial cleft Lateral meningocele syndrome Lathosterolosis Lattice corneal dystrophy type 1 Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome Lead poisoning Learman syndrome Leber miliary aneurysm Leber optic atrophy Leber plus disease Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left atrial isomerism Left Atrial Isomerism Left bronchial isomerism without heterotaxy Left coronary artery from right aortic sinus Left isomerism Left renal vein entrapment syndrome Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac Saint-Jean type Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminata Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome LEMD2-associated nuclear envelopathy with early progeroid appearance Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens position anomaly Lens position anomaly of genetic origin Lens shape anomaly Lens size anomaly Lens size anomaly of genetic origin Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia syndrome Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprosy Leprosy Leptomeningeal melanomatosis Leri pleonosteosis Léri-Weill dyschondrosteosis Lethal 1p36.33 deletion syndrome Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects Lethal chondrodysplasia Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal faciocardiomelic dysplasia Lethal fetal brain malformation duodenal atresia-bilateral renal hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis-hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephaly diaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal hyperkeratosis-contracture syndrome Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal midline granuloma Lethal multiple congenital anomalies-dysmorphic syndrome Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal polymalformative syndrome, Boissel type Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia pulmonary hypoplasia syndrome Lethal tight skin-contracture syndrome Letrozole toxicity Leucoplakia - Oral / Hairy Leukaemia Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy Leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy with oligodontia Leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levocardia Levocardia with situs inversus Levy-Hollister syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LGMD D5 collagen VI-related dystrophy LGMD R22 collagen VI-related dystrophy Lhermitte-Duclos disease Li-Fraumeni syndrome Liang-Wang syndrome Liberfarb syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen myxedematosus Lichen planopilaris Lichen planus Lichen planus pemphigoides Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Limb body wall complex Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 2X Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to BVES deficiency Limb-girdle muscular dystrophy due to BVES deficiency (BVES-related LGMD) Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2B Limb-girdle muscular dystrophy type 2C Limb-girdle muscular dystrophy type 2D Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2G Limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy type 2M Limb-girdle muscular dystrophy type 2N Limb-girdle muscular dystrophy type 2O Limb-girdle muscular dystrophy type 2P Limb-girdle muscular dystrophy type 2Q Limb-girdle muscular dystrophy type 2S Limb-girdle muscular dystrophy type 2T Limb-girdle muscular dystrophy type 2U Limb-girdle muscular dystrophy type 2X Limb-girdle muscular dystrophy type 2Y Limb-girdle muscular dystrophy type 2Z Limb-girdle muscular dystrophy type D4 Limb-girdle muscular dystrophy type R23 Limb-girdle muscular dystrophy type R24 Limb-girdle muscular dystrophy type R28 Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophy-intellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis Limbic encephalitis-neuromyotonia syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Limit dextrinosis Limited cutaneous systemic sclerosis Limited dorsal myeloschisis Lindau disease Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear IgA dermatosis Linear lichen planus Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy Lipid storage disease Lipid storage myopathy Lipoamide dehydrogenase deficiency Lipoate biosynthesis defect Lipoatrophia semicircularis Lipoatrophy caused by injected drug Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid Nephrosis Lipoid Proteinosis Lipoid proteinosis Lipoma of the filum terminale Lipomatosis dolorosa Lipomatous flat limited dorsal myeloschisis Lipomatous mesenteritis Lipomatous non-saccular limited dorsal myeloschisis Lipomucopolysaccharidosis Lipoprotein deficiency Lipoprotein glomerulopathy Lipoprotein lipase deficiency Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisch nodules Lisch syndrome Lisker-Garcia-Ramos syndrome Lison syndrome Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, Norman Roberts type Lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 Lissencephaly type 2 with muscular and ocular involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Littoral cell angioma of the spleen Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis with summer ulcerations Livedo reticularis-cerebrovascular accident syndrome Livedo-like dermatitis Livedoid vasculopathy Liver Abscess Liver adenomatosis Liver cirrhosis due to metabolic disease Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Liver Failure Liver fibrosis Liver fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Liver glycogen phosphorylase deficiency LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy Lobar holoprosencephaly Lobstein disease LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa, acral form Localized dystrophic epidermolysis bullosa, nails only Localized dystrophic epidermolysis bullosa, pretibial form Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized intravascular coagulation Localized junctional epidermolysis bullosa Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lipodystrophy Localized pagetoid reticulosis Localized pleural mesothelioma Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Loiasis Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Long QT syndrome type 5 Long QT syndrome type 6 Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Loricrin keratoderma Lou Gehrig disease Loucks-Innes syndrome Louis-Bar syndrome Low oxygen affinity alpha chain hemoglobin disease Low oxygen affinity beta chain hemoglobin disease Low oxygen affinity gamma chain hemoglobin disease Low oxygen affinity hemoglobin disease Low phospholipid-associated cholelithiasis Low resistance capillary malformation Low-flow priapism Low-flow vascular malformation of the bone Low-grade appendiceal mucinous neoplasm Low-grade astrocytoma Low-grade neuroendocrine tumor of the corpus uteri Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe-Kohn-Cohen syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower limb hypertrophy Lower limb malformation hypospadias syndrome Lower motor neuron syndrome with late-adult onset Lower urinary tract obstruction Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LQTS type 8 LRP5-related primary osteoporosis LTC4 synthase deficiency Lubag disease Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lucey-Driscoll syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung Carcinoma Lung fibrosis immunodeficiency-46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Luscan-Lumish syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Lyell syndrome Lyme borreliosis Lymphangioma Lymphatic filariasis Lymphatic-venous malformation Lymphedema with yellow nails Lymphedema-atrial septal defects-facial changes syndrome Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome Lymphedema-lymphangiectasia intellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic mastitis Lymphocytic mastopathy Lymphocytic variant HES Lymphoepithelial cyst of the pancreas Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid eosinophilic syndrome Lymphoid hemopathy Lymphoid HES Lymphoid interstitial pneumonia Lymphoma Lymphoma Lymphoma Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lymphoproliferative disease associated with primary immune disease Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome Lysine alpha-ketoglutarate reductase deficiency Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal alpha-D-mannosidase deficiency, juvenile form Lysosomal disease Lysosomal disease with epilepsy Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy Lysosomal glycogen storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal involvement Lysosomal storage disorder due to saposin B deficiency Lysozyme amyloidosis Lysyl hydroxylase-deficient EDS Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-congenital heart disease-facial dysmorphism syndrome Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular noncompaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADA MADaM MADD MADD, mild type MADD, severe neonatal type MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome Maffucci syndrome with spindle cell hemangiomas MAGIC syndrome Magnesium transporter defect-intellectual disability syndrome Magnetic gait disorder Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major congenital anomaly syndrome, multiple Major depressive disorder, familial early-onset type Major histocompatibility complex class I deficiency Major histocompatibility complex class II deficiency Major omphalocele Makrydimas syndrome Mal de débarquement Mal de Meleda Malabsorption Malakoplakia Malan overgrowth syndrome Malaria, congenital Malaria, severe complicated type Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to chromosome Y microdeletion Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Malformation of the anal canal and the rectum Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the esophagus Malformation of the intestine Malformation of the neurenteric canal, spinal cord and column Malformation of the stomach and the duodenum Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant blue nevus Malignant carcinoid syndrome Malignant chondroid syringoma Malignant cutaneous adnexal tumor, unspecified Malignant cylindroma Malignant eccrine poroma Malignant eccrine spiradenoma Malignant epithelial tumor of ovary Malignant epithelial tumor of pancreas Malignant epithelial tumor of stomach Malignant germ cell tumor of ovary Malignant germ cell tumor of testis Malignant glomus tumor Malignant granular cell tumor Malignant hidradenoma Malignant mesenchymal tumor of bladder Malignant mesenchymal tumor of uterus Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor Malignant myoepithelioma Malignant nodular hidradenoma Malignant odontogenic tumor Malignant ossifying fibromyxoid tumor Malignant otitis externa Malignant ovarian stromal tumor Malignant PEComa Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant perivascular epithelioid cell tumor Malignant pertussis Malignant pilomatricoma Malignant pleural tumor, rare type Malignant proliferating trichilemmal tumor Malignant renal epithelial tumor Malignant rhabdoid tumor Malignant rhabdoid tumor of kidney Malignant rhabdoid tumor of liver Malignant rhabdoid tumor of soft tissue Malignant smooth muscle tumor Malignant spiradenoma Malignant stromal tumor of gastrointestinal tract Malignant trichoblastoma Malignant triton tumor Malignant tumor of adrenal cortex Malignant tumor of bile duct Malignant tumor of bone, rare type Malignant tumor of brain, rare type Malignant tumor of gallbladder Malignant tumor of larynx, rare type Malignant tumor of liver, rare type Malignant tumor of lung, rare type Malignant tumor of nasal cavity Malignant tumor of pancreas, rare type Malignant tumor of paranasal sinus Malignant tumor of skin, rare type Malignant tumor of small intestine Malignant tumor of spleen Malignant tumor of thymus Malignant tumor of thyroid gland, rare type Malignant tumor of trachea Malignant tumor of ureter Malignant tumor of urethra Malignant tumor of vulva, rare type Malignant vascular tumor, rare type Mandibulo-palpebral synkinesisptosis syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, GuionAlmeida type Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosidase alpha class 2B member 2-congenital disorder of glycosylation Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle zone lymphoma MAP Map-dot-fingerprint dystrophy Marbach-Rustad progeroid syndrome Marbach-Schaaf neurodevelopmental syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan Syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome Marfanoid habitus-inguinal herniaadvanced bone age syndrome Marfanoid syndrome, De Silva type Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome type 2 Maroteaux type acromesomelic dysplasia Maroteaux-Lamy-like syndrome Maroteaux-type spondyloepimetaphyseal dysplasia Marrow hypoplasia with immunodeficiency syndrome Marshall syndrome Marshall-Smith syndrome Martinez-Frias syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastitis Mastocytoma Mastocytosis, systemic with associated hematologic neoplasm Mastocytosis, diffuse cutaneous Mastocytosis, indolent systemic Mastocytosis, smoldering systemic Mastocytosis, systemic aggressive type Mastocytosis-associated hematologic neoplasm Maternal uniparental disomy 14 syndrome Maternal uniparental disomy 15 syndrome Maternal uniparental disomy 20 syndrome Maternal uniparental disomy 7 syndrome Mathieu-De Broca-Bony syndrome Matthews syndrome May-Hegglin anomaly May-Hegglin anomaly variant May-Hegglin anomaly with Döhlelike bodies Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MBD5-associated neurodevelopmental disorder McArdle disease McArdle disease, late-onset form McArdle disease, severe infantile form McCune-Albright-like syndrome McDonough syndrome McKusick type metaphyseal chondrodysplasia McLeod neuroacanthocytosis syndrome McLeod syndrome with cardiomyopathy McLeod syndrome with cardiomyopathy and arrhythmia McLeod syndrome with hematologic and neurologic features McLeod syndrome with hematological abnormalities McLeod syndrome with multisystem involvement McLeod syndrome with neurodegeneration McLeod syndrome with neuropsychiatric features McLeod syndrome with progressive neurodegeneration McLeod syndrome McLeod syndrome with ataxia McLeod syndrome with autonomic dysfunction McLeod syndrome with behavioral disorder McLeod syndrome with cardiac involvement McLeod syndrome with chorea McLeod syndrome with cognitive impairment McLeod syndrome with dysarthria McLeod syndrome with dysphagia McLeod syndrome with dystonia McLeod syndrome with early-onset presentation McLeod syndrome with elevated creatine kinase McLeod syndrome with extrapyramidal features McLeod syndrome with hemolytic anemia McLeod syndrome with incomplete penetrance McLeod syndrome with late-onset presentation McLeod syndrome with movement disorder McLeod syndrome with muscle weakness McLeod syndrome with muscular involvement McLeod syndrome with myopathy McLeod syndrome with peripheral blood abnormalities McLeod syndrome with peripheral neuropathy McLeod syndrome with psychiatric and neurological features McLeod syndrome with psychiatric manifestations McLeod syndrome with seizures McLeod syndrome with spasticity McLeod syndrome with tremor McLeod syndrome with variable expressivity McLeod syndrome, atypical form McLeod syndrome, X-linked Meckel-like syndrome Meckel-like syndrome type 1 Meckel-like syndrome type 2 Meckel-like syndrome type 3 Meckel-like syndrome type 4 Meckel-like syndrome type 5 Meckel-like syndrome type 6 Meckel-like syndrome type 7 Meckel-like syndrome type 8 Meckel-like syndrome type 9 Meconium ileus Meconium ileus equivalent Meconium peritonitis Medial tibial stress syndrome Median arcuate ligament syndrome Median cleft lip Median cleft mandible Median facial cleft syndrome Median nail dystrophy Median raphe cyst Mediastinal non-seminomatous germ cell tumor Mediastinal Fibrosis Mediastinal germ cell tumor Mediastinal Granuloma Mediastinal seminoma Mediastinitis, chronic fibrosing type Medulloblastoma, rare subtype Meesmann corneal dystrophy Meester-Loeys syndrome MEF2C-related syndrome Mega-cisterna magna Megacalycosis Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemiaimmunodeficiency due to folate transporter 1 deficiency Megaloblastic Anaemia Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Megaoesophagus Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome MEI Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome MEITL Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of choroid Melanoma of soft tissue Melanoma of uvea Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS syndrome with lactic acidosis MELAS syndrome with ocular involvement MELAS syndrome with renal involvement MELAS syndrome with gastrointestinal involvement MELAS syndrome with multisystem involvement MELAS syndrome with cardiomyopathy MELAS syndrome with cardiomyopathy and arrhythmia MELAS syndrome with diabetes MELAS syndrome with endocrine dysfunction MELAS syndrome with epilepsy MELAS syndrome with hearing loss MELAS syndrome with movement disorder MELAS syndrome with myopathy MELAS syndrome with neuropathy MELAS syndrome with progressive neurodegeneration MELAS syndrome with psychiatric manifestations MELAS syndrome with stroke-like episodes MELAS syndrome, atypical form MELAS syndrome, childhood-onset type MELAS syndrome, late-onset type MELAS syndrome, maternally inherited form MELAS-like syndrome Meleda disease Melhem-Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melphalan-induced pulmonary toxicity Melphalan-related acute myeloid leukemia Melphalan-related myelodysplastic syndrome Membranoproliferative glomerulonephritis Membranous aplasia cutis congenita Membranous nephropathy, idiopathic Membranous nephropathy, secondary Membranous cataract Membranous glomerulonephritis Mendelian susceptibility to mycobacterial disease, IL-12 p40 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?1 deficiency Mendelian susceptibility to mycobacterial disease, IRF8 deficiency Mendelian susceptibility to mycobacterial disease, ISG15 deficiency Mendelian susceptibility to mycobacterial disease, NEMO deficiency Mendelian susceptibility to mycobacterial disease, STAT1 deficiency Mendelian susceptibility to mycobacterial disease, autosomal dominant form Mendelian susceptibility to mycobacterial disease, autosomal recessive form Mendelian susceptibility to mycobacterial disease, complete IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, IFN-? pathway defect, unspecified Mendelian susceptibility to mycobacterial disease, IFN-gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?2 deficiency Mendelian susceptibility to mycobacterial disease, JAK1 deficiency Mendelian susceptibility to mycobacterial disease, JAK2 deficiency Mendelian susceptibility to mycobacterial disease, partial IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, ROR?T deficiency Mendelian susceptibility to mycobacterial disease, SPPL2A deficiency Mendelian susceptibility to mycobacterial disease, TYK2 deficiency Mendelian susceptibility to mycobacterial disease, X-linked form Mendelian susceptibility to mycobacterial infections Ménétrier disease Mengel-Konigsmark syndrome Meniere's Disease Meningeal Haemorrhage Meningeal melanocytoma Meningioma Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menke-Hennekam syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERS Mesangiocapillary glomerulonephritis Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenchymal hamartoma of liver Mesenteric Adenitis Mesenteric lipogranuloma Mesenteric panniculitis Mesenteric Vein Thrombosis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, KozlowskiReardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma of the tunica vaginalis Mesulam syndrome Metabolic myopathy due to carnitine palmitoyltransferase I deficiency Metabolic myopathy due to carnitine palmitoyltransferase II deficiency Metabolic myopathy due to coenzyme Q10 deficiency Metabolic myopathy due to glycerol kinase deficiency Metabolic myopathy due to mitochondrial trifunctional protein deficiency Metabolic myopathy due to mitochondrial DNA depletion syndrome Metabolic myopathy due to mitochondrial respiratory chain defect Metabolic myopathy due to multiple acyl-CoA dehydrogenase deficiency Metabolic myopathy due to neutral lipid storage disease Metabolic myopathy due to phosphoglycerate kinase deficiency Metabolic myopathy due to phosphoglycerate mutase deficiency Metabolic myopathy due to primary carnitine deficiency Metabolic neurotransmission anomaly with epilepsy Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic diseases with epilepsy Metabolic myopathy Metabolic myopathy due to betaenolase deficiency Metabolic myopathy due to fatty acid oxidation disorder Metabolic myopathy due to glycogen storage disease type IX Metabolic myopathy due to glycogen storage disease type V Metabolic myopathy due to glycogen storage disease type VII Metabolic myopathy due to lactate dehydrogenase deficiency Metabolic myopathy due to lactate transporter defect Metabolic myopathy due to phosphofructokinase deficiency Metabolic myopathy due to pyruvate carboxylase deficiency Metabolic myopathy due to pyruvate dehydrogenase deficiency Metabolic myopathy due to very long-chain acyl-CoA dehydrogenase deficiency Metabolic myopathy with exercise intolerance Metabolic myopathy with recurrent rhabdomyolysis Metabolic myopathy, unspecified Metachondromatosis Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Rosenberg type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal anadysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metastases without primary tumor Metastatic vascular neoplasm Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methionine adenosyltransferase I/ III deficiency Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylenetetrahydrofolate dehydrogenase 1 deficiency Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic aciduria, intermediate type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to MMAA deficiency Methylmalonic aciduria due to MMAB deficiency Methylmalonic aciduria due to MMADHC deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria, cblD type Methylmalonic aciduria, cblH type Methylmalonic aciduria, cblX type Methylmalonic aciduria, combined type Methylmalonic aciduria, isolated type Methylmalonic aciduria, neonatal type Methylmalonic aciduria, vitamin B12-responsive type Methylmalonyl-CoA epimerase deficiency Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA racemase deficiency Methylthioadenosine phosphorylase deficiency Metronidazole neurotoxicity Metronidazole-induced encephalopathy Mevalonate kinase deficiency Mevalonic aciduria Mevalonic aciduria, mild type Mevalonic aciduria, severe type Mexican type sialidosis Mianserin-induced agranulocytosis Micrencephaly Microangiopathic hemolytic anemia Microangiopathy, retinal Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic primordial dwarfism type I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type III Microcephalic osteodysplastic primordial dwarfism type IV Microcephaly with early-onset seizures and developmental delay Microcephaly with spastic quadriplegia Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 10 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 12 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 13 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 14 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 15 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 2 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 25 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 26 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 27 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 28 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 29 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 3 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 34 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 35 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 36 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 37 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 38 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 39 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 4 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 40 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 5 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 6 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 7 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 8 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 9 Microcephaly with or without chorioretinopathy, lymphoedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 16 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 17 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 18 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 19 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 20 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 21 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 22 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 23 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 24 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 30 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 31 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 32 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 33 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 41 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 42 Microcephaly with pontine and cerebellar hypoplasia Microcephaly with simplified gyral pattern Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-chorioretinopathy syndrome Microcephaly-corpus callosum agenesis-intellectual disability syndrome Microcephaly-deafness syndrome Microcephaly-epilepsy syndrome Microcephaly-eye anomalies syndrome Microcephaly-facial dysmorphism syndrome Microcephaly-hypogonadism syndrome Microcephaly-intellectual disability syndrome, autosomal recessive type Microcephaly-lissencephaly syndrome Microcephaly-micromelia syndrome Microcephaly-seizures syndrome Microcephaly-short stature syndrome Microcephaly-simplified gyral pattern-epilepsy syndrome Microcephaly-spastic diplegia syndrome Microcephaly-spastic quadriplegia syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-spasticity syndrome Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic lymphatic malformation Microcystic infiltrating lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdeletion of the AZF region on the Y chromosome Microdontia-type I microtiadeafness syndrome Microduplication Xp11.22p11.23 syndrome Microduplication 17p12 Microform holoprosencephaly Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-motor delaylanguage delay-brain anomaliesdiaphragmatic hernia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microscopic polyangiitis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 syndrome Microvenular haemangioma Microvillus inclusion disease Micturation-induced seizures Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Midline cerebral malformation Midline cervical cleft Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mikati-Najjar-Sahli syndrome Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller Fisher syndrome Mills syndrome Milroy disease Minimal change nephropathy Minimal pigment oculocutaneous albinism type 1 MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome Mirizzi syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror-image polydactyly Miscarriage Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA MiT family translocation renal cell carcinoma Mitchell Syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial Disorder Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy- aminoacidopathy syndrome Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathycerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a largescale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial short-chain enoylCoA hydratase 1 deficiency Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral regurgitation-deafnessskeletal anomalies syndrome Mitral atresia Mitral Regurgitation Mitral Stenosis Mitral valve agenesis Mitral Valve Insufficiency Mitral Valve Prolapse Mitten hand Mixed autoinflammatory and autoimmune syndrome Mixed functioning pituitary adenoma Mixed AIHA Mixed connective-tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and nonneuroendocrine neoplasm of pancreas Mixed phenotype acute leukemia with t(9;22)(q34;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia, B/myeloid, NOS Mixed phenotype acute leukemia, T/myeloid, NOS Mixed polyposis syndrome Mixed-type autoimmune hemolytic anemia MKKS-related Bardet-Biedl syndrome MKS1-related Joubert syndrome MKS1-related Meckel syndrome MKX deficiency MLASA syndrome due to mitochondrial tyrosyl-tRNA synthetase deficiency MLASA syndrome due to pseudouridine synthase deficiency MLASA syndrome MMAA-related methylmalonic aciduria MMAB-related methylmalonic aciduria MMACHC-related methylmalonic aciduria with homocystinuria MMADHC-related methylmalonic aciduria with homocystinuria MMAF MME-related axonal neuropathy MME-related late-onset CharcotMarie-Tooth disease MMIHS MMIHS with congenital mydriasis MMN MNGIE syndrome Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MOGS-CDG Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptinmelanocortin pathway anomaly Monogenic SRNS Monomelic amyotrophy Monomorphic epitheliotropic intestinal T-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q Monosomy 11q23 deletion syndrome Monosomy 12p Monosomy 13q Monosomy 14q11.2 Monosomy 14q22q23 Monosomy 14q32 Monosomy 15q Monosomy 16p13.3 Monosomy 16q Monosomy 17p Monosomy 17p13.3 Monosomy 17q Monosomy 18p Monosomy 18q Monosomy 19p13.3 Monosomy 19q13 Monosomy 20p Monosomy 20q Monosomy 21q Monosomy 22q11.2 Monosomy 22q13 Monosomy X Monosomy X mosaicism Monosomy Xp Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan syndrome Mosaic genome-wide paternal uniparental disomy syndrome Mosaic paternal uniparental disomy of chromosome 11 Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 Mosaic variegated aneuploidy syndrome type 2 Mosaic Legius syndrome Mosaic monosomy X syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic schwannomatosis Mosaic trisomy 1 syndrome Mosaic trisomy 10 syndrome Mosaic trisomy 12 syndrome Mosaic trisomy 14 syndrome Mosaic trisomy 15 syndrome Mosaic trisomy 16 syndrome Mosaic trisomy 17 syndrome Mosaic trisomy 18 syndrome Mosaic trisomy 19 syndrome Mosaic trisomy 2 syndrome Mosaic trisomy 20 syndrome Mosaic trisomy 21 syndrome Mosaic trisomy 22 syndrome Mosaic trisomy 3 syndrome Mosaic trisomy 4 syndrome Mosaic trisomy 5 syndrome Mosaic trisomy 6 syndrome Mosaic trisomy 7 syndrome Mosaic trisomy 8 syndrome Mosaic trisomy 9 syndrome Mosaic trisomy X syndrome Mosaic trisomy Y syndrome Mosaicism with genome instability syndrome Motor Neuron Disease Mounier-Kuhn syndrome Mowat-Wilson syndrome Moyamoya angiopathy, idiopathic Moyamoya disease Moyamoya Disease Moyamoya disease with earlyonset achalasia Moynahan syndrome MPDU1-CDG MPI-CDG MRCS syndrome MSH3-related polyposis MT-ATP6-related mitochondrial spastic paraplegia MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Mu-heavy chain disease MUC1-related autosomal dominant tubulointerstitial kidney disease Mucinous adenocarcinoma of ovary Mucinous cystadenoma of childhood Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous venous malformations Mucocutaneous Candidiasis Mucolipidosis Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 10 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type IS Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucormycosis Mucosa-associated lymphoid tissue lymphoma Mucosulfatidosis Mucous membrane pemphigoid Mudd's disease Mueller-Weiss syndrome Mulibrey nanism Mullerian Duct Aplasia Multicentric carpotarsal osteolysis syndrome Multicentric Castleman disease Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic Dysplastic Kidney Multifocal papillary thyroid carcinoma Multifocal superficial thrombophlebitis Multifocal atrial tachycardia Multifocal epithelial hyperplasia Multifocal fibrosclerosis Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal osteomyelitis, chronic recurrent Multifocal renal cell carcinoma Multifocal skeletal tuberculosis Multifocal vascular malformations syndrome Multifocal ventricular arrhythmia Multiglandular parathyroid disease Multiminicore disease Multinodular and vacuolating neuronal tumor Multinodular goiter Multiple congenital anomalieshypotonia-seizures syndrome Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasiamacrocephaly-facial dysmorphism syndrome Multiple epiphyseal dysplasiaminiepiphyses syndrome Multiple epiphyseal dysplasiasevere proximal femoral dysplasia syndrome Multiple isolated café-au-lait syndrome Multiple keratoacanthoma, Ferguson-Smith type Multiple mtDNA deletion syndrome Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium-malignant hyperthermia syndrome Multiple self-healing squamous epithelioma Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple acyl-CoA dehydrogenase deficiency Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 7 Multiple evanescent white dot syndrome Multiple glomus tumors Multiple hamartoma syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism congenital heart defects syndrome Multiple keratoacanthoma Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple ossifying fibroma Multiple pterygium syndrome Multiple sclerosis variant Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple venous malformations (Bean syndrome) Multisystem inflammatory syndrome in children and adults Multisystem Langerhans cell histiocytosis Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Muscle enolase deficiency Muscle filaminopathy Muscle glycogen storage disease due to phosphoglucomutase deficiency Muscle glycogen storage disease with exercise intolerance Muscle LIM protein deficiency Muscle phosphofructokinase deficiency Muscle phosphoglycerate kinase deficiency Muscle phosphoglycerate mutase deficiency Muscle weakness-intellectual disability syndrome Muscle weakness-ocular abnormalities syndrome Muscle-eye-brain disease Muscle-eye-brain disease with cerebellar cysts Muscle-eye-brain disease with cobblestone lissencephaly Muscle-type phosphofructokinase deficiency Muscular dystrophy, Duchenne type Muscular dystrophy, EmeryDreifuss type Muscular dystrophy, oculopharyngeal type Muscular dystrophy, Becker type Muscular dystrophy, limb-girdle type Muscular dystrophy-dystroglycanopathy type A Muscular dystrophy-dystroglycanopathy type B Muscular dystrophy-dystroglycanopathy type C Muscular dystrophy-dystroglycanopathy type D Muscular dystrophy-dystroglycanopathy type E Muscular dystrophy-dystroglycanopathy type F Muscular dystrophy-dystroglycanopathy type G Muscular dystrophy-dystroglycanopathy type H Muscular dystrophy-dystroglycanopathy type I Muscular dystrophy-dystroglycanopathy type J Muscular dystrophy-dystroglycanopathy type K Muscular dystrophy-dystroglycanopathy type L Muscular dystrophy-dystroglycanopathy type M Muscular dystrophy-dystroglycanopathy type N Muscular dystrophy-dystroglycanopathy type O Muscular dystrophy-dystroglycanopathy type P Muscular dystrophy-dystroglycanopathy type Q Muscular dystrophy-dystroglycanopathy type R Muscular dystrophy-dystroglycanopathy type S Muscular dystrophy-dystroglycanopathy type T Muscular dystrophy-dystroglycanopathy type U Muscular dystrophy-dystroglycanopathy type V Muscular dystrophy-dystroglycanopathy type W Muscular dystrophy-dystroglycanopathy type X Muscular dystrophy-dystroglycanopathy type Y Muscular dystrophy-dystroglycanopathy type Z Muscular hypertrophy hepatomegaly-polyhydramnios syndrome Muscular hypotonia-intellectual disability syndrome Muscular pseudohypertrophy hypothyroidism syndrome Musculoskeletal dysplasia with retinal degeneration Musculoskeletal-pulmonary insufficiency syndrome Mutase deficiency, methylmalonylCoA Myasthenia gravis, neonatal transient Myasthenia gravis with thymoma Myasthenia gravis, autoimmune Myasthenia gravis, seronegative Myasthenic syndrome due to acetylcholine receptor deficiency Myasthenic syndrome due to DOK7 deficiency Myasthenic syndrome due to MuSK deficiency Myasthenic syndrome due to rapsyn deficiency Myasthenic syndrome, congenital Myasthenic syndrome, congenital with episodic apnea Myasthenic syndrome, congenital with fast-channel defect Myasthenic syndrome, congenital with slow-channel defect MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterial cutaneous infection Mycobacterial lymphadenitis Mycobacterial osteomyelitis Mycobacterium avium complex infection Mycobacterium abscessus infection Mycobacterium kansasii infection Mycobacterium marinum infection Mycophenolate mofetil embryopathy Mycophenolate-induced colitis Mycoplasma encephalitis Mycoplasma pneumoniae infection Mycoplasma-associated encephalitis Mycosis fungoides with folliculotropism Mycosis fungoides Mycosis fungoides Mycosis fungoides and variants Mycosis fungoides, Alibert-Bazin type Mycosis fungoides, erythrodermic type Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelic limited dorsal malformation Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelitis Myelocerebellar disorder Myelocystocele Myelodysplasia-infection restriction of growth-adrenal hypoplasiagenital anomalies-enteropathy syndrome Myelodysplastic neoplasm with increased blasts Myelodysplastic neoplasm with increased blasts type 1 Myelodysplastic neoplasm with increased blasts type 2 Myelodysplastic neoplasm with low blasts Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic Syndrome Myelodysplastic/ myeloproliferative disease Myeloid hemopathy Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative Disease Myeloproliferative neoplasm Myeloschisis MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myiasis MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myocardial Fibrosis Myocardial Infarction Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy of infancy Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-rimmed vacuoles type 13 Myofibrillar myopathy-titinopathy Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopathy with rimmed ubiquitin-positive autophagic vacuolation Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency Myosclerosis Myosin storage myopathy Myositis tropicans Myospherulosis Myotilinopathy Myotonia fluctuans Myotonia permanens Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 MYRF-related cardiac urogenital syndrome MYSM1 deficiency MYT1L-associated neurodevelopmental disorder MYT1L-related developmental delay-intellectual disability-obesity syndrome Myxofibrosarcoma Myxoid leiomyosarcoma Myxoid malignant fibrous histiocytoma Myxoid neurofibroma Myxoid pleomorphic liposarcoma Myxoid solitary fibrous tumor Myxoid/round cell liposarcoma Myxoinflammatory fibroblastic sarcoma Myxoma of heart Myxoma with fibrous dysplasia Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxomatous mitral valve disease Myxomatous tumor syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1-phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency N-methyl-D-aspartate receptor encephalitis Na channel myasthenia Na-H exchanger 3 deficiency Nabais Sa-de Vries type 1 syndrome Nabais Sa-de Vries type 2 syndrome Nablus mask-like facial syndrome NAD(P)HX dehydratase deficiency NAD(P)HX epimerase deficiency Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAGA deficiency Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail anomaly Nail-patella syndrome Nail-patella-like renal disease Naito-Oyanagi disease Nakagawa angioblastoma Nakamura-Osame syndrome Nance-Horan syndrome Nanophthalmos Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Narcissistic Personality Disorder Narcolepsy Narcolepsy type 1 Narcolepsy type 2 NARP syndrome Nasal dermoid sinus cyst Nasal dorsum fistula Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NCKAP1L-associated hyperinflammatory disorder NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiosis lipoidica Necrobiotic xanthogranuloma Necrolytic acral erythema Necrolytic Migratory Erythema Necrotizing autoimmune myositis Necrotizing cellulitis Necrotizing enterocolitis Necrotizing fasciitis Necrotizing myositis Necrotizing soft tissue infection NEDMABA disorder NEK9-related lethal skeletal dysplasia Nelson syndrome Nemaline myopathy NEMO deleted exon 5 autoinflammatory syndrome Neonatal acute respiratory distress due to surfactant protein deficiency Neonatal adrenoleukodystrophy Neonatal alloimmune neutropenia Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonatal compartment syndrome Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes mellitus Neonatal encephalomyopathy cardiomyopathy-respiratory distress syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Neonatal focal intestinal perforation Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal renal venous thrombosis Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal Volkmann ischemic contracture syndrome Neonatal-onset epilepsy syndrome Neonatal-onset multisystem inflammatory disease Neonatal-onset spinal arteriovenous fistula Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Neonate - Low Apgar Score Neonate - Post Term Neoplastic hypereosinophilic syndrome Nephritis Nephroblastoma Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephronophthisis Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathy-deafness hyperparathyroidism syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic Syndrome Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nestor-Guillermo progeria syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neural tube defect Neuralgic amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency Neuroacanthocytosis Neurocutaneous melanocytosis Neurocutaneous syndrome with epilepsy Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegeneration-spasticity cerebellar atrophy-cortical visual impairment syndrome Neurodegenerative disease with chorea Neurodegenerative disease with dementia Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Neurodevelopmental delaycongenital heart defects-intellectual disability syndrome Neurodevelopmental delayhypotonia-cerebellar ataxia-cardiac conduction defects syndrome Neurodevelopmental delayhypotonia-cerebellar atrophy-cardiac conduction defects syndrome Neurodevelopmental delayintellectual disability-ataxia-feeding difficulty syndrome Neurodevelopmental delayintellectual disability-skeletal defects syndrome Neurodevelopmental delayseizures-ophthalmic anomalies-osteopeniacerebellar atrophy syndrome Neurodevelopmental disorder due to KDM2B-CxxC domain mutation Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental disorder with hearing loss and spastic quadriplegia Neurodevelopmental disorder-slitlike lateral ventricles-intellectual disability syndrome Neurodevelopmental disorderbrain malformation-facial dysmorphismbrachydactyly syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defectskeletal anomalies syndrome Neurodevelopmental disorderhypotonia-stereotypic hand movementsimpaired language Neurodevelopmental disordermicrocephaly-arthrogryposis-structural brain anomalies Neurodevelopmental disorderspasticity-movement disorder-epileptic syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroendocrine carcinoma of pancreas Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm Neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of esophagus Neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of the colon Neuroendocrine neoplasm of the small intestine Neuroendocrine Tumor Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of small bowel Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroendocrine tumor with other location Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis schwannomatosis Neurofibromatosis type 1 Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia-retinitis pigmentosa syndrome Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurological channelopathy due to genetic calcium channel defect Neurological channelopathy due to genetic chloride channel defect Neurological channelopathy due to genetic GABA receptor defect Neurological channelopathy due to genetic glycine receptor defect Neurological channelopathy due to genetic potassium channel defect Neurological channelopathy due to genetic sodium channel defect Neurological muscular channelopathy due to genetic calcium channel defect Neurological muscular channelopathy due to genetic chloride channel defect Neurological muscular channelopathy due to genetic potassium channel defect Neurological muscular channelopathy due to genetic ryanodine receptor defect Neurological muscular channelopathy due to genetic sodium channel defect Neurolymphomatosis Neurometabolic disease Neurometabolic disorder due to serine deficiency Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 1 Neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis type 11 Neuronal ceroid lipofuscinosis type 12 Neuronal ceroid lipofuscinosis type 13 Neuronal ceroid lipofuscinosis type 14 Neuronal ceroid lipofuscinosis type 2 Neuronal ceroid lipofuscinosis type 3 Neuronal ceroid lipofuscinosis type 4 Neuronal ceroid lipofuscinosis type 5 Neuronal ceroid lipofuscinosis type 6 Neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis type 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuronal tumor Neurooculocardiogenitourinary syndrome Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neuroretinitis Neurosensory deafness with dilated cardiomyopathy Neurotrophic keratitis Neurovascular malformation Neutral lipid storage disease Neutral lipid storage disease type M Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with severe cardiovascular involvement Neutropenia-monocytopenia deafness syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevoid basal cell carcinoma syndrome Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn Nevus sebaceus syndrome New-onset refractory status epilepticus Nezelof syndrome NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome NFAT5 haploinsufficiency NFKB1-related immune dysregulation NFU1 deficiency NGLY1 deficiency NHEJ1 deficiency Nicolaides-Baraitser syndrome Nicolau syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nipah encephalitis Nipah virus disease NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK/T-cell lymphoma NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease NMDA receptor encephalitis Nodal marginal zone B-cell lymphoma Nodal T-cell lymphoma with TFH phenotype Nodal T-follicular helper cell lymphoma, follicular type Nodal TFH lymphoma, follicular type Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular urticaria pigmentosa Noma NOMID syndrome Non-24-hour sleep-wake syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-alcoholic Fatty Liver Disease Non-amyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency Non-deforming osteogenesis imperfecta Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-dystrophic myopathy Non-epithelial cancer of ovary Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-fibrotic hypersensitivity pneumonitis Non-fluent variant primary progressive aphasia Non-functioning pancreatic neuroendocrine tumor Non-functioning paraganglioma Non-functioning pituitary adenoma Non-functioning welldifferentiated pancreatic neuroendocrine neoplasm Non-genetic central precocious puberty in male Non-hereditary degenerative ataxia Non-hereditary retinoblastoma Non-HFE-related hemochromatosis Non-histaminic angioedema Non-Hodgkin lymphoma Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-immune hydrops fetalis Non-infectious anterior uveitis Non-inflammatory peeling skin syndrome type A Non-inflammatory vasculopathy Non-insulinoma pancreatogenous hypoglycemia syndrome Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Langerhans cell histiocytosis Non-malignant non-cirrhotic portal vein thrombosis Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-paraneoplastic sensory ganglionopathy Non-paraneoplastic sensory neuronopathy Non-phenylketonuric non-BH4deficiency hyperphenylalaninemia Non-pneumonic Legionnaires disease Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive epilepsy and-or ataxia with myoclonus as a major feature Non-recovering obstetric brachial plexus lesion Non-rhizomelic chondrodysplasia punctata Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-severe combined immunodeficiency Non-specific autoimmune cerebellar ataxia Non-specific early-onset epileptic encephalopathy Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-specific syndromic intellectual disability Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic agammaglobulinemia Non-syndromic amelia Non-syndromic anal stenosis Non-syndromic anorectal malformation Non-syndromic anterior synostotic plagiocephaly Non-syndromic biliary atresia Non-syndromic brain malformation Non-syndromic central nervous system malformation Non-syndromic cloacal malformation Non-syndromic congenital bronchial anomaly Non-syndromic congenital bronchial atresia Non-syndromic congenital phagocyte functional defect Non-syndromic congenital sodium diarrhea Non-syndromic constitutional thrombocytopenia Non-syndromic craniosynostosis Non-syndromic dentinogenesis imperfecta Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation Non-syndromic esophageal malformation Non-syndromic gastrointestinal malformation Non-syndromic genetic hearing loss (DFNA/DFNB/DFNX) Non-syndromic heritable thoracic aortic disease Non-syndromic hypogammaglobulinemia Non-syndromic intercalary limb defect Non-syndromic intestinal malformation Non-syndromic joint formation defect Non-syndromic lambdoid craniosynostosis Non-syndromic limb hypoplasia Non-syndromic limb overgrowth Non-syndromic limb reduction defect Non-syndromic longitudinal limb defect Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic multiple suture synostosis Non-syndromic polydactyly Non-syndromic pontocerebellar hypoplasia Non-syndromic postaxial polydactyly Non-syndromic posterior hypospadias Non-syndromic preaxial polydactyly Non-syndromic renal tract malformation Non-syndromic reticular dysgenesis Non-syndromic retinal nonattachment Non-syndromic sagittal craniosynostosis Non-syndromic single suture synostosis Non-syndromic syndactyly Non-syndromic terminal transverse limb defect Non-syndromic thrombocytopenia Non-syndromic unicoronal craniosynostosis Non-syndromic urogenital tract malformation Non-syndromic uterovaginal malformation Non-syndromic vestibular fistula Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Non-terminal myelocystocele Non-transfusion dependent betathalassemia Non-transplant-related bronchiolitis obliterans Non-tuberculous mycobacterial extrapulmonary disease Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonmosaic Legius syndrome Nonmosaic neurofibromatosis type 1 Nonmosaic neurofibromatosis type 2-related schwannomatosis Nonmosaic schwannomatosis Nonne-Milroy lymphedema Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Norman-Landing disease Normomorphic sialidosis Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma NR1H4 deficiency NR4A2-related neurodevelopmental syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleepwake cycle disturbance NSD2-related syndrome NTHL1-related adenomatous polyposis NTHL1-related polyposis Nuclear factor kappa B subunit 1related immune dysregulation Nude/severe combined immunodeficiency Null cell pituitary adenoma Null pituitary adenoma Null syndrome NUT midline carcinoma O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia OAV spectrum Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to prohormone convertase I deficiency Obesity due to proopiomelanocortin deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidism cardiac hypertrophy-developmental delay syndrome Oblique facial cleft Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obsessive-Compulsive Disorder (OCD) Obstructed hemivagina and ipsilateral renal anomaly Obstructive Uropathy Occipital atretic cephalocele unusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Occult spina bifida Ochoa syndrome Ocular albinism Ocular albinism Nettleship-Falls type Ocular albinism type 1 Ocular albinism with late-onset sensorineural hearing loss Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cicatricial pemphigoid Ocular cystinosis Ocular motor apraxia, Cogan type Ocular siderosis Ocular surface squamous neoplasia Ocular-scoliotic Ehlers-Danlos syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital dysplasia Oculo-digito-esophageal-duodenal syndrome Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculoauricular syndrome Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocutaneous Albinism Oculocutaneous albinism Amish type Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type 8 Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd type Oculodentodigital syndrome Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculogastrointestinal neurodevelopmental syndrome Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia Oculoosteocutaneous syndrome Oculootodental syndrome Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculoskeletodental syndrome Oculotrichoanal syndrome Oculotrichodysplasia Odonto-onycho dysplasia alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digitopalmar syndrome Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome OEIS complex Oesophageal atresia Oesophageal Diverticuli Oesophageal Obstruction Oesophagitis Ofuji disease Ogden syndrome Oguchi disease Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohtahara syndrome Okamoto syndrome Okihiro syndrome Okur-Chung neurodevelopmental syndrome Olfactory neuroblastoma Oligoastrocytoma Oligocone trichromacy Oligodendroglioma Oligodontia Oligomeganephronia Oligophrenin-1 syndrome Oligosaccharidosis Oliver-McFarlane syndrome Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome Omenn syndrome Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophy imperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalomesenteric cyst Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine-Hirschsprung syndrome Onycho-digito-mammary syndrome Onychocytic matricoma Onychomatricoma Onychoosteodysplasia Oophoritis Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD spectrum disorder Open iniencephaly Open spina bifida Open spinal dysraphism Open spinal dysraphism with a myelomeningocele Open spinal dysraphism with a posterior meningocele Open split-cord malformation Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotonia ataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz BBB/G syndrome Opitz C trigonocephaly syndrome Opitz-Kaveggia syndrome Oppenheim dystonia Oppenheim-Urbach disease Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxia simultanagnosia syndrome Optic atrophy plus syndrome (Behr syndrome) Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-deafness polyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic disc pit Optic nerve edema-splenomegaly syndrome Optic pathway glioma Oral dysesthesia Oral submucous fibrosis Oral-facial-digital syndrome Oral-facial-digital syndrome Edwards type Oral-facial-digital syndrome Gabrielli type Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with short stature and brachymesophalangy Orbital Apex Syndrome Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Orbitofacial cleft Organoid nevus syndrome Orgasm-induced epilepsy Ormond disease Ornithine aminotransferase deficiency Ornithine carrier deficiency Ornithine decarboxylase deficiency Ornithosis Oroacral syndrome Orocraniodigital syndrome Orodynia Orofacial clefting syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Oromandibular dystonia Oromandibular-limb anomalies syndrome Oromandibular-limb hypogenesis syndrome Oropharyngeal teratoma Orotidylic decarboxylase deficiency Orthostatic intolerance due to NET deficiency Osebold-Remondini syndrome Osgood-Schlatter disease Osseous Ewing sarcoma Osseous-oculo-dental dysplasia Ossification anomalies psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoarthritis Osteoblastoma Osteochondritis dissecans and short stature Osteochondromuscular dystrophy Osteochondrosis of genetic origin Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta (Brittle bone disease) Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglophonic dwarfism Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelofibrosis Osteonecrosis Osteonecrosis Osteonecrosis of genetic origin Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia Osteopenia-intellectual disability sparse hair syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteopoikilosis Osteopoikilosis-short stature intellectual disability syndrome Osteoporosis Osteoporosis of pregnancy Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoradionecrosis of the mandible Osteosarcoma Osteosarcoma-limb anomalies erythroid macrocytosis syndrome Osteosclerosis Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis premature ovarian failure syndrome Osteosclerotic bone dysplasia Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome Otitis Externa Otitis Media Otodental dysplasia Otofaciocervical syndrome Otofaciocervical syndrome type 2 Otofaciocervical syndrome with thymic hypoplasia Otofaciocervical syndrome without thymic hypoplasia Otomandibular dysplasia Otoonychoperoneal syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian dysgerminoma Ovarian epithelial cancer Ovarian fibroma Ovarian fibrothecoma Ovarian germ cell cancer Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant epithelial tumor Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Mullerian tumor Ovarian malignant non-epithelial tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarioleukodystrophy Overgrowth obesity syndrome Overgrowth or tall stature syndrome with skeletal involvement Overgrowth syndrome Overgrowth syndrome with 2q37 translocation Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Overlap syndromes of autoimmune liver diseases Overlapping connective tissue disease Owren disease OXCT1 deficiency Oxoglutaric aciduria Oxoprolinuria due to oxoprolinase deficiency OXPHOS disease OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease with no known mechanism Oxysterol 7-alpha-hydroxylase deficiency Pancreatic Cysts Pancreatic Duct Obstruction Pancreatic Hyperplasia Pancreatic Neuroendocrine Tumour Pancreatitis Pancreatitis - Bacterial Parkinsonism Patent Ductus Arteriosus PCT - Type I Sporadic PCT - Type II Familial PCT - Type III PCT - Type IV Hepatoerythropoietic Porphyria PCT - Type V Toxic Porphyria Pellagra Pelvic Inflammatory Disease Peptic Ulcer Disease Pericardial Constriction Pericardial Effusion Pericarditis Peripheral Vascular Disease Peritoneal Mesothelial Tumour Peritonitis Pernicious Anaemia Perthes Disease Pfeiffer Syndrome Phaeochromocytoma Pituitary Tumour Pleural Aspergillosis Pleural Mesothelial Tumour Pleurisy Pleuritis Pneumonia Pneumonia - Aspiration Pneumonia - Bacterial Pneumonia - Haemorrhagic Pneumonia - Tuberculous Pneumonitis Pneumothorax Polyarteritis Nodosa Polycystic Ovary Syndrome Polymicrogyria Polymyalgia Rheumatica Polymyositis Polyneuritis Portal Hypertension Pott's Disease of the Spine Prader-Willi Syndrome Pre-Eclampsia Pregnancy - Cytomegalovirus Infection Premature Delivery Primary Acquired Sideroblastic Anaemia Primary Biliary Cirrhosis Primary hyperlipoproteinemia type III (Broad-beta disease) Primary Hypothyroidism Primary Small Intestinal Lymphoma - PSIL Progressive external ophthalmoplegia with riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome) Prolactinoma Prostatitis Protein Losing Enteropathy Pseudo-Obstruction Pseudomembranous Candidiasis Pseudotumour Cerebri Psoriasis Psoriatic arthropathy Pulmonary Artery Agenesis Pulmonary Artery Stenosis Pulmonary Disease - Obstructive Pulmonary Disease - Restrictive Pulmonary Embolus(i) Pulmonary Fibrosis Pulmonary Hypertension Pulmonary Interstitial Disease Pulmonary Oedema - Acute Pulmonary Regurgitation Pulmonary Valve Stenosis Pulmonary Vascular Thrombosis Purpura Fulminans Pyelonephritis Pyoarthrosis Radiculitis Radiculopathy RAEB in Transformation (RAEBIT) Ramsay Hunt Syndrome Refractory Anaemia Refractory Anaemia - Excess Blasts (RAEB) Refractory Anaemia - Ring Sideroblasts (RARS) Reiter's Syndrome Renal Abscess(es) Renal Agenesis Renal Artery Stenosis Renal Carcinoma Renal Cysts Renal Disease Renal Disease Renal Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Rickets Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Scapuloperoneal muscular dystrophy Scapuloperoneal myopathy, neurogenic type Scapuloperoneal spinal muscular atrophy Scapulothoracic dysostosis SCARF syndrome Scarring alopecia-short stature-craniofacial dysmorphism syndrome Schilder disease Schimke immuno-osseous dysplasia Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel phocomelia syndrome Schinzel syndrome Schinzel-Giedion syndrome Schizophrenia Schizophrenia Schmidt syndrome Schneckenbecken dysplasia Schnitzler syndrome Schoenlein-Henoch purpura Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Scleritis Scleroderma Scleroderma, diffuse cutaneous Scleroderma, limited cutaneous Scleromyxedema Sclerosing Cholangitis Sclerosing cholangitis, primary Sclerosing mesenteritis Sclerosing osteomyelitis Sclerosing peritonitis Sclerosing skin disorders, inherited Sclerosteosis Sclerotherapy-related complications Sclerotic fibroma SCN1A-related epileptic encephalopathy SCN2A-related epileptic encephalopathy SCN8A-related epileptic encephalopathy SCN9A-related congenital insensitivity to pain Scofield syndrome SCOT deficiency Scrotal calcinosis Scrotal elephantiasis Scrotal lymphedema Scrotal melanoma Scrotal squamous cell carcinoma Sea-blue histiocyte syndrome Sebaceous carcinoma Sebaceous hyperplasia, familial Sebaceous nevus of Jadassohn syndrome Seborrheic dermatitis Seckel syndrome Secondary Acquired Sideroblastic Anaemia Secondary hemophagocytic lymphohistiocytosis Secondary hyperoxaluria Secondary lymphedema Secondary myelofibrosis Secondary pulmonary hypertension Secondary sclerosing cholangitis Secondary Sjogren syndrome Secondary syphilis Secretory carcinoma of the breast Segawa syndrome Segmental neurofibromatosis Seip-Berardinelli congenital lipodystrophy Seizures, benign familial infantile Seizures, benign familial neonatal Seizures, benign familial neonatal-infantile Seizures, familial focal with variable foci Seizures, genetic epilepsy with febrile seizures plus Seizures, neonatal severe Seizures, progressive myoclonic epilepsy Seizures, reflex epilepsy Seizures, symptomatic focal epilepsy Selenoprotein deficiency disorder Selenoprotein N-related myopathy Self-healing collodion baby Self-healing squamous epithelioma SEMDCJL1-related skeletal dysplasia Semicircular canal dehiscence syndrome Seminoma Senear-Usher syndrome Sensory ataxic neuropathy Sensory neuropathy, hereditary Sensory processing disorder Septic arthritis Septic shock Septic Shock Septicaemia Septicaemia - Gram negative Septicemia Septo-optic dysplasia Septo-optic dysplasia spectrum Septo-optic pituitary dysplasia Serine biosynthesis defect Serine deficiency disorders Serotonin syndrome Serous cystadenoma of pancreas Serpiginous choroiditis Sertoli cell tumor Sertoli-Leydig cell tumor Serum amyloid A amyloidosis SeSAME syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Severe Combined Degeneration Severe combined immunodeficiency, T-B+ phenotype Severe combined immunodeficiency, T-B+NK+ phenotype Severe combined immunodeficiency, T-B+NK- phenotype Severe combined immunodeficiency, T-B- phenotype Severe combined immunodeficiency, T-B-NK+ phenotype Severe combined immunodeficiency, T-B-NK- phenotype Severe congenital neutropenia Severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to HAX1 deficiency Severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to VPS45 deficiency Severe cutaneous adverse drug reaction Severe developmental delay-epilepsy-short stature-deep set eyes syndrome Severe early-childhood-onset retinal dystrophy Severe fever with thrombocytopenia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome Severe megalencephaly-cortical malformation-capillary malformation syndrome Severe myoclonic epilepsy in infancy Severe neonatal episodic laryngospasm Severe neonatal-onset encephalopathy with microcephaly Severe persistent hyperinsulinemic hypoglycemia of infancy Severe skeletal dysplasia-intellectual disability-progeroid features syndrome Severe thrombocytopenia with Philadelphia chromosome-positive chronic myeloid leukemia Severe X-linked intellectual disability, Gustavson type Sezary Syndrome Shapiro syndrome Sharp syndrome Shashi-Pena syndrome Sheehan syndrome Sheldon-Hall syndrome Shiga toxin-associated hemolytic uremic syndrome Shigellosis Shin splints syndrome Shinzel-Giedion midface retraction syndrome Short QT syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short stature due to growth hormone deficiency Short stature with microcephaly and distinctive facies Short stature with pigmentary skin changes and skeletal anomalies Short stature with precocious puberty and dysmorphic features Short stature with speech delay and facial dysmorphism Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-facial dysmorphism-skeletal anomalies syndrome Short stature-hyperextensible joints-hernia-ocular depression-Rieger anomaly syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic nerve atrophy-Pelger-Huet anomaly syndrome Short stature-renal disease syndrome Short stature-skeletal anomalies-intellectual disability syndrome Short stature-slow hair growth-intellectual disability syndrome Short stature-valvular heart disease-characteristic facies syndrome Shoulder girdle myopathy Shprintzen syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg syndrome Sialadenitis, chronic recurrent Sialidosis Sialidosis type 1 Sialidosis type 2 Sicca syndrome Sickle cell disease with crisis Sickle cell-beta thalassemia Sideroblastic anemia Sideroblastic anemia, X-linked Siderosis, pulmonary SIDS Siegel syndrome Siemens syndrome Sifrim-Hitz-Weiss syndrome SIL1-related Marinesco-Sjögren syndrome Silver-Russell syndrome Simpson - Golabi - Behmel Syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinus histiocytosis with massive lymphadenopathy Sinus node dysfunction Sinus pericranii Sirenomelia SIRS Sjogren's Syndrome Sjögren syndrome with extraglandular involvement Sjögren syndrome with glandular involvement Sjögren syndrome, primary Sjögren syndrome, secondary Sjögren-Larsson syndrome Skeletal dysplasia with brachydactyly and joint laxity Skeletal dysplasia with microcephaly and intellectual disability Skeletal dysplasia-intellectual disability syndrome Skeletal muscle calcium channelopathy Skeletal muscle channelopathy Skeletal muscle chloride channelopathy Skeletal muscle potassium channelopathy Skeletal muscle ryanodine receptor channelopathy Skeletal muscle sodium channelopathy Skin - Squamous Cell Carcinoma Skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin peeling syndrome Skin peeling syndrome, acral type Skin peeling syndrome, generalized inflammatory type Skin peeling syndrome, generalized non-inflammatory type Skin peeling syndrome, localized type Skull base chordoma Skull dysplasia, familial Sleep Deprivation Slipped capital femoral epiphysis Slow channel congenital myasthenic syndrome Slow transit constipation SMARD1 Smith syndrome Smith-Magenis syndrome SMN1-related spinal muscular atrophy Smouldering multiple myeloma Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOFT syndrome Sotos syndrome type 2 Sotos syndrome type 3 Sotos-like syndrome Sowden syndrome Sparing syndrome Spastic ataxia Spastic paraplegia type 1 Spastic paraplegia type 10 Spastic paraplegia type 11 Spastic paraplegia type 12 Spastic paraplegia type 13 Spastic paraplegia type 14 Spastic paraplegia type 15 Spastic paraplegia type 16 Spastic paraplegia type 17 Spastic paraplegia type 18 Spastic paraplegia type 19 Spastic paraplegia type 2 Spastic paraplegia type 20 Spastic paraplegia type 21 Spastic paraplegia type 22 Spastic paraplegia type 23 Spastic paraplegia type 24 Spastic paraplegia type 25 Spastic paraplegia type 26 Spastic paraplegia type 27 Spastic paraplegia type 28 Spastic paraplegia type 29 Spastic paraplegia type 3 Spastic paraplegia type 30 Spastic paraplegia type 31 Spastic paraplegia type 32 Spastic paraplegia type 33 Spastic paraplegia type 34 Spastic paraplegia type 35 Spastic paraplegia type 36 Spastic paraplegia type 37 Spastic paraplegia type 38 Spastic paraplegia type 39 Spastic paraplegia type 4 Spastic paraplegia type 40 Spastic paraplegia type 41 Spastic paraplegia type 42 Spastic paraplegia type 43 Spastic paraplegia type 44 Spastic paraplegia type 45 Spastic paraplegia type 46 Spastic paraplegia type 47 Spastic paraplegia type 48 Spastic paraplegia type 49 Spastic paraplegia type 5 Spastic paraplegia type 50 Spastic paraplegia type 51 Spastic paraplegia type 52 Spastic paraplegia type 53 Spastic paraplegia type 54 Spastic paraplegia type 55 Spastic paraplegia type 56 Spastic paraplegia type 57 Spastic paraplegia type 58 Spastic paraplegia type 59 Spastic paraplegia type 6 Spastic paraplegia type 60 Spastic paraplegia type 61 Spastic paraplegia type 62 Spastic paraplegia type 63 Spastic paraplegia type 64 Spastic paraplegia type 65 Spastic paraplegia type 66 Spastic paraplegia type 67 Spastic paraplegia type 68 Spastic paraplegia type 69 Spastic paraplegia type 7 Spastic paraplegia type 70 Spastic paraplegia type 71 Spastic paraplegia type 72 Spastic paraplegia type 73 Spastic paraplegia type 74 Spastic paraplegia type 75 Spastic paraplegia type 76 Spastic paraplegia type 77 Spastic paraplegia type 78 Spastic paraplegia type 79 Spastic paraplegia type 8 Spastic paraplegia type 80 Spastic paraplegia type 81 Spastic paraplegia type 82 Spastic paraplegia type 83 Spastic paraplegia type 84 Spastic paraplegia type 85 Spastic paraplegia type 86 Spastic paraplegia type 87 Spastic paraplegia type 88 Spastic paraplegia type 89 Spastic paraplegia type 9 Spastic tetraplegia Spasticity with white matter abnormalities Spasticity, hereditary Spasticity-ataxia syndrome Spasticity-intellectual disability-seizures syndrome Spasticity-paraplegia-neuropathy syndrome Speckled lentiginous nevus syndrome Speech delay-intellectual disability syndrome Speech sound disorder Spherocytosis, hereditary Spherophakia Sphingolipidosis Sphingomyelin lipidosis Sphingomyelinase deficiency Spina bifida Spina bifida occulta Spinal and bulbar muscular atrophy Spinal arteriovenous malformation Spinal cord astrocytoma Spinal cord compression Spinal Cord Compression Spinal cord ependymoma Spinal cord injury Spinal cord ischemia Spinal cord malformation Spinal cord tumor Spinal dysraphism Spinal Epidural Abscess Spinal epidural lipomatosis Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, congenital with arthrogryposis Spinal muscular atrophy, distal Spinal muscular atrophy, distal hereditary motor neuropathy type Spinal muscular atrophy, juvenile Spinal muscular atrophy, non-5q type Spinal muscular atrophy, type 0 Spinal muscular atrophy, type 1 Spinal muscular atrophy, type 2 Spinal muscular atrophy, type 3 Spinal muscular atrophy, type 4 Spinal muscular atrophy, X-linked Spinal neurofibromatosis Spinal osteochondroma Spinal osteosarcoma Spinal paraganglioma Spinal schwannoma Spinal stenosis Spinal subdural hematoma Spinal subependymoma Spinal teratoma Spinal tuberculosis Spinal vascular malformation Spinal vascular tumor Spinalis muscle myopathy Spindle cell carcinoma Spindle cell hemangioma Spindle cell lipoma Spindle cell melanoma Spindle cell oncocytoma of the pituitary gland Spindle cell sarcoma Spine Abscess Spinocerebellar Ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 24 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27A Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 33 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 39 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 44 Spinocerebellar ataxia type 45 Spinocerebellar ataxia type 46 Spinocerebellar ataxia type 47 Spinocerebellar ataxia type 48 Spinocerebellar ataxia type 49 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 50 Spinocerebellar ataxia type 51 Spinocerebellar ataxia type 52 Spinocerebellar ataxia type 53 Spinocerebellar ataxia type 54 Spinocerebellar ataxia type 55 Spinocerebellar ataxia type 56 Spinocerebellar ataxia type 57 Spinocerebellar ataxia type 58 Spinocerebellar ataxia type 59 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 60 Spinocerebellar ataxia type 61 Spinocerebellar ataxia type 62 Spinocerebellar ataxia type 63 Spinocerebellar ataxia type 64 Spinocerebellar ataxia type 65 Spinocerebellar ataxia type 66 Spinocerebellar ataxia type 67 Spinocerebellar ataxia type 68 Spinocerebellar ataxia type 69 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 70 Spinocerebellar ataxia type 71 Spinocerebellar ataxia type 72 Spinocerebellar ataxia type 73 Spinocerebellar ataxia type 74 Spinocerebellar ataxia type 75 Spinocerebellar ataxia type 76 Spinocerebellar ataxia type 77 Spinocerebellar ataxia type 78 Spinocerebellar ataxia type 79 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 80 Spinocerebellar ataxia type 81 Spinocerebellar ataxia type 82 Spinocerebellar ataxia type 83 Spinocerebellar ataxia type 84 Spinocerebellar ataxia type 85 Spinocerebellar ataxia type 86 Spinocerebellar ataxia type 87 Spinocerebellar ataxia type 88 Spinocerebellar ataxia type 89 Spinocerebellar ataxia type 9 Spinocerebellar ataxia type 90 Spinocerebellar ataxia type 91 Spinocerebellar ataxia type 92 Spinocerebellar ataxia type 93 Spinocerebellar ataxia type 94 Spinocerebellar ataxia type 95 Spinocerebellar ataxia type 96 Spinocerebellar ataxia type 97 Spinocerebellar degeneration with peripheral neuropathy Spinocerebellar degeneration, autosomal dominant Spinocerebellar degeneration, autosomal recessive Spinocerebellar syndrome with epilepsy Spinocerebellar syndrome with pyramidal signs Spinocerebellar syndrome with retinal degeneration Spinocerebellar syndrome with sensorineural hearing loss Spinocerebellar syndrome with spasticity Spitz nevus Splenic abscess Splenic artery aneurysm Splenic cyst Splenic marginal zone lymphoma Splenic Rupture Splenic sequestration crisis Splenic vein thrombosis Splenomegaly with cytopenia syndrome Splenomegaly, hereditary Split hand/foot malformation Split hand/foot malformation type 1 Split hand/foot malformation type 2 Split hand/foot malformation type 3 Split hand/foot malformation type 4 Split hand/foot malformation type 5 Split hand/foot malformation type 6 Split hand/foot malformation type 7 Split hand/foot malformation type 8 Split hand/foot malformation with long bone deficiency Split hand/foot malformation with tibial aplasia Split notochord syndrome Splitting of the spinal cord Spondyloarthritis Spondyloarthritis associated with inflammatory bowel disease Spondyloarthritis, undifferentiated Spondyloarthropathy Spondyloarthropathy, axial Spondyloarthropathy, peripheral Spondylocostal dysostosis Spondylocostal dysostosis type 1 Spondylocostal dysostosis type 10 Spondylocostal dysostosis type 11 Spondylocostal dysostosis type 12 Spondylocostal dysostosis type 13 Spondylocostal dysostosis type 14 Spondylocostal dysostosis type 15 Spondylocostal dysostosis type 16 Spondylocostal dysostosis type 17 Spondylocostal dysostosis type 18 Spondylocostal dysostosis type 19 Spondylocostal dysostosis type 2 Spondylocostal dysostosis type 20 Spondylocostal dysostosis type 3 Spondylocostal dysostosis type 4 Spondylocostal dysostosis type 5 Spondylocostal dysostosis type 6 Spondylocostal dysostosis type 7 Spondylocostal dysostosis type 8 Spondylocostal dysostosis type 9 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, tarda X-linked Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia with cone-rod dystrophy Spondylometaphyseal dysplasia with dentinogenesis imperfecta Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, axial type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, filamin A type Spondylometaphyseal dysplasia, handigodu type Spondylometaphyseal dysplasia, Japanese type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, plasmalemma vesicle-associated protein type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, short limb type Spondylometaphyseal dysplasia, short limb-abnormal calcification type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, with corneal dystrophy Spondylometaphyseal dysplasia, with dentinogenesis imperfecta Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-corneal dystrophy syndrome Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondylothoracic dysostosis Spondylothoracic dysostosis, autosomal recessive Spongiform leukoencephalopathy with chronic euphoria Spontaneous Abortion Spontaneous coronary artery dissection Spontaneous intracranial hypotension Spontaneous periodic hypothermia Spontaneous pneumothorax Spontaneous splenic rupture Spotted fever rickettsiosis Sprengel deformity Sprinz-Nelson syndrome SPTLC1-related hereditary sensory and autonomic neuropathy SQUAMOS syndrome Squamous cell carcinoma of the conjunctiva Squamous cell carcinoma of the eyelid Squamous cell carcinoma of the lip Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the skin Squamous odontogenic tumor SRD5A3-congenital disorder of glycosylation SRSF2-related myelodysplastic syndrome SSADH deficiency SSPE Staphylococcal scalded skin syndrome Stargardt disease Stargardt disease type 1 Stargardt disease type 3 Starvation ketoacidosis Static encephalopathy Steatocystoma multiplex Steele-Richardson-Olszewski syndrome Steinert disease Stenosis of aqueduct of Sylvius Stenotrophomonas maltophilia infection Stensen duct obstruction Sterility - Female Sterility - Male Steroid-resistant nephrotic syndrome Steroid-sensitive nephrotic syndrome Stevens Johnson Syndrome Stevens-Johnson syndrome Stewart-Treves syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stiff skin syndrome Still disease, adult-onset Stomatin-deficient cryohydrocytosis Stomatocytosis, dehydrated hereditary Stomatocytosis, overhydrated hereditary Stormorken syndrome Stromme syndrome Sturge-Weber syndrome Stuve-Wiedemann syndrome Subacute Combined Degeneration of Cord Subacute sclerosing panencephalitis Subacute Sclerosing Panencephalitis - SSPE Subaortic stenosis, discrete Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical laminar heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal heterotopia Subependymal nodular heterotopia Subependymal nodules Subependymoma Subungual exostosis Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital Sudanophilic leukodystrophy Sudden infant death syndrome Sudden unexplained death in epilepsy Sudden unexplained nocturnal death syndrome Sulfite oxidase deficiency Sulfite Oxidase Deficiency Sulfite oxidase deficiency, isolated Sulfoglucuronosyl paragloboside ceramide lipidosis Sulfur amino acid metabolism disorder Superior mesenteric artery syndrome Superior Vena Caval Obstruction Supranuclear gaze palsy Supratentorial primitive neuroectodermal tumor Surfactant metabolism dysfunction, pulmonary Surfactant protein B deficiency Surfactant protein C deficiency Surfactant protein deficiency, congenital Susac syndrome Sweet syndrome Swyer syndrome Swyer-James-MacLeod syndrome Sydenham chorea Sydenham's Chorea Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal Symphalangism, proximal Synapsin-related neurodevelopmental disorder Syncope, catecholaminergic polymorphic ventricular tachycardia-related Syndromic craniosynostosis Syndromic deafness Syndromic intellectual disability Syndromic microphthalmia Syndromic obesity Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic outer canthal malposition Syndromic palpebral coloboma Syndromic recessive X-linked ichthyosis Syndromic renal or urinary tract malformation Syndromic respiratory or mediastinal malformation Syndromic retinal dystrophy Syndromic rod-cone dystrophy Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic telecanthus Syndromic urogenital tract malformation Syndromic uterovaginal malformation Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Syndromic vitreoretinopathy Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related arthrogryposis multiplex congenita SYNGAP1-related developmental and epileptic encephalopathy Syngnathia-cleft palate syndrome Syngnathia-multiple anomalies syndrome Synovial chondromatosis Synovial sarcoma Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synspondylism Syntelencephaly Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic autoimmune disease Systemic autoinflammatory disease due to NEMO exon 5 deletion Systemic candidiasis Systemic capillary leak syndrome Systemic disease with glomerulopathy as a major feature Systemic disease with skin involvement Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic karyomegaly Systemic Lupus Erythematosus Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic polyarteritis nodosa Systemic primary carnitine deficiency Systemic sarcoidosis (Boeck) Systemic Sclerosis Systemic sclerosis Systemic sclerosis sine scleroderma Systemic vasculitis associated with glomerulopathy T-cell acute lymphoblastic leukemia T-cell large granular lymphocyte leukemia T-cell non-Hodgkin lymphoma T-cell prolymphocytic leukemia Takotsubo cardiomyopathy Takotsubo cardiomyopathy (stress-induced cardiomyopathy) Talaromycosis (Talaromyces marneffei infection) TANGO2-related metabolic encephalopathy-arrhythmia syndrome TAR syndrome (thrombocytopenia-absent radius syndrome) TARP syndrome Tarui disease (glycogen storage disease type VII) Tatton-Brown-Rahman overgrowth syndrome Taussig-Bing syndrome TBCD TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome TCA cycle disorder TCF12-related syndromic craniosynostosis TCR-alpha-beta-positive T-cell deficiency TDO syndrome Teebi hypertelorism syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric fluid collections-intrapulmonary shunting syndrome Telangiectatic capillary malformation Telecanthus-hypertelorism-strabismus-pes cavus syndrome Telethonin-related limb-girdle muscular dystrophy R7 Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 13q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 5q Telomeric deletion 9p Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 1p36 Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric monosomy 3p Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temple-Baraitser syndrome Temporal arteritis (giant cell arteritis) Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal extramedullary conus spinal cord lipoma Terminal myelocystocele Terminal osseous dysplasia-pigmentary defects syndrome Terrien marginal degeneration Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessier number 7 facial cleft Testicular agenesis Testicular Dysgenesis Testicular germ cell tumor Testicular regression syndrome Testicular seminoma Testicular sex cord-stromal tumor TET3-related Beck-Fahrner syndrome Tetra X Tetraamelia-multiple malformations syndrome Tetragametic chimerism syndrome Tetrahydrobiopterin-responsive phenylketonuria Tetrahydrobiopterin-unresponsive phenylketonuria Tetramelic monodactyly Tetrasomy 11q24.1 Tetrasomy 15q26 Tetrasomy 18p syndrome Tetrasomy 21 syndrome Tetrasomy 5p syndrome Tetrasomy 9p syndrome Tetrasomy X syndrome Teunissen-Cremers syndrome TFE3-related neurodevelopmental disorder TFR2-related hemochromatosis TFRC-related combined immunodeficiency Thakker-Donnai syndrome Thalassaemia Intermedia Thalassaemia Major Thalassaemia Trait Thalidomide embryopathy Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia-cloverleaf skull syndrome Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder Theca steroid-producing cell tumor of ovary Theodore superior limbic keratoconjunctivitis Therapy-related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thickened earlobes-conductive hearing loss syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bones-dysmorphism syndrome Thinking epilepsy Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic malformation Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-fever renal insufficiency-organomegaly syndrome Thromboembolism Thrombomodulin-related bleeding disorder Thrombotic microangiopathy Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Thumb deformity-alopecia pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Thurston syndrome Thygeson superficial punctate keratitis Thymic carcinoma Thymic epithelial tumor Thymic neuroendocrine tumor Thymic Neuroendocrine Tumour Thymoma hypogammaglobulinemia syndrome Thyrocerebrorenal syndrome Thyroid Carcinoma Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid-renal-digital anomalies Thyroiditis Thyrotoxic periodic paralysis Thyrotoxicosis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial muscular dystrophy Tibiofibular diaphyseal toxopachyosteosis Tick-borne encephalitis Tietz syndrome Timothy syndrome Timothy syndrome type 1 Timothy syndrome type 2 TINU syndrome Titin-related limb-girdle muscular dystrophy R10 TJP2 deficit TKT deficiency TLK2-related neurodevelopmental disorder TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome TM2D3-related neurodevelopmental disorder TMEM147-related neurodevelopmental disorder TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Torpedo maculopathy Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tortuosity of retinal arteries Total color blindness Total early-onset cataract Touraine-Solente-Gole syndrome Townes syndrome Toxic dermatosis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic or drug-related embryofetopathy Toxic pustuloderma Toxin-mediated infectious botulism Toxocariasis Toxoplasma embryofetopathy TPHA TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay Traboulsi syndrome Tracheal agenesis Tracheal anomaly Tracheal atresia Tracheal Obstruction Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica TRAF7-associated heart defect-digital anomalies-facial dysmorphism syndrome Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient antenatal Bartter syndrome Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal TSH receptor-blocking antibodies Transient congenital hypothyroidism due to neonatal hyperthyrotropinemia Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient Ischaemic Attacks Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient predisposition to invasive pyogenic bacterial infection Transient pseudohypoaldosteronism Transient reactive papulotranslucent acrokeratoderma Transient tyrosinemia of the newborn Transition renal cell carcinoma Transitional atrioventricular canal defect Transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract Transitional PMD Transketolase deficiency Translocation renal cell carcinoma Transplacentally acquired neonatal autoimmune disease Transplant-related bronchiolitis obliterans Transposition of the great arteries Transposition of the great arteries and conotruncal heart defects Transverse facial cleft Transverse Myelitis Transverse vaginal septum TRAP sequence TRAPPC11-related limb-girdle muscular dystrophy R18 Traumatic avascular necrosis Traumatic AVN Traumatic myiasis TRDN-related isolated congenital Long QT syndrome Treacher-Collins syndrome Trehalase deficiency Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triatrial heart Trichinellosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichofolliculoma Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tricuspid Regurgitation Trigeminal autonomic cephalalgia Trigeminal neuralgia Trigeminal trophic syndrome Triglyceride deposit cardiomyovasculopathy Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Trilineage bone marrow failure-developmental delay syndrome TRIM22-related IBD TRIM22-related inflammatory bowel disease TRIM32-related limb-girdle muscular dystrophy R8 Trimethylaminuria Triophthalmia Triopia Triose phosphate-isomerase deficiency TRIP13-related Wilms tumor predisposition syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triple A syndrome Triple H syndrome Triple X Syndrome Triplication 15q25-qter Triplication 15q26 Triplo-X syndrome Triploidy syndrome Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 10 mosaicism Trisomy 10p syndrome Trisomy 12 mosaicism Trisomy 12p syndrome Trisomy 13 syndrome Trisomy 14 mosaicism Trisomy 15 mosaicism Trisomy 16 mosaicism Trisomy 17 mosaicism Trisomy 17p syndrome Trisomy 18 syndrome Trisomy 18p syndrome Trisomy 1q syndrome Trisomy 2 mosaicism Trisomy 20 mosaicism Trisomy 20p syndrome Trisomy 21 Trisomy 22 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism Trisomy 4p syndrome Trisomy 5 mosaicism Trisomy 5p syndrome Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 8p syndrome Trisomy 8q syndrome Trisomy 9 mosaicism Trisomy 9p syndrome Trisomy X syndrome Tritan colour blindness Tritanopia Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRPV4-related bone disorder True congenital pancreatic cyst True congenital shoulder dislocation True microcephaly True myelomeningocele True unicornuate uterus Truncus arteriosus Tsao-Ellingson syndrome TSC2/PKD1 contiguous gene syndrome TSH-secreting pituitary adenoma TSHZ3-related congenital anomalies of kidney-urinary tract syndrome Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever Tubal cancer Tuberculosis Tuberculosis of respiratory system Tuberous Sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tufted angioma Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor of cranial and spinal nerves Tumor of testis and paratestis Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tunnel subaortic stenosis Turban tumor syndrome Turner Syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turnpenny-Fry syndrome Twin anemia-polycythemia sequence Twin-reversed arterial perfusion sequence Twin-to-twin transfusion syndrome Tylosis with oesophageal cancer Tylosis-oesophageal carcinoma syndrome Type 1 galactosemia Type 1 interferonopathy Type 1 syndactyly-microcephaly-intellectual disability syndrome Type 2 galactosemia Type 3 galactosemia Type 4 galactosemia Type I OI Type II OI Type III OI Type IV OI Typhoidal salmonellosis Typical hemolytic uremic syndrome Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Ulcerative Colitis Undifferentiated Pleomorphic Sarcoma Unifocal Langerhans Cell Histiocytosis Uniparental Disomy Univentricular Heart Universal Melanosis Unroofed Coronary Sinus Unspecified Mitochondrial Disorder Upington Disease Upper Respiratory Tract Infections Upper Tract Urothelial Carcinoma Urachal Carcinoma Urachal Tumour Urbach-Wiethe Disease Urban-Rifkin-Davis Syndrome Urban-Rogers-Meyer Syndrome Urban-Schosser-Spohn Syndrome Ureter Carcinoma Uridine 5'-monophosphate hydrolase deficiency Uridine Monophosphate Synthetase Deficiency Urinary Tract Infection s Urioste Syndrome Urocanic Aciduria Urofacial Syndrome Urogenital Tuberculosis Urological Carcinoma Urothelial Carcinoma Urrets-Zavalia Syndrome Uterine Carcinosarcoma Uterine Malignant Mixed Mullerian Tumour UV-sensitive Syndrome Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveomeningitic Syndrome Vaccine-induced immune thrombotic thrombocytopenia VACTERL association VACTERL with hydrocephalus Vacuolar aggregate myopathy Vacuolar sorting protein 45 deficiency Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell tumor Valine metabolic defect Valproic acid embryopathy Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome Vanishing bone disease Vanishing testis syndrome Váradi syndrome Variable age-onset epilepsy syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant Creutzfeldt-Jakob disease Variant of Guillain-Barré syndrome Vascular Ehlers-Danlos polymicrogyria syndrome Vascular Ehlers-Danlos syndrome Vasculitis-autoinflammation immunodeficiency-hematologic defects syndrome Vasoproliferative tumor of the retina Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VCAN-related vitreoretinopathy Vegetant intravascular hemangioendothelioma Vegetative pyoderma gangrenosum VEGFC-related congenital primary lymphedema Vein of Galen arteriovenous malformation Velo-facial-skeletal syndrome Venezuelan hemorrhagic fever Venolymphatic malformation Venous malformation of the spleen Venous malformations with glomus cells Ventilator-induced diaphragmatic dysfunction Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Ventricular septal defect with aortic insufficiency Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verrucous venous malformation Very early-onset schizophrenia Vesicourachal diverticulum VEXAS syndrome Vibratory angioedema Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome Viral hemorrhagic fever Viral Infections Viral myositis Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral arteriovenous malformation Visceral calciphylaxis Visceral fibromuscular dysplasia Visceral heterotaxy Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visual snow syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Vitamin B6-dependent seizures Vitamin D-dependent rickets type I Vitamin D-dependent rickets type II Vitelliform macular dystrophy (Best vitelliform macular dystrophy) Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo Vitreoretinopathy Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease Volcke-Soekarman syndrome Von Meyenburg complexes disease Von Voss-Cherstvoy syndrome VPS11-related autosomal recessive hypomyelinating leukodystrophy VPS45 deficiency Vulto-van Silfout-de Vries syndrome Vulvar adenocarcinoma Vulvar basal cell carcinoma Vulvar carcinoma Vulvar intraepithelial neoplasia Vulvar squamous cell carcinoma Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease Västerbotten dystrophy Weill - Marchesani Syndrome West Syndrome ( Infantile Spasms ) Wilms Tumor Wilson's Disease Wolff-Parkinson-White Syndrome X Chromosome Number Anomaly Syndrome X Chromosome Number Anomaly with Female Phenotype Syndrome X Chromosome Number Anomaly with Male Phenotype Syndrome X-linked acqueductal stenosis X-linked Acrogigantism X-linked Adrenal Hypoplasia Congenita X-linked agammaglobulinemia (Bruton) X-linked AHC X-linked Alpha-thalassemia Intellectual Disability Syndrome X-linked Alport Syndrome X-linked Alport Syndrome-diffuse Leiomyomatosis X-linked Angelman-like Syndrome X-linked aqueductal stenosis X-linked aqueductal stenosis with hydrocephalus X-linked Ataxia-Deafness Syndrome X-linked ataxia-dementia syndrome X-linked ataxia-hearing loss syndrome X-linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 X-linked Autoinflammatory and Immunodeficiency Disease Associated with ELF4 X-linked Branchial Arch Syndrome X-linked bulbospinal muscular atrophy X-linked Calvarial Hyperostosis X-linked Cardioskeletal Myopathy and Neutropenia X-linked Central Congenital Hypothyroidism with Late-onset Macroorchidism X-linked Centronuclear Myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral degeneration syndrome X-linked cerebral-cerebellar degeneration syndrome X-linked Cerebral-Cerebellar-Coloboma Syndrome X-linked Charcot-Marie-Tooth Disease X-linked chondrodysplasia punctata type 2 X-linked Cleft Palate and Ankyloglossia X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital anemia neutropenia syndrome X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked Congenital Generalized Hypertrichosis X-linked corneal dermoid X-linked Creatine Transporter Deficiency X-linked Cutaneous Amyloidosis X-linked deafness syndrome X-linked deafness-intellectual disability syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal hereditary motor neuropathy type 3 X-linked distal myopathy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria X-linked dystonia syndrome X-linked Dystonia-Parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss Muscular Dystrophy X-linked Endothelial Corneal Dystrophy X-linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome X-linked Erythropoietic Protoporphyria X-linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome X-linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked Hearing Loss-Intellectual Disability Syndrome X-linked Hereditary Motor and Sensory Neuropathy X-linked hereditary neuropathy X-linked hereditary sensory and autonomic neuropathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked Hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked Hyper-IgM Syndrome X-linked Hypohidrotic Ectodermal Dysplasia X-linked Immune Dysregulation with Inflammatory Bowel Disease due to ELF4 Deficiency X-linked immunodeficiency syndrome X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia X-linked Immunoneurologic Disorder X-linked Incomplete Achromatopsia X-linked intellectual disability cardiomegaly-congestive heart failure syndrome X-linked intellectual disability cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability cubitus valgus-dysmorphism syndrome X-linked Intellectual Disability due to GRIA3 Mutations X-linked Intellectual Disability due to PQBP1 Mutations X-linked intellectual disability dysmorphism-cerebral atrophy syndrome X-linked intellectual disability epilepsy syndrome X-linked intellectual disability global developmental delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability gynecomastia-obesity syndrome X-linked intellectual disability hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability hypotonia-movement disorder syndrome X-linked intellectual disability limb spasticity-retinal dystrophy-arginine vasopressin deficiency X-linked intellectual disability microcephaly-cortical malformation-thin habitus syndrome X-linked intellectual disability microcephaly-testicular failure syndrome X-linked intellectual disability progressive joint contractures-dysmorphism syndrome X-linked intellectual disability psychosis-macroorchidism syndrome X-linked intellectual disability seizures syndrome X-linked intellectual disability syndrome X-linked Intellectual Disability Syndrome, Lubs Type X-linked Intellectual Disability with Isolated Growth Hormone Deficiency X-linked Intellectual Disability with Marfanoid Habitus X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome X-linked intellectual disability-dystonia-dysarthria syndrome X-linked intellectual disability-hypotonia syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked isolated growth hormone deficiency X-linked Juvenile Retinoschisis X-linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-linked Lethal Multiple Pterygium Syndrome X-linked lissencephaly type 1 X-linked Lissencephaly with Abnormal Genitalia X-linked Mandibulofacial Dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod Syndrome X-linked Mendelian Susceptibility to Mycobacterial Diseases X-linked microcephaly syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked Moesin-associated Immunodeficiency X-linked motor neuron disease X-linked Myopathy with Excessive Autophagy X-linked Myopathy with Postural Muscle Atrophy X-linked Myotubular Myopathy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked Neurodegenerative Syndrome, Bertini Type X-linked Neurodegenerative Syndrome, Hamel Type X-linked neurodevelopmental disorder X-linked Non Progressive Cerebellar Ataxia X-linked Non-syndromic Hearing Loss X-linked Non-syndromic Intellectual Disability X-linked Ohdo Syndrome X-linked Osteoporosis with Fractures X-linked parkinsonism X-linked Parkinsonism-Spasticity Syndrome X-linked peripheral neuropathy X-linked pigmentary disorder X-linked Progressive Cerebellar Ataxia X-linked progressive spastic paraplegia X-linked Pure Spastic Paraplegia X-linked Recessive Hypercalciuric Hypophosphatemic Rickets X-linked Recessive Nephrolithiasis X-linked Recessive Ocular Albinism X-linked Reticulate Pigmentary Disorder X-linked retinal dystrophy X-linked Scapuloperoneal Muscular Dystrophy X-linked scapuloperoneal syndrome X-linked Severe Congenital Neutropenia X-linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection X-linked Sideroblastic Anemia X-linked Sideroblastic Anemia with Ataxia X-linked sideroblastic anemia with spinocerebellar ataxia X-linked skeletal dysplasia X-linked Skeletal Dysplasia-Intellectual Disability Syndrome X-linked spastic paraplegia X-linked Spastic Paraplegia Type 16 X-linked Spastic Paraplegia Type 2 X-linked Spastic Paraplegia Type 34 X-linked spasticity syndrome X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome X-linked Spinal and Bulbar Muscular Atrophy X-linked spinal muscular atrophy type 2 X-linked Spinal Muscular Atrophy with Respiratory Distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type X-linked thrombocytopenia X-linked thrombocytopenia syndrome X-linked thrombocytopenia with normal platelets X-linked vascular malformation syndrome Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Xia-Gibbs syndrome XIAP deficiency syndrome XK aprosencephaly syndrome XK syndrome Xp deletion syndrome Xp21 contiguous gene deletion syndrome Xp21 deletion syndrome Xp21 microdeletion syndrome Xp22.13-p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq duplication syndrome Xq12-q13.3 duplication syndrome Xq21 microdeletion syndrome Xq22.3 microdeletion syndrome Xq25 microduplication syndrome Xq25 microtriplication Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome XX, male syndrome XXX syndrome XY gonadal agenesis syndrome XY sex reversal-adrenal failure XY type gonadal dysgenesis-associated anomalies syndrome Xylitol dehydrogenase deficiency XYLT1-CDG XYY Syndrome	Choose Sign
1-alpha-hydroxylase deficiency 10p12p11 microdeletion syndrome 10p13-p14 deletion syndrome 10p15.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11-beta-hydroxysteroid dehydrogenase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 11p11.2 deletion syndrome 11p15.4 microduplication syndrome 11q terminal deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21 microdeletion syndrome 12q24.31 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q22 deletion syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 17q24.2 microdeletion syndrome 18p deletion syndrome 18q deletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1p36.33 duplication syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11.2 deletion syndrome (Velocardiofacial syndrome) 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2A syndrome 2p13.2 microdeletion syndrome 2p14p15 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 contiguous gene deletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2p25.3 microduplication syndrome 2q13 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q31.1 microdeletion syndrome 2q32q33 deletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-M syndrome 3-mercaptopyruvate sulfurtransferase deficiency 3-methylglutaconic aciduria 3-methylglutaconic aciduria epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic aciduria neonatal cataract-neurologic involvement congenital neutropenia syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3MC syndrome 3MG-CoA hydratase deficiency 3p deletion syndrome 3q subtelomere deletion syndrome 3q13 microdeletion syndrome 3q23 microdeletion syndrome 3q26 microduplication syndrome 3q27.1 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microduplication syndrome 3qter deletion syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 45,X/46,XX mosaicism 45,X/46,XX syndrome 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgen excess 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone resistance 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to maternal exposure to endocrine disruptors 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial luteinizing hormone resistance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development due to testosterone synthesis defect 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Abortion - Spontaneous Abruptio Placentae Achlorhydria Acrocephalopolysyndactyly type III (Bixler-Christian-Gorlin syndrome) Acromegaly Actinic lichen planus Acute Myeloid Leukaemia Addison's Disease Adult Still's Disease AIDS Allergic Bronchopulmonary Disease Allergic Reactions Allergic Rhinitis Alpha 1-Antitrypsin Deficiency Alpha Thalassaemia Carrier Alpha Thalassaemia Trait Amyloidosis Anaemia Anaemia - Aplastic Anaphylactoid Reaction - Severe Anencephaly Ankylosing Spondylitis Antley-Bixler Syndrome Aortic Aneurysm Aortic Coarctation Aortic Dilatation Aortic Dissection Aortic Regurgitation Aortic Rupture Aortic Stenosis Aortic Valve Insufficiency Aphasia - Progressive Nonfluent Appendicitis Arteriosclerosis Arthritis Asthma Atelactasis Atrial Septal Defect Atrophic Gastritis Attention Deficit Hyperactivity Disorder (ADHD) Autism B-ALL with t(9;22)(q34.1;q11.2) B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and T-cell anergy disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell lymphoma B-cell NHL B-cell non-Hodgkin lymphoma B-cell prolymphocytic leukemia B-K mole syndrome B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); KMT2A rearranged B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome B4GALT1-CDG B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BACH2-related immunodeficiencyautoimmunity syndrome Bachmann-Bupp syndrome Bacteriaemia Bacterial myositis Bacterial toxic shock syndrome Bader syndrome BAG3-related myofibrillar myopathy Bahemuka-Brown syndrome Bailey-Bloch congenital myopathy Bainbridge-Ropers syndrome Baird syndrome Baker-Gordon syndrome Bakrania-Ragge syndrome Balanced complete atrioventricular canal Balanced partial atrioventricular canal Balantidiasis Balint syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth-Lazarus syndrome Band-like calcification with simplified gyration and polymicrogyria Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Baralle-Macken syndrome Barber-Say syndrome Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome type 2 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome type 5 Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Bartsocas-Papas syndrome Bartter Syndrome Bartter syndrome type 1 Bartter syndrome type 2 Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome with sensorineural hearing loss Basal Cell Carcinoma Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan-Baird syndrome Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Smirin-Yosef syndrome BASIL syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Baughman syndrome Bazex-Dupré-Christol syndrome BCAS3-related neurodevelopmental disorder BCL11B-related neurodevelopmental disorder BCR-ABL1-like B-ALL Beaulieu-Boycott-Innes syndrome Beck-Fahrner syndrome Becker dystrophinopathy Beckwith - Wiedemann Syndrome Bedouin spastic ataxia syndrome Behavioral variant frontotemporal dementia Behcets Syndrome Bell's Palsy Bellini carcinoma Bellini duct carcinoma Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonus epilepsy Benign atrophic papulosis Benign cephalic histiocytosis Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus Benign congenital sixth cranial nerve palsy Benign familial chorea Benign familial infantile epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign hyperferritinemia Benign intracranial hypertension Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign nocturnal alternating hemiplegia of childhood Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 (BRIC2) Bennion-Patterson syndrome Benson syndrome Bent bone dysplasia BENTA disease Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Bernard-Soulier syndrome Berti lymphoma Berylliosis Best macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycan-related limb-girdle muscular dystrophy Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Beta2-microglobulinic amyloidosis Bethlem muscular dystrophy Beukes familial hip dysplasia BH4-responsive phenylketonuria BH4-unresponsive phenylketonuria BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bicervical bicornuate uterus Bickers-Adams syndrome Bickerstaff brainstem encephalitis Biemond syndrome Bietti crystalline dystrophy Bifid femur-monodactylous ectrodactyly syndrome Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria Bilateral striopallidodentate calcinosis Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Biliary Cirrhosis Biliary cystadenocarcinoma Biliary hamartoma Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-induced neurological dysfunction Binder syndrome Biochemical variant galactosemia Biotin-responsive basal ganglia disease Biparietal Alzheimer disease Bipartite talus Bipolar Disorder Birdshot chorioretinopathy Birk-Barel syndrome Bitemporal aplasia cutis congenita Björnstad syndrome Bladder Carcinoma - Squamous Cell Bladder pain syndrome Blake pouch cyst Blakemore-Durmaz-Vasileiou syndrome Blastic plasmacytoid dendritic cell neoplasm Blau syndrome Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to CalDAG-GEFI deficiency Bleeding disorder due to P2Y12 defect Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosis epicanthus inversus syndrome plus (BPES plus) Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-telecanthus-microstomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Blood Vessel Rupture Blount disease Blue colour blindness Blue cone monochromacy Blue diaper syndrome Blue rubber bleb nevus Bockenheimer syndrome Body cavity-based lymphoma Body integrity dysphoria Body integrity identity disorder Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body stalk anomaly Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia-medullary fibrosarcoma syndrome Bone filaminopathy Bone fragility-contractures-arterial rupture-hearing loss syndrome Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Bone marrow failure-diabetes mellitus syndrome Bone necrosis Bone necrosis of genetic origin Bone sarcoma Bonneau syndrome Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borderline vascular neoplasm Borderline vascular tumor Borna virus encephalitis Bornholm eye disease Borrmann gastric cancer type 4 Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Boucher-Neuhäuser syndrome Bowel Obstruction Bowel Rupture Bowen-Conradi syndrome Boyadjiev-Jabs syndrome BPES type 1 BPES type 2 BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Brachial plexus neuritis Brachmann-de Lange syndrome Brachmann-de Lange syndrome type 1 Brachmann-de Lange syndrome type 2 Brachmann-de Lange syndrome type 3 Brachmann-de Lange syndrome type 4 Brachmann-de Lange syndrome type 5 Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B1 Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly, Farabee type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia intellectual disability-heart defects syndrome Brachydactyly-nystagmus cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Bradykinin-induced angioedema Bradyopsia Brailsford disease Brain abnormalities neurodegeneration-dysosteosclerosis disease Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain Abscess Brain Agenesis Brain arteriovenous malformation, nidus type Brain calcification, Rajab type Brain cortical dysplasia Brain dopamine-serotonin vesicular transport disease Brain inflammatory disease Brain malformation due to abnormal neuronal migration Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain Stem Syndrome Brain-lung-thyroid syndrome Branch pulmonary artery stenosis Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial arch or oral-acral syndrome Branchial arch syndrome Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiogenic hearing loss syndrome Branchiootic syndrome Branchiootorenal spectrum disorder Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever Brazilian pemphigus BRE syndrome Breast implant-associated ALCL Breast implant-associated anaplastic large cell lymphoma BRESEK syndrome Bresheck syndrome BRIC BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle cornea syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Brock s Syndrome Brodie abscess Brodie myopathy Brody myopathy Bronchial malformation Bronchial NET Bronchial neuroendocrine tumor Bronchial Obstruction Bronchiectasis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia syndrome Bronchiolitis obliterans syndrome Bronchitis Bronchoesophageal Fistula Bronchogenic carcinoma Bronchopneumonia Bronchopulmonary sequestration Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Sequard's Syndrome BRPF1-related neurodevelopmental disorder Brucella melitensis infection Brucella suis infection Bruck syndrome Brugada Syndrome Brugada syndrome type 1 Brugada syndrome type 2 Brugada syndrome type 3 Brunner syndrome Brunner syndrome type 1 Brunner syndrome type 2 Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Bruton agammaglobulinemia BSEP deficiency Buckley syndrome Budd-Chiari Syndrome Budd-Chiari-like syndrome Buerger-like disease Bulbar Paralysis Bulbospinal muscular atrophy Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous dermolysis of the newborn Bullous diffuse cutaneous mastocytosis Bullous impetigo Bullous lichen planus Bullous pyoderma gangrenosum Bullous systemic lupus erythematosus Buphthalmia Buphthalmos Buphthalmus Burkholderia mallei infection Burkholderia pseudomallei infection Burkitt s Lymphoma Burkitt-like lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff-like syndrome Butterfly vertebrae syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome BWS due to imprinting defect of 11p15 BWS due to paternal uniparental disomy of chromosome 11 Byler disease Byler-like disease Böök syndrome Cancer - Oesophagus Caplan's Syndrome Carcinoma Cardiac Amyloidosis Cardiac Failure Cardiomyopathy Cardiovascular Disease Carnitine palmitoyltransferase I deficiency Carpal Tunnel Syndrome Central Core Disease Cerebral Atrophy Cerebral Haemorrhage Cerebral Infarction Cerebral Palsy Cerebral Vein Thrombosis Cerebritis Cerebrovascular Accident Cervical Lymphadenitis CHARGE Syndrome Cholecystitis Choledochal Cyst Cholestasis Chronic Hepatitis Chronic Myelomonocytic Leukaemia (CMML) Chronic traumatic encephalopathy (Boxer's dementia) Cirrhosis Cleft Lip Cleft Palate CNS - Demyelinating Lesions CNS Haemangioblastoma CNS Parenchymal Disease Coagulopathy Coeliac Disease Colitis Collagen-vascular Diseases Colon - Amoeboma Colon - Obstruction Colon - Perforation Colon - Stricture Colon - Toxic Dilatation Colon - Volvulus Colorectal Cancer Common Bile Duct Obstruction Congenital contractural arachnodactyly (Beals syndrome) Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome type 1, BSCL type 1) Congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome type 2, BSCL type 2) Congenital generalized lipodystrophy type 3 (Berardinelli-Seip syndrome type 3, BSCL type 3) Congenital generalized lipodystrophy type 4, BSCL type 4 Congenital Heart Defect Congenital lipoid adrenal hyperplasia due to STAR deficiency Congestive Cardiac Failure COPD Cor Pulmonale Cord Compression Crohn Disease Crouzon Syndrome CRST Syndrome Cushing's Syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cyclocephaly Cystic Fibrosis Cystic transformation of pancreatic acini D+ HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria Da Silva syndrome DA1 DA10 DA2B DA5D Dabska tumor Dacryocele Dacryocystocele DADA2 Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy - Walker Syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Daneman-Davy-Mancer syndrome Danon disease Dapsone hypersensitivity syndrome Dapsone-induced hemolytic anemia Darbepoetin alfa-induced pure red cell aplasia Darcy disease Darier-like disease Dark skin susceptibility to melanoma Darmstadt syndrome DARS2-related leukoencephalopathy Dasyprocta syndrome Datura poisoning Davis syndrome Dawson disease Day blindness Day blindness with myopia Day blindness, congenital stationary Day blindness, Oguchi type Day blindness, progressive Day blindness, stationary DBA DBS syndrome DCAF17-related syndrome DCHS1-related mitral valve prolapse syndrome DCLRE1C deficiency DCP2-related neurodevelopmental disorder De Barsy syndrome De Grouchy syndrome De Grouchy syndrome type 1 De Grouchy syndrome type 2 De Lange syndrome De Morsier syndrome De Quervain thyroiditis De Sanctis syndrome De Sanctis-Cacchione syndrome Deafness dystonia syndrome Deafness-encephalopathy-fatty liver syndrome Deafness-infertility syndrome Deafness-myopathy syndrome Deafness-nephropathy syndrome Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome Deafness-renal anomalies syndrome Deafness-renal-genital syndrome Deafness-retinitis pigmentosa syndrome Deafness-short stature-facial dysmorphism syndrome Deafness-skeletal anomalies syndrome Deafness-vision impairment syndrome Death cap mushroom poisoning DeBarsy syndrome Decubitus ulcers Dejerine-Roussy syndrome Dejerine-Sottas disease Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p21.3) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(10)(p11.21p12.31) Del(10)(p13p14) Del(10)(p15.3) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q22q23) Del(14)(q32) Del(15)(q11q13) Del(15)(q13.3) Del(15)(q24) Del(15)(q26) Del(16)(p11.2) Del(16)(p13.3) Del(16)(q22) Del(17)(p11.2) Del(17)(p12) Del(17)(p13.3) Del(17)(q12) Del(17)(q21.31) Del(18)(p11.2) Del(18)(q12.2) Del(18)(q21) Del(18)(q23) Del(19)(p13.3) Del(19)(q13.11) Del(2)(p11.2) Del(2)(p16.1) Del(2)(p21) Del(2)(p25) Del(2)(q13) Del(2)(q21q23) Del(2)(q31) Del(2)(q32) Del(2)(q33.1) Del(2)(q37) Del(20)(p12.3) Del(20)(q11.2) Del(20)(q13.11) Del(21)(q21) Del(21)(q22.11) Del(21)(q22.13) Del(21)(q22.2) Del(22)(q11.2) Del(22)(q13) Del(3)(p13) Del(3)(p14) Del(3)(p21.31) Del(3)(p25) Del(3)(q13.31) Del(3)(q21q22) Del(3)(q25) Del(3)(q29) Del(4)(p14) Del(4)(p16) Del(5)(q22) syndrome Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25.2q25.3) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)(q24.3) Del(8)q(13) Del(9)(p13) Del(9)(q21.3) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(X)(p21) Del(X)(p23) Del(X)(q21) Delayed encephalopathy due to carbon monoxide poisoning Delayed membranous cranial ossification Delayed sleep phase syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delleman-Oorthuys syndrome Delpire-McNeill syndrome Delta granule disease Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-aminolevulinic acid dehydratase deficiency porphyria Delta-storage pool disease Demyelinating Charcot-Marie-Tooth disease Demyelinating neuropathy-central dysmyelination-Waardenburg syndrome Demyelinating polyneuropathy with deafness and cranial nerve involvement Demyelinating sensorimotor neuropathy Demyelination with brain stem and spinal cord involvement and lactate elevation Dengue Haemorrhagic Fever - DHF Dengue hemorrhagic fever Dengue Shock Syndrome - DSS Dens invaginatus Dense deposit disease Dentatorubral-pallidoluysian atrophy Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta Denture stomatitis Denys-Drash syndrome Deoxyguanosine kinase deficiency Deoxyribose phosphate aldolase deficiency Depersonalization-derealization disorder Deprenyl-associated psychosis Depression with psychotic features Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(22)t(11;22) syndrome Der(8)t(8;12) Dercum disease Dermal hypoplasia focal Dermal sinus tract Dermatillomania Dermatitis granulomatous interstitial Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermatostomatitis, Stevens Johnson type Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermoid or epidermoid cyst of the central nervous system Dermolytic epidermolysis bullosa Dermoodontodysplasia Dermotrichic syndrome DES embryofetopathy DES syndrome Desanto-Shinawi syndrome Desbuquois dysplasia DESC syndrome Desert fever Desert rheumatism Desmin-related myopathy Desmoid tumor Desmoplastic infantile astrocytoma Desmoplastic melanoma Desmoplastic small round cell tumor Desmosterolosis Desquamative interstitial pneumonia Developmental and epileptic encephalopathy due to GRIN1 mutation Developmental and epileptic encephalopathy due to SCN1A mutation Developmental and epileptic encephalopathy due to STXBP1 mutation Developmental delay with hypotonia and facial dysmorphism Developmental delay with microcephaly and seizures Developmental dysplasia of the hip Developmental encephalopathy with epilepsy Developmental regression-intellectual disability syndrome Dextrocardia with situs inversus Dextroposition of the heart Dextrotransposition of the great arteries Diabetes insipidus Diabetes Insipidus Diabetes insipidus, central Diabetes insipidus, nephrogenic Diabetes Mellitus Diabetes mellitus due to insulin receptor deficiency Diabetes mellitus due to mitochondrial DNA mutation Diabetes mellitus due to pancreatic agenesis Diabetes mellitus, permanent neonatal Diabetic Ketoacidosis Dialysis-related amyloidosis Dialysis-related arthropathy Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic or abdominal wall malformation Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Dias-Logan syndrome Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diastrophic dysplasia variant Diastrophic dysplasia-limb shortening syndrome Diastrophic dysplasia-micrognathia syndrome Diastrophic dysplasia-vertebral anomalies syndrome Diastrophic-like dysplasia Diastrophic-like dysplasia with joint contractures Diastrophic-like dysplasia with vertebral anomalies Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Dicarboxylic aminoaciduria DICER1 tumor-predisposition syndrome Didelphys uterus DIDMOAD syndrome DIDOD Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Dietary iron overload disease Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Diets-Jongmans syndrome Difference of sex development Difference of sex development of gynecological interest Difference of sex development-intellectual disability syndrome Diffuse alveolar hemorrhage Diffuse capillary malformation with overgrowth Diffuse cutaneous mastocytosis Diffuse dermal angiomatosis Diffuse esophageal leiomyomatosis Diffuse gastric cancer, hereditary Diffuse idiopathic skeletal hyperostosis Diffuse infantile hepatic hemangioma Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the CNS Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse panbronchiolitis Diffuse pulmonary lymphangiomatosis Diffuse scleroderma Diffuse systemic sclerosis Diffuse Unilateral Subacute Neuroretinitis Diffuse vascular malformation syndrome Diffuse white matter abnormality with spasticity and dementia Diffuse white matter disease with axonal spheroids Diffuse-type tenosynovial giant cell tumor Digital clubbing Digital fibromatosis, infantile Digital ulcers in systemic sclerosis Dihydropteridine reductase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DILE DiMauro disease Dimethylglycine dehydrogenase deficiency Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphyllobothriasis Diplomyelia Diplophthalmia Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Discoid lupus erythematosus Discoid lupus erythematosus, familial Discoid meniscus Disconnection syndrome Discontinuous splenogonadal fusion Discrepant atrioventricular connections Diseminated superficial actinic porokeratosis Dishevelled hair syndrome Disinhibition-dementia-parkinsonism-amyotrophy complex Dislocation of the patella, congenital Disorders of biopterin metabolism Disorders of cobalamin metabolism Disorders of creatine metabolism Disorders of fructose metabolism Disorders of galactose metabolism Disorders of glycine metabolism Disorders of lysine metabolism Disorders of mitochondrial DNA maintenance Disorders of proline metabolism Disorders of serine metabolism Disorders of sulfur metabolism Disorders of tetrahydrobiopterin metabolism Disorders of tyrosine metabolism Disorders of valine metabolism Disseminated actinic granuloma Disseminated adenovirus infection Disseminated Intravascular Coagulation Disseminated peritoneal leiomyomatosis Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal anoctaminopathy Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 10p syndrome Distal deletion 10q syndrome Distal deletion 12p syndrome Distal deletion 12q syndrome Distal deletion 13q syndrome Distal deletion 14q syndrome Distal deletion 15q syndrome Distal deletion 17q syndrome Distal deletion 19p syndrome Distal deletion 1q syndrome Distal deletion 3p syndrome Distal deletion 4p Distal deletion 4q syndrome Distal deletion 6p syndrome Distal deletion 6p25 Distal deletion 7p syndrome Distal deletion 7q36 Distal deletion 9p syndrome Distal dup(22)(q11.2) Distal dup(7)(q11.23) Distal dup(X)q(28) Distal duplication 10q syndrome Distal duplication 11q syndrome Distal duplication 13q syndrome Distal duplication 14q syndrome Distal duplication 15q syndrome Distal duplication 16p Distal duplication 16q syndrome Distal duplication 17q syndrome Distal duplication 18q syndrome Distal duplication 19q syndrome Distal duplication 1p36 syndrome Distal duplication 20q syndrome Distal duplication 22q syndrome Distal duplication 2p syndrome Distal duplication 2q syndrome Distal duplication 3p syndrome Distal duplication 4p syndrome Distal duplication 4q syndrome Distal duplication 5q syndrome Distal duplication 6p syndrome Distal duplication 6q syndrome Distal duplication 7p syndrome Distal duplication 8p syndrome Distal duplication 8q syndrome Distal duplication 9p syndrome Distal duplication 9q syndrome Distal hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 Distal hereditary motor neuropathy type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal Intestinal Obstruction Syndrome Distal myopathy Distal myopathy type 1 Distal myopathy type 2 Distal myopathy type 3 Distal myopathy type 4 Distal myopathy type 5 Distal trisomy 22q11.2 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy Xq28 Distal-HMN type 6 Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK phocomelia syndrome DK1-CDG DKC DLBCL of the CNS DLG3-related intellectual disability DLX5-related split hand-foot malformation DM1 DM2 DMDD DMGDH deficiency DMPK-related myotonic dystrophy DNA repair disorder with growth deficiency (Bloom syndrome) DNM2-related centronuclear myopathy DNMT3A overgrowth syndrome DNMT3A-related intellectual disability syndrome DOCK2 deficiency DOCK8 deficiency Dolichocephaly Dolichol kinase deficiency Dolichyl-phosphate-mannose synthase 1 deficiency Dolichyl-phosphate-mannose synthase 2 deficiency Dolichyl-phosphate-mannose synthase 3 deficiency Dolichyl-phosphate-mannose synthase deficiency Dolichyl-phosphate-mannose synthase deficiency-dystroglycanopathy syndrome Dolly syndrome Dominant beta-thalassemia Dominant drusen Dominant dystrophic epidermolysis bullosa Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant optic atrophy Dominant optic atrophy plus syndrome Dominant optic atrophy with cataract Dominant optic atrophy with deafness Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome DONSON-related microcephaly-short stature-limb abnormalities spectrum DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dopamine transporter deficiency syndrome Dorfman-Chanarin syndrome Dorsal spinal cord lipoma Double A syndrome Double discordance Double inlet atrioventricular connection Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Down syndrome due to mosaic trisomy 21 Down syndrome due to translocation Down syndrome with acute lymphoblastic leukemia Down syndrome with acute myeloid leukemia Down syndrome with transient myeloproliferative disorder Dravet syndrome Dreifuss muscular dystrophy Drepanocytosis DRESS syndrome Drinking water-associated arsenic toxicity Drooling-choreoathetosis syndrome Drop attacks DRPLA Drug reaction with eosinophilia and systemic symptoms Drug-induced agranulocytosis Drug-induced aseptic meningitis Drug-induced autoimmune hemolytic anemia Drug-induced autoimmune thrombocytopenia Drug-induced cholestasis Drug-induced eosinophilia Drug-induced hypersensitivity syndrome Drug-induced immune thrombocytopenia Drug-induced interstitial lung disease Drug-induced lupus erythematosus Drug-induced myopathy Drug-induced pancreatitis Drug-induced parkinsonism Drug-induced photosensitivity Drug-induced pneumonitis Drug-induced pruritus Drug-induced QT prolongation Drug-induced thrombocytopenia Drug-induced vasculitis Dry eye syndrome, severe congenital Dry scalp syndrome Dubowitz syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy with cardiomyopathy Duchenne muscular dystrophy, female carrier Ductal plate malformation Duodenal duplication Duodenal obstruction Dysostosis Multiplex Eales disease Ear Infections Ear-patella-short stature syndrome Early infantile developmental and epileptic encephalopathy Early onset familial encephalopathy with neuroserpin inclusion bodies Early onset non-syndromic cataract Early onset progressive leukoencephalopathy central nervous system calcification hearing loss visual impairment syndrome Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Early-onset autosomal recessive TTN-related distal myopathy Early-onset benign childhood occipital epilepsy Early-onset calcifying leukoencephalopathy skeletal dysplasia Early-onset cerebellar ataxia with retained tendon reflexes Early-onset citrullinemia type 1 Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy intellectual disability brain anomalies syndrome Early-onset familial hyperreninemic hypoaldosteronism Early-onset generalized torsion dystonia Early-onset idiopathic chronic pancreatitis Early-onset Lafora body disease Early-onset obesity-hyperphagia severe developmental delay syndrome Early-onset Parkinson disease Early-onset parkinsonism intellectual disability syndrome Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindness-ataxia spasticity syndrome Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to AP3D1 deficiency Early-onset severe retinal dystrophy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome East Texas bleeding disorder Eastman-Bixler syndrome Eating reflex epilepsy EBV-associated gastric carcinoma EBV-associated lymphoproliferative disorder EBV-associated mesenchymal tumor EBV-induced lymphoproliferative disease due to CARMIL2 deficiency EBV-induced lymphoproliferative disease due to CD70 deficiency EBV-induced lymphoproliferative disease due to CTPS1 deficiency EBV-induced lymphoproliferative disease due to PRKCD deficiency EBV-induced lymphoproliferative disease due to RASGRP1 deficiency EBV-positive diffuse large B-cell lymphoma Eccrine angiomatous hamartoma Ectasia of the left atrial appendage Ectasia of the right atrial appendage Ectasic coloboma Ectodermal dysplasia Ectodermal dysplasia Berlin type Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth Ectodermal dysplasia with natal teeth Turnpenny type Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic neurohypophysis Eczema Encephalitis - Diffuse Encephalitis - Focal Encephalomyelitis Encephalopathy Endocarditis Endometrial Neuroendocrine Tumour Endophthalmitis Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy Enteropathy-associated T-cell lymphoma Enthesitis-related juvenile idiopathic arthritis Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic cystitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granulomatosis with polyangiitis Ependymoma EPHB4-related capillary malformation-arteriovenous malformation EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis Epiblepharon Epibronchial right pulmonary vein syndrome Epicardial coronary artery fibromuscular dysplasia Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermal nevus syndrome (Becker nevus syndrome) Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with nephropathy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic palmoplantar keratoderma Epididymo-Orchitis Epignathus Epilepsia partialis continua Epilepsy Epilepsy of infancy with migrating focal seizures Epilepsy with auditory features Epilepsy with eyelid myoclonia Epilepsy with generalized tonicclonic seizures alone Epilepsy with myoclonic absences Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with spike-and-wave activation in sleep Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelial tumor of anal canal Epithelial tumor of the appendix Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature Equinia Erdheim-Chester disease ERF-related syndromic craniosynostosis Erosive pustular dermatosis of the scalp Erysipelas Erythema elevatum diutinum Erythema multiforme major Erythema palmare hereditarium Erythematous Candida Erythrocyte GALE deficiency Erythrocyte lactate transporter defect Erythrodermic ichthyosis Erythrokeratoderma variabilis progressiva Erythrokeratoderma with ataxia Erythrokeratodermia-cardiomyopathy syndrome Erythroleukemia Escher-Hirt syndrome Escobar syndrome Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction Esophageal atresia with or without trachea-esophageal fistula Esophageal squamous cell carcinoma Essential mixed cryoglobulinemia Estrogen resistance syndrome Ethylene glycol poisoning Ethylmalonic encephalopathy Euhidrotic ectodermal dysplasia Euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dystransthyretinemic hyperthyroxinemia Euthyroid Graves orbitopathy EVEN-plus syndrome Excess breast volume or number Excretory apparatus of the lacrimal system anomaly Exencephaly Exercise intolerance with lactic acidosis Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermia-brachydactyly type E syndrome Exposure-related interstitial lung disease Exstrophy-epispadias complex Extensive venous malformation External auditory canal aplasia/hypoplasia Extra-adrenal aldosterone-producing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germ cell tumor Extragonadal germinoma Extragonadal non-dysgerminomatous germ cell tumor Extragonadal teratoma Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraskeletal myxoid chondrosarcoma Extrathoracic heart Extraventricular neurocytoma Extremity fibromuscular dysplasia Extrinsic Allergic Alveolitis Eye-brow duplication-syndactyly syndrome EZH2-related overgrowth syndrome F syndrome F12-related hereditary angioedema with normal C1 inhibitor FACES syndrome Facial cleft Facial dermoid cyst Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism hypertrichosis-epilepsy-intellectual disability-developmental delay-gingival overgrowth syndrome Facial dysmorphism macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-anorexia cachexia-eye and skin anomalies syndrome Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy Facial dysmorphism-global developmental delay-hypotoniapolymicrogyria syndrome Facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities spontaneous filtering blebs syndrome Facial dysmorphism-ocular anomalies-osteopenia-intellectual disabilitydental anomalies syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial granuloma of Lever Facial hemispasm Facial infiltrating lipomatosis Facial nerve palsy due to varicella zoster virus Facial neuralgia Facial onset sensory and motor neuronopathy Facio-audio-symphalangism syndrome Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary dissociation Facio-pharyngo-glosso-masticatory diplegia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Factor IX deficiency, Leyden type Factor V Amsterdam bleeding disorder Factor V and Factor VIII combined deficiency Factor V Atlanta bleeding disorder Factor V East Texas bleeding disorder Factor V Quebec Factor V short isoforms-related bleeding disorder FADD-related immunodeficiency FAH deficiency FAHN Fallot complex-intellectual disability-growth delay syndrome Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adrenal hypoplasia Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type IV Familial Amyloid Syndromes Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial APOA5 deficiency Familial apoC-II deficiency Familial apolipoprotein A-V deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial articular hypermobility syndrome Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial breast cancer Familial breast carcinoma Familial calcium pyrophosphate deposition disease Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CD8 deficiency Familial cerebral amyloid angiopathy Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial chilblain lupus Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold autoinflammatory syndrome type 4 Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer type X Familial congenital contralateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial continuous skin peeling syndrome Familial cortical myoclonic tremor and epilepsy Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cylindromatosis Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dyslipidemia type 3 Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial gigantiform cementoma Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type 4 Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinsulinemic hypoglycemia Familial hyperinsulinism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperphosphatemic tumoral calcinosis Familial hyperprolactinemia Familial hyperthyroidism due to TSH receptor mutation Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial idiopathic steroidresistant nephrotic syndrome Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation Familial intestinal polyposis Familial intracranial saccular aneurysm Familial intrahepatic cholestasis Familial intraosseous vascular malformation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form Familial isolated arrhythmogenic ventricular dysplasia, right-dominant form Familial isolated café-au-lait macules Familial isolated café-au-lait spots Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated retinal arteriolar tortuosity Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial macular edema Familial median cleft of the upper and lower lips Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy Familial mitral valve prolapse Familial monosomy 7 syndrome Familial multinodular goiter Familial multiple cutaneous leiomyomas Familial multiple discoid fibromas Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichodiscomas Familial multiple trichoepithelioma Familial nasal acilia Familial non-immune hyperthyroidism Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial nonmedullary thyroid carcinoma Familial nonpolyposis colorectal cancer Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteonecrosis of femoral head Familial pancreatic cancer Familial papillary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial partial epilepsy Familial partial epilepsy with variable foci Familial partial lipodystrophy Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial pelvis-scapular dysplasia Familial peripheral male-limited precocious puberty Familial pheochromocytomaparaganglioma Familial platelet disorder with associated myeloid malignancy Familial platelet disorder with predisposition to acute myeloid leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial porencephaly Familial porphyria cutanea tarda Familial primary hyperparathyroidism Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma Familial prion disease Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive subcortical gliosis Familial prostate cancer Familial pseudohyperkalemia Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain syndrome Familial recurrent arthritis Familial recurrent Bell palsy Familial renal amyloidosis Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial renal hypouricemia Familial retinal arterial macroaneurysm Familial scaphocephaly syndrome Familial scaphocephaly-radioulnar synostosis syndrome Familial schizencephaly Familial spastic paraplegia Familial spontaneous pneumothorax Familial startle disease Familial syringomyelia Familial systemic lupus erythematosus Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and dissection Familial thrombocythemia Familial thrombocytosis Familial thyroglossal duct cyst Familial transthyretin-related amyloidosis Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial woolly hair syndrome Fanconi Syndrome Fanconi-Bickel syndrome FAR1 deficiency Fara-Chlupackova syndrome Fara-Chlupackova syndrome type 1 Fara-Chlupackova syndrome type 2 Farber disease Fasciolopsiasis Fast-channel congenital myasthenic syndrome Fast-flow vascular malformation FASTKD2-related infantile mitochondrial encephalomyopathy Fatal Familial Insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile hypertonic myofibrillar myopathy Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal pontocerebellar hypoplasiahypotonia-respiratory insufficiency syndrome Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation disorder with cardiomyopathy Fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 superactivity Faulk-Epstein-Jones syndrome Favism FBLN1-related developmental delay-central nervous system anomalysyndactyly syndrome FBPase deficiency Febrile infection-related epilepsy syndrome Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Felty's Syndrome Female adnexal tumor of probable Wolffian origin Female infertility due to implantation defect of genetic origin Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome Femur-fibula-ulna complex Femur-fibula-ulna syndrome Fenestrae parietales symmetricae Fenton-Wilkinson-Toselano syndrome Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acetylcholine receptor antibody-related disorder Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal Alcohol Syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal anticonvulsant syndrome Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal Death Fetal Distress in Labour Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal iodine syndrome Fetal lower urinary tract obstruction Fetal lung interstitial tumor Fetal methylmercury poisoning Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fetal valproate syndrome Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathy Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children Fibro-adipose vascular anomaly Fibroblastic rheumatism Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrolamellar hepatocellular carcinoma Fibrolipomatous filum terminale anomaly Fibroma-like epithelioid sarcoma Fibromuscular dysplasia Fibromuscular dysplasia of cervical and intracranial arteries Fibromuscular dysplasia of renal arteries Fibromuscular dysplasia of the arteries of the extremities Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing Alveolitis Fibrosing mediastinitis Fibrotic hypersensitivity pneumonitis Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Filamin A-related X-linked myxomatous valvular dysplasia Filamin C-related myofibrillar myopathy Filamin-related bone disorder Filariasis Filippi syndrome FILS syndrome FINCA syndrome Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hidradenoma Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed drug eruption Fixed subaortic stenosis FKBP14-related Ehlers-Danlos syndrome FKRP-related limb-girdle muscular dystrophy FKTN-related congenital muscular dystrophy Fleck corneal dystrophy Flegel disease FLNA-related valvular dystrophy FLNC-related distal myopathy Floating-Harbor syndrome Floppy Valve Syndrome Florid cemento-osseous dysplasia Flow limitation in the iliac artery Fluctuating myotonia Flynn-Aird syndrome Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal facial dermal dysplasia Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type 2 Focal facial dermal dysplasia type 3 Focal facial dermal dysplasia type 4 Focal intestinal perforation Focal myositis Focal nodular myositis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Focal segmental glomerulosclerosis (FSGS) Focal stiff-person syndrome Fogo selvagem Foix-Chavany-Marie syndrome Folate Deficiency Folate receptor alpha deficiency Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Folliculotropic mycosis fungoides Fontaine progeroid syndrome Fontan-associated liver disease Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome FOSL2-related neurodevelopmental disorder FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler urethral sphincter dysfunction syndrome Fowler vasculopathy Fowler-Christmas-Chapple syndrome FOXG1 syndrome FOXG1 syndrome due to 14q12 microdeletion FOXG1 syndrome due to intragenic alteration FOXG1-related epileptic-dyskinetic encephalopathy FOXP1 syndrome FOXP2-associated speech and language disorder Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor-ataxia syndrome Fragile X-associated tremor/ataxia syndrome Fragoso-Cantú syndrome Franceschetti Oculodigital Sign Franceschetti-Klein syndrome François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Frank-Ter Haar syndrome Fraser syndrome Frasier syndrome FRAXE intellectual disability Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Burian syndrome Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freiberg disease Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frey syndrome Fried syndrome Fried tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia type 1 Frontonasal dysplasia type 2 Frontonasal dysplasia type 3 Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopeciagenital anomalies syndrome Frontonasal dysplasia-bifid noseupper limb anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Fructose-1,6-diphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly syndrome Fryns microphthalmia syndrome Fryns-Hofkens-Fabry syndrome Fucosidosis type I and II Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuhara syndrome Fukutin-related limb-girdle muscular dystrophy Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarylacetoacetase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblE Functioning gonadotropic adenoma Functioning pancreatic neuroendocrine tumor Functioning pituitary adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal keratitis Fungal myositis Furukawa-Takagi-Nakao syndrome Furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Dermatobia hominis Fusariosis Fused mandibular incisors Fusion of metacarpals 4 and 5 Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI Gerstmann-Sträussler-Scheinker disease GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gonadal Dysgenesis Gout Guillain Barre Syndrome Gyrate Atrophy H syndrome H syndrome-like disorder H-ABC H-type tracheoesophageal fistula H1-4-related neurodevelopmental disorder HA20-related monogenic Behcet-like disease Haberland syndrome Haddad syndrome Hadziselimovic syndrome Haemochromatosis Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Haemoglobin E disease Haemoglobin H Disease Haemoglobin H-Constant Spring disease Haemoglobin Lepore syndrome Haemoglobin M-Hyde Park disease Haemoglobin S/D Punjab disease Haemoglobin S/O-Arab disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Haemorrhagic septicemia due to Capnocytophaga canimorsus HAFOUS HAFOUS due to USP7 mutation Hailey-Hailey disease Haim-Munk syndrome Hair-nail ectodermal dysplasia Hairy Cell Leukaemia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome HaNDL syndrome Hanhart syndrome Hanot syndrome Hantavirosis Hantavirus pulmonary syndrome Hao-Fountain syndrome HAPE Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome Hard flaccid syndrome Hardikar syndrome Harding disease Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disorder Hartnup syndrome with pellagra-like rash Hashimoto encephalopathy Hashimoto thyroiditis with encephalopathy Hashimoto-Pritzker syndrome Haspeslagh syndrome Haspeslagh-Fryns-Muelenaere syndrome HbS-Lepore disease HbS-O Arab disease HbS-other specified hemoglobin variant disease HbSD disease HbSE disease HBSL HCD HCDD HCFC1-related disorder HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HD-HA syndrome HDFN HDL1 HDL2 HDL3 HDLS HDR syndrome HDV Head and neck neuroendocrine carcinoma Head and neck paraganglioma Head and neck squamous cell carcinoma, rare hereditary form Headache syndrome due to glycine receptor autoimmunity Healing palmoplantar keratoderma Hearing impairment-cataract-retinal degeneration syndrome Hearing impairment-early graying syndrome Hearing impairment-intellectual disability syndrome Hearing impairment-macular degeneration syndrome Hearing impairment-retinitis pigmentosa syndrome Hearing impairment-thrombocytopenia syndrome Hearing loss with labyrinthine aplasia, microtia, and microdontia Hearing loss-amelogenesis imperfecta syndrome Hearing loss-cardiomyopathy syndrome Hearing loss-cataract syndrome Hearing loss-craniofacial syndrome Hearing loss-epilepsy syndrome Hearing loss-familial salivary gland insensitivity syndrome Hearing loss-hyperopia-clinodactyly syndrome Hearing loss-intellectual disability syndrome, Mariner type Hearing loss-myopia-intellectual disability syndrome Hearing loss-nephritis syndrome Hearing loss-onychodystrophy syndrome Hearing loss-renal disease syndrome Hearing loss-short stature syndrome Hearing loss-vertebral anomalies syndrome Hecht syndrome Hecht-Beals syndrome Heerfordt syndrome Heimler syndrome Heinz body anemia Helicobacter pylori infection Helicobacter pylori-associated gastric carcinoma Heller myopathy HELLP syndrome Helmholtz syndrome Helminthiasis, rare forms Hemangioblastoma Hemangioma, capillary Hemangioma, cavernous Hemangioma, infantile Hemangiomatosis, diffuse neonatal Hemangiopericytoma Hemeralopia-congenital cataract syndrome Hemeralopia-myopia-color blindness-deafness syndrome Hemeralopia-recurrent respiratory infections syndrome Hemiballismus Hemicrania continua Hemifacial microsomia Hemifacial spasm Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly Hemimelic epiphyseal dysplasia Hemiparkinsonism-hemiatrophy syndrome Hemiplegia migraine, familial Hemispheric cerebral agenesis-hypoplasia syndrome Hemochromatosis (Bronze diabetes) Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin M disease Hemoglobin S-beta-thalassemia syndrome Hemoglobin SC disease Hemoglobinopathy due to unstable hemoglobin Hemoglobinopathy Toms River type Hemolytic uremic syndrome with complement factor H deficiency Hemolytic uremic syndrome with complement factor I deficiency Hemolytic uremic syndrome with membrane cofactor protein deficiency Hemolytic uremic syndrome, atypical Hemolytic uremic syndrome, typical Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, secondary Hemophilia C Hemorrhagic cystitis Hemorrhagic disease of the newborn Hemorrhagic shock and encephalopathy syndrome Hemorrhagic stroke due to cerebral amyloid angiopathy Hemorrhagic telangiectasia, cerebral form Hemorrhagic telangiectasia, cutaneous form Hemorrhagic telangiectasia, hepatic form Hemorrhagic telangiectasia, pulmonary form Henoch-Schonlein Purpura Henoch-Schonlein purpura nephritis HEPACAM-related megalencephalic leukoencephalopathy Hepatic adenoma, familial Hepatic epithelioid hemangioendothelioma Hepatic Failure Hepatic glycogen storage disease due to glycogen synthase deficiency Hepatic hemangioma Hepatic lipase deficiency Hepatic mesenchymal hamartoma Hepatic steatosis due to lipodystrophy Hepatic Vein Thrombosis Hepatic veno-occlusive disease with immunodeficiency Hepaticorectal fistula Hepatitis Hepatitis B virus-associated polyarteritis nodosa Hepatitis C virus-associated mixed cryoglobulinemia Hepatitis delta Hepatocele Hepatocellular Carcinoma Hepatocerebral form of mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Hepatocutaneous syndrome Hepatolenticular degeneration Hepatopulmonary syndrome Hepatorenal Failure Hephaestin-related iron transport disease Hereditary acral reticulate pigmentary disorder Hereditary acrokeratotic poikiloderma Hereditary amyloidosis, Finnish type Hereditary amyloidosis, transthyretin-related Hereditary congenital facial paresis Hereditary diffuse gastric cancer Hereditary fibrosing poikiloderma with tendon contractures Hereditary folate malabsorption Hereditary gingival fibromatosis Hereditary hyperekplexia Hereditary hyperferritinemia-cataract syndrome Hereditary inclusion body myopathy Hereditary isolated aplastic anemia Hereditary isolated MTC Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis and renal cell cancer Hereditary Lev-Lenègre disease Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy, Okinawa type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary nephrotic syndrome Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neurogenic diabetes insipidus Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary nonpolyposis colorectal cancer Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary optic neuropathy Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary papillary renal cell carcinoma Hereditary PCCD Hereditary periodic fever syndrome Hereditary periodic fever syndromes Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pituitary hyperplasia Hereditary poikiloderma Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary pseudocholinesterase deficiency Hereditary pseudohaemophilia Hereditary pulmonary alveolar proteinosis Hereditary pulmonary arterial hypertension Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to DNMT1 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with dementia and hearing loss Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary SI-NET Hereditary sick sinus syndrome Hereditary sodium channelopathy-related small fiber neuropathy Hereditary steroid-resistant nephrotic syndrome Hereditary stomatocytic disease Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelodysplasia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defects Hereditary transthyretin amyloid polyneuropathy Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary xerocytosis Heredopathia atactica polyneuritiformis Herlyn-Werner-Wunderlich syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes labialis Herpes simplex virus encephalitis Herpes simplex virus stromal keratitis Herpetiform pemphigus Hers disease Herva disease Heterozygous microdeletion 17p11.2p12 HEXA disorder, adult form HEXA disorder, infantile form HEXA disorder, juvenile form Hexosaminidase activator deficiency Heyn-Sproul-Jackson syndrome High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/or BCL2 and/or BCL6 rearrangements High myopia-sensorineural deafness syndrome Hilar cholangiocarcinoma Hippocampal memory defect leukoencephalopathy Hippocampal sclerosis-related mesial temporal lobe epilepsy Hirayama disease Hirschsprung disease and intellectual disability due to MED13L deficiency Hirschsprung disease and intellectual disability due to ZEB2 deficiency Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome His bundle tachycardia Histidinuria-renal tubular defect syndrome Histiocytic and dendritic cell tumor Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histiocytosis X HITT HIV-associated cancer HJMD HLHS HMC syndrome HMG-CoA lyase deficiency HMG-CoA synthase deficiency HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF1B-related nephropathy HNRNPA1-related adult-onset distal myopathy HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH2-related neurodevelopmental disorder HNRNPK-related neurodevelopmental disorder HNRNPR-related neurodevelopmental disorder HNRPH1-related neurodevelopmental disorder HO-1 deficiency Hobnail hemangioma HOD Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome Hoffmann syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Collins syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holohemispheric giant cerebral arteriovenous malformation Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocystinuria Homocystinuria due to CBS deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous 2p21 microdeletion syndrome Homozygous alpha0-thalassemia Homozygous beta-thalassemia Homozygous delta-beta thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia due to APOB deficiency Homozygous familial hypercholesterolemia due to LDLR deficiency Homozygous familial hypercholesterolemia due to PCSK9 deficiency Homozygous hemoglobin C disease Homozygous hemoglobin D disease Homozygous hemoglobin E disease Homozygous hemoglobin Lepore syndrome Homozygous hemoglobin O Arab disease Homozygous hemoglobin O-Arab disease Homozygous hemoglobin S disease Homozygous hypobetalipoproteinemia Homozygous protein C deficiency Homozygous protein S deficiency Homozygous variegate porphyria Honey-droplet corneal dystrophy Honeycomb corneal dystrophy HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horner Syndrome Hornstein-Knickenberg syndrome Hot water reflex epilepsy Houge-Janssens syndrome-1 Houlston-Ironton-Temple syndrome Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPDL-related Leigh-like encephalopathy HPRT complete deficiency HPRT deficiency HPRT partial deficiency HPS10 HPS2 HRD syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related cerebral small vessel disease Hughes-Stovin syndrome Human herpesvirus 8-related disorder Human herpesvirus-8-associated multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Human infection by orthopoxvirus Human prion disease Humerus trochlea aplasia Hunter-Jurenka-Thompson syndrome Hunter-McAlpine syndrome Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington disease phenocopy due to C9ORF72 expansion Huntington disease phenocopy syndrome Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huppke-Brendel syndrome HUPRA syndrome Huriez syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome Hyaline body myopathy Hyaline fibromatosis syndrome Hyaline membrane disease Hyaline ring granuloma Hyalinosis cutis et mucosae Hyaluronidase 2 deficiency Hyaluronidase deficiency Hybrid acute leukemia Hybrid peripheral nerve sheath tumor Hydatid disease Hydatidiform mole Hydatidiform mole, biparental recurrent form Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydranencephaly with abnormal genitalia Hydrargyria Hydroa vacciniforme Hydroa vacciniforme-like lymphoproliferative disorder Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Hydrocephalus with hop gait, abducens palsy and psychomotor retardation Hydrocephalus with obesity, hypogonadism, and retinal dystrophy Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue sclera-nephropathy syndrome Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-tall stature-joint laxity-kyphoscoliosis syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vascular anomaly Hydrolethalus syndrome 2 Hydrometrocolpos-polydactyly syndrome Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops Fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystem failure syndrome Hydroxyacyl-CoA dehydrogenase trifunctional protein deficiency Hydroxykynureninuria Hydroxymethylglutaric aciduria Hydroxymethylglutaryl-CoA lyase deficiency Hydroxysteroid dehydrogenase deficiency, isolated Hygroma colli Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome, autosomal recessive Hyper-IgM syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome type 6 Hyper-IgM syndrome type 7 Hyperalaninemia Hyperaldosteronism Hyperammonemia Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperargininemia due to arginase deficiency Hyperbilirubinemia due to Crigler-Najjar syndrome type 2 Hyperbilirubinemia due to Gilbert syndrome Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcaemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholanemia, familial Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HyperCKemia with myalgia HyperCKemia, idiopathic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercontractile muscle stiffness syndrome Hyperdibasic aminoaciduria Hyperekplexia with apnea Hyperekplexia, hereditary major form Hyperekplexia, hereditary minor form Hyperekplexia-epilepsy syndrome Hypereosinophilic obliterative bronchiolitis Hypereosinophilic syndrome with idiopathic eosinophilia Hyperexplexia due to glycine receptor deficiency Hyperferritinemia with cataract Hyperglycerolemia Hyperglycinuria Hyperglycinuria due to iminoglycinuria syndrome Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-hearing loss-ataxia syndrome Hypergonadotropic hypogonadism-retinitis pigmentosa syndrome Hypergonadotropic ovarian dysgenesis Hyperimidodipeptiduria Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycaemia Hyperinsulinism due to ABCC8 deficiency Hyperinsulinism due to AKT2 deficiency Hyperinsulinism due to CACNA1D deficiency Hyperinsulinism due to exercise-induced monocarboxylate transporter 1 expression Hyperinsulinism due to FOXA2 deficiency Hyperinsulinism due to GCK deficiency Hyperinsulinism due to GLUD1 deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HK1 deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to KCNJ11 deficiency Hyperinsulinism due to mitochondrial glutamate carrier deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to phosphoglucomutase 1 deficiency Hyperinsulinism due to PMM2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to TRMT10A deficiency Hyperinsulinism due to UCP2 anomaly Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism-hyperammonemia due to GLUD1 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkeratosis congenita Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans of Flegel Hyperkeratosis palmoplantaris striata varians Hyperkeratosis-hyperpigmentation syndrome Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermobile Ehlers-Danlos syndrome Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpigmentation of the skin Hyperprolinemia type 1 Hyperprolinemia type 2 Hypersarcosinemia Hypersensitivity pneumonitis Hypersensitivity vasculitis Hypertelorism-hypospadias syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertension due to gain-of-function mutations in MR Hyperthyroidism Hypertrichosis cubiti Hypertrichosis lanuginosa acquisita Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichosis-pigmentary retinopathy-facial anomalies syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy due to mitochondrial disease Hypertrophic cardiomyopathy with kidney anomalies and limb defects syndrome Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of Dejerine-Sottas Hypertrophic olivary degeneration Hypertrophic or verrucous lupus erythematosus Hypertrophic osteoarthropathy, primary Hypertrophic pyloric stenosis Hypertrophic spinal pachymeningitis Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure syndrome Hyperviscosity Syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retardation syndrome Hypoadrenalism Hypoalphalipoproteinemia Hypobetalipoproteinemia due to ANGPTL3 deficiency Hypobetalipoproteinemia-chylomicron retention disease syndrome Hypocalcemic seizures-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypocalciuric hypercalcemia, familial Hypochondrogenesis Hypocomplementemic urticarial vasculitis Hypocretin/orexin deficiency syndrome Hypodiploid ALL Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Hypogammaglobulinaemia Hypogammaglobulinemia due to CD21 deficiency Hypogammaglobulinemia due to CD81 deficiency Hypogammaglobulinemia due to FNIP1 deficiency Hypogammaglobulinemia due to LAT deficiency Hypogammaglobulinemia due to MSN deficiency Hypogammaglobulinemia due to TWEAK deficiency Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Hypogenetic lung syndrome Hypoglossia-hypodactylia syndrome Hypoglossia/aglossia Hypogonadism Hypogonadism-alopecia-diabetes mellitus-mental retardation syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-developmental delay syndrome Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypointestinal pseudoobstruction with facial dysmorphism syndrome Hypokalemic alkalosis with sensorineural deafness Hypokalemic alkalosis-hypomagnesemia syndrome Hypokalemic nephropathy Hypokalemic nephropathy with sensorineural deafness Hypokalemic periodic paralysis type 1 Hypokalemic periodic paralysis type 2 Hypokalemic periodic paralysis with central core disease Hypokalemic periodic paralysis with paramyotonia Hypokalemic periodic paralysis, atypical form Hypokalemic rickets Hypokalemic sensory overstimulation Hypokalemic tubulopathy with hearing loss Hypokeratosis of palms and soles Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy Hypomyelinating leukodystrophy due to FAM126A deficiency Hypomyelinating leukodystrophy due to HIKESHI deficiency Hypomyelinating leukodystrophy due to NKX6-2 deficiency Hypomyelinating leukodystrophy due to TMEM106B deficiency Hypomyelinating leukodystrophy with brain stem and spinal cord involvement Hypomyelinating leukodystrophy with or without oligodontia Hypomyelinating leukodystrophy with slowly progressive ataxia Hypomyelinating leukodystrophy-ataxia-hypodontia syndrome Hypomyelinating leukodystrophy-hypogonadotropic hypogonadism syndrome Hypomyelinating neuropathy with congenital glaucoma Hypomyelinating neuropathy-congenital cataract syndrome Hypomyelination and congenital cataract Hypomyelination with atrophy of the basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with cataract and developmental delay Hypomyelination with congenital spondylocostal dysostosis Hypomyelination with delayed myelination and vanishing white matter Hypomyelination with early cerebellar atrophy Hypomyelination with hypodontia and hypogonadotropic hypogonadism Hypomyelination with optic nerve atrophy and basal ganglia abnormalities Hypomyelination with severe intellectual disability and basal ganglia abnormalities Hypomyelination with vanishing white matter Hypomyelination, hypogonadotropic hypogonadism and hypodontia Hypomyelination-congenital cataract syndrome Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Hypoparathyroidism Hypoparathyroidism due to CASR gain-of-function mutation Hypoparathyroidism due to GCM2 deficiency Hypoparathyroidism due to GNA11 gain-of-function mutation Hypoparathyroidism due to PTH deficiency Hypoparathyroidism due to SOX3 duplication Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal dysplasia syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism due to TBCE deficiency Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability syndrome Hypophosphatasia Hypophosphatasia due to ALPL deficiency Hypophosphatasia, adult form Hypophosphatasia, childhood form Hypophosphatasia, infantile form Hypophosphatasia, odontohypophosphatasia form Hypophosphatasia, perinatal benign form Hypophosphatasia, perinatal lethal form Hypophosphatasia-seizures-intellectual disability syndrome Hypophosphatemic nephrolithiasis-osteoporosis syndrome Hypophosphatemic rickets with hypercalciuria Hypophosphatemic rickets with hyperparathyroidism Hypophosphatemic rickets with nephrocalcinosis Hypophosphatemic rickets with renal phosphate wasting Hypophosphatemic rickets, autosomal dominant Hypophosphatemic rickets, autosomal recessive Hypophosphatemic rickets, X-linked dominant Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation, organomegaly, and delayed myelination syndrome Hypopigmentation-deafness syndrome Hypopigmentation-immunodeficiency with or without neurologic defects syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism Hypopituitarism due to GLI2 deficiency Hypopituitarism due to HESX1 deficiency Hypopituitarism due to LHX3 deficiency Hypopituitarism due to LHX4 deficiency Hypopituitarism due to LHX4 mutation with Chiari malformation Hypopituitarism due to OTX2 deficiency Hypopituitarism due to POU1F1 deficiency Hypopituitarism due to PROP1 deficiency Hypopituitarism due to transcription factor defect Hypopituitarism with ectopic posterior pituitary and pituitary stalk interruption syndrome Hypoplasia of corpus callosum with microcephaly and coloboma Hypoplasia of the cerebellum with progressive microcephaly Hypoplasia of the inferior cerebellar vermis with psychomotor retardation Hypoplasia of the mitral valve annulus Hypoplasia of the optic nerve with endocrine abnormalities Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta and nephrocalcinosis Hypoplastic anemia due to ribosomal protein deficiency Hypoplastic anemia with myelofibrosis Hypoplastic anemia-retardation syndrome Hypoplastic bone marrow failure syndrome Hypoplastic corpus callosum-retinopathy syndrome Hypoplastic distal phalanges-hypoplastic nails syndrome Hypoplastic left heart complex Hypoplastic left heart syndrome Hypoplastic left heart syndrome with aortic atresia Hypoplastic left heart syndrome with intestinal malrotation Hypoplastic left heart syndrome with mitral atresia Hypoplastic left heart syndrome with mitral stenosis Hypoplastic left heart syndrome with restrictive atrial septum Hypoplastic left heart syndrome with splenic anomalies Hypoplastic myelodysplastic syndrome Hypoplastic myelodysplastic syndrome with fibrosis Hypoplastic or aplastic tibia with polydactyly Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic right heart syndrome Hypoplastic right ventricle with pulmonary atresia Hypoplastic thumbs and halluces with ocular anomalies Hypoplastic thumbs with distal phalangeal aplasia and short stature Hypoplastic thumbs-onychodystrophy-deafness syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tricuspid valve syndrome Hypoplastic tricuspid valve with pulmonary atresia Hypoplastic uterus and vagina syndrome Hypoplastic uterus with distal vaginal atresia Hypoplastic vitreoretinopathy Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyporegenerative anemia with mitochondrial dysfunction Hyporeninemic hypertension Hyporeninemic hypoaldosteronism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias with facial anomalies and intellectual disability Hypospadias with growth retardation syndrome Hypospadias, severe form Hypospadias-dysphagia syndrome Hypospadias-intellectual disability, Goldblatt type Hypospadias-mental retardation syndrome Hypospadias-microcephaly syndrome Hypospadias-retardation syndrome, Opitz type Hypospadias-short stature-intellectual disability syndrome Hypotelorism-cleft palate-hypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartoma with gelastic seizures Hypothyroidism Hypothyroidism due to deficient transcription factors Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Hypotonia and developmental delay with atrophy of the leg muscles Hypotonia and ichthyosis due to dolichol phosphate mannose synthase deficiency Hypotonia and intellectual disability syndrome due to UNC80 deficiency Hypotonia and psychomotor retardation with characteristic facies Hypotonia ataxia developmental delay syndrome Hypotonia developmental delay and characteristic facies syndrome Hypotonia infantile with psychomotor retardation and characteristic facies 1 Hypotonia infantile with psychomotor retardation and characteristic facies 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia infantile with psychomotor retardation and characteristic facies 4 Hypotonia infantile with psychomotor retardation and characteristic facies 5 Hypotonia infantile with psychomotor retardation and characteristic facies 6 Hypotonia infantile with psychomotor retardation and characteristic facies 7 Hypotonia with lactic acidemia and hyperammonemia Hypotonia, infantile, with psychomotor retardation and characteristic facies 10 Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 Hypotonia, infantile, with psychomotor retardation and characteristic facies 8 Hypotonia, infantile, with psychomotor retardation and characteristic facies 9 Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome Hypotonia-cerebellar atrophy-developmental delay syndrome Hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome due to 2p21 deletion Hypotonia-cystinuria type 1 syndrome Hypotonia-deafness syndrome Hypotonia-encephalopathy-seizure syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypotonia-hypogonadism-hypogenitalism-obesity-developmental delay syndrome Hypotonia-intellectual disability-behavioral abnormalities syndrome Hypotonia-intellectual disability-obesity syndrome Hypotonia-motor delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome due to CTBP1 deficiency Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy due to CDH3 deficiency Hypotrichosis with keratosis pilaris and alopecia Hypotrichosis with recurrent skin blistering Hypotrichosis with recurrent skin vesicles Hypotrichosis with woolly hair Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-juvenile macular degeneration syndrome Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defects syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-retinal degeneration juvenile macular dystrophy syndrome Hypotrichosis-skin lesions-acral blistering syndrome Hypouricemia with exercise-induced acute kidney injury Hypouricemia, renal Hypouricemia, renal, type 1 Hypouricemia, renal, type 2 Hypouricemic nephrolithiasis Hypouricemic nephropathy Hypoventilation due to congenital leptin receptor deficiency Hypoventilation syndrome due to congenital leptin deficiency Hypovitaminosis D rickets due to vitamin D receptor defect Hypoxic-ischemic encephalopathy Hyrtl anomaly Hystrix-like ichthyosis with deafness syndrome Hystrix-like ichthyosis-deafness syndrome due to GJB2 deficiency I-TGCV ICF syndrome ICF syndrome type 2 ICF syndrome type 3 ICF syndrome type 4 Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome Ichthyosis vulgaris Ichthyosis-spastic quadriplegia-mental retardation syndrome Idiopathic CD4 lymphocytopenia Idiopathic environmental intolerance Idiopathic generalized epilepsy Idiopathic Hyperprolactinaemia Idiopathic infantile arterial calcification Idiopathic ketotic hypoglycemia Idiopathic lymphocytopenia Idiopathic non-cirrhotic portal hypertension Idiopathic pleuroparenchymal fibroelastosis Idiopathic portal hypertension Idiopathic scoliosis Idiopathic short stature Idiopathic systemic capillary leak syndrome Idiopathic Thrombocytopenic Purpura Idiopathic ventricular tachycardia IgA glomerulonephritis IgA nephropathy IgA pemphigus IgA vasculitis IgG4-related disease IGHD IGHD type 1A IGHD type 1B IGHD type 2 IGHD type 3 IgM deficiency, selective IgM glomerulonephritis IgM nephropathy IL10 deficiency IL10 receptor deficiency IL12 receptor beta 1 deficiency IL21 receptor deficiency IL2RG deficiency IL6 receptor deficiency IL7 receptor deficiency Imerslund-Gräsbeck syndrome Immune complex mediated vasculitis Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune hydrops fetalis Immune thrombocytopenia, chronic Immune-mediated acquired neuromuscular junction disease Immune-mediated cerebellar ataxia Immune-mediated necrotizing myopathy Immune-mediated scleritis Immune-mediated thrombotic thrombocytopenic purpura Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to ADA deficiency Immunodeficiency due to AK2 deficiency Immunodeficiency due to CARD11 deficiency Immunodeficiency due to CARD9 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to CD40 deficiency Immunodeficiency due to CD40 ligand deficiency Immunodeficiency due to DOCK8 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to GATA2 deficiency Immunodeficiency due to IKZF1 deficiency Immunodeficiency due to IL2RB deficiency Immunodeficiency due to IRF8 deficiency Immunodeficiency due to JAK3 deficiency Immunodeficiency due to LCK deficiency Immunodeficiency due to MALT1 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to NEMO deficiency Immunodeficiency due to ORAI1 deficiency Immunodeficiency due to PIK3CD mutation Immunodeficiency due to PIK3R1 mutation Immunodeficiency due to PNP deficiency Immunodeficiency due to RAG1 deficiency Immunodeficiency due to RAG2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to STAT1 gain-of-function mutation Immunodeficiency due to STAT3 mutation Immunodeficiency due to STIM1 deficiency Immunodeficiency due to TCF3 deficiency Immunodeficiency due to TYK2 deficiency Immunodeficiency due to ZAP70 deficiency Immunodeficiency with antibody deficiency and autoimmunity Immunodeficiency with combined B and T cell defect Immunodeficiency with DNA repair defect Immunodeficiency with factor I anomaly Immunodeficiency with hyper IgE and recurrent infections Immunodeficiency with hyper IgM due to AICDA deficiency Immunodeficiency with hyper IgM due to UNG deficiency Immunodeficiency with hyper IgM, X-linked Immunodeficiency with hypopigmentation and neurologic abnormalities Immunodeficiency with immune dysregulation due to FOXP3 deficiency Immunodeficiency with lymphopenia due to CD3 deficiency Immunodeficiency with lymphopenia due to CD45 deficiency Immunodeficiency with lymphopenia due to CORO1A deficiency Immunodeficiency with lymphopenia due to MST1 deficiency Immunodeficiency with lymphopenia due to PTPRC deficiency Immunodeficiency with lymphopenia due to RAC2 deficiency Immunodeficiency with lymphopenia due to TTC7A deficiency Immunodeficiency with lymphoproliferation and autoimmunity Immunodeficiency with multiple intestinal atresias Immunodeficiency with susceptibility to EBV infection Immunodeficiency with susceptibility to fungal infections Immunodeficiency with susceptibility to herpes simplex virus infection Immunodeficiency with susceptibility to HPV infection Immunodeficiency with susceptibility to mycobacterial disease Immunodeficiency with susceptibility to viral infections Immunodeficiency with thymoma Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-epilepsy syndrome Immunodeficiency-intellectual disability syndrome Immunodeficiency-microcephaly syndrome Immunodeficiency-short stature-facial dysmorphism syndrome Immunotherapy induced hypophysitis Imperforate oropharynx-costovertebral anomalies syndrome Imprinting disorders Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Incomplete septal cirrhosis Indeterminate cell histiocytosis Indolent B-cell non-Hodgkin lymphoma Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indomethacin embryofetopathy Infant botulism Infantile apnea Infantile bilateral striatal necrosis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome Infantile CLN1 disease Infantile CLN2 disease Infantile convulsions and choreoathetosis Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile epileptic spasms syndrome Infantile epileptic-dyskinetic encephalopathy Infantile esotropia Infantile facioscapulohumeral muscular dystrophy Infantile free sialic acid storage disease Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis Infantile hemangioma Infantile hepatocerebral mitochondrial DNA depletion syndrome Infantile hypophosphatasia Infantile hypotonia with psychomotor retardation Infantile idiopathic scoliosis Infantile Krabbe disease Infantile liver failure syndrome type 1 Infantile liver failure syndrome type 2 Infantile liver failure syndrome type 3 Infantile liver failure syndrome type 4 Infantile liver failure syndrome type 5 Infantile liver failure syndrome type 6 Infantile malignant osteopetrosis Infantile neuroaxonal dystrophy Infantile onset ascending hereditary spastic paralysis Infantile onset epileptic encephalopathy Infantile onset sialidosis Infantile onset spinal muscular atrophy with respiratory distress Infantile onset spinocerebellar ataxia Infantile spasms syndrome Infantile spondylocostal dysostosis Infantile systemic hyalinosis Infantile systemic lupus erythematosus Infantile tremor syndrome Infantile unilateral striatal necrosis Infantile visceral leishmaniasis Infantile-onset inflammatory bowel disease Infantile-onset multisystem neurologic endocrine pancreatic disease Infantile-onset spinocerebellar degeneration Infantile-onset X-linked spinal muscular atrophy Infectious aortitis Infectious crystalline keratopathy Infectious scleritis Infective Endocarditis Infective myocarditis Inferior Vena-caval Obstruction Inflammatory aortic aneurysm Inflammatory Bowel Disease Inflammatory bowel disease associated with immunodeficiency Inflammatory bowel disease due to IL10 deficiency Inflammatory bowel disease due to IL10 receptor deficiency Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory pseudotumor of kidney Inflammatory pseudotumor of liver Inflammatory pseudotumor of lung Inflammatory pseudotumor of orbit Inflammatory pseudotumor of spleen Inflammatory/autoimmune disorder involving the lacrimal system Infundibulo-neurohypophysitis Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing lymphoproliferative syndrome Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited digestive cancer-predisposing syndrome Inherited epidermodysplasia verruciformis Inherited epidermolysis bullosa Inherited gynecological cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome Inherited human prion disease Inherited ichthyosis Inherited ichthyosis syndromic form Inherited isolated adrenal insufficiency due to STAR deficiency Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, biventricular form Inherited isolated arrhythmogenic cardiomyopathy, left dominant form Inherited isolated arrhythmogenic ventricular cardiomyopathy Inherited nervous system cancer-predisposing syndrome Inherited renal cancer-predisposing syndrome Inherited retinal disorder Inherited zinc deficiency Iniencephaly Inoculation botulism INPP5K-related syndrome Insulin autoimmune syndrome Insulin Resistance Insulin-resistance syndrome type A Insulin-resistance syndrome type B Int22h1/Int22h2 mediated-Xq28 microduplication syndrome Integrinopathy Intellectual disability associated with fragile site FRAXE Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability, Buenos-Aires type Intellectual disability, Mietens-Weber type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome Intellectual disability-craniofacial dysmorphism-cardiac defect syndrome Intellectual disability-craniofacial dysmorphism-short stature syndrome Intellectual disability-craniofacial dysmorphism-skeletal anomalies syndrome Intellectual disability-epilepsy-movement disorder syndrome Intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Intellectual disability-facial dysmorphism-skeletal anomalies syndrome Intellectual disability-hearing loss syndrome Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intellectual disability-macrocephaly syndrome Intellectual disability-microcephaly syndrome Intellectual disability-motor delay syndrome Intellectual disability-myopathy syndrome Intellectual disability-ocular anomalies syndrome Intellectual disability-spasticity syndrome Interatrial communication Intercostal nerve syndrome Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate atrioventricular septal defect Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate Charcot-Marie-Tooth disease Intermediate collagen VI-related muscular dystrophy Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate generalized junctional epidermolysis bullosa Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate uveitis Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent Claudication Intermittent hydrarthrosis Intermittent maple syrup urine disease Internal carotid absence Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interstitial lung disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to NKX2-1 mutation Interstitial lung disease due to surfactant protein B deficiency Interstitial lung disease due to surfactant protein C deficiency Interstitial pneumonia with autoimmune features Interstitial pulmonary fibrosis associated with telomerase defect Intervertebral Disc Rupture Intestinal duplication Intestinal epithelial dysplasia Intestinal epithelial dysplasia, syndromic form Intestinal failure Intestinal lymphangiectasia Intestinal malrotation Intestinal neuronal dysplasia Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intestinal pseudo-obstruction Intestinal pseudo-obstruction, chronic idiopathic Intestinal pseudo-obstruction, familial visceral myopathy type Intestinal pseudo-obstruction, familial visceral neuropathy type Intestinal vascular malformation Intracranial aneurysm, familial Intracranial calcification syndrome Intracranial germinoma Intracranial hypertension, idiopathic Intracranial lipoma Intracranial meningioma, familial Intracranial teratoma Intrauterine Growth Restriction Intrinsic factor deficiency Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease Isochromosome Y syndrome Isochromosomy Yp syndrome Isochromosomy Yq syndrome Isolated absence of both forearm and hand Isolated absence of both lower leg and foot Isolated absence of thigh and lower leg with foot present Isolated absence of upper arm and forearm with hand present Isolated absence/hypoplasia of fingers excluding thumb, unilateral Isolated acheiria Isolated acheiropodia Isolated adrenal medullary hyperplasia Isolated agenesis of gallbladder Isolated amelia of lower limb Isolated amelia of upper limb Isolated amyelia Isolated anal canal duplication Isolated angioid streaks Isolated ankyloblepharon filiforme adnatum Isolated anogenital granulomatosis Isolated anterior cervical hypertrichosis Isolated apodia Isolated arhinencephaly Isolated arrhinia Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated atrial septal defect Isolated atrioventricular block, congenital Isolated basilar invagination Isolated bilateral renal agenesis Isolated brachydactyly type A1 Isolated brachydactyly type A2 Isolated brachydactyly type A3 Isolated brachydactyly type B Isolated brachydactyly type C Isolated brachydactyly type D Isolated brachydactyly type E Isolated bronchogenic cyst Isolated congenital diaphragmatic hernia Isolated congenital ptosis Isolated congenital pulmonary airway malformation Isolated congenital tracheal stenosis Isolated coronal craniosynostosis Isolated craniosynostosis Isolated ectopia lentis Isolated familial exudative vitreoretinopathy Isolated generalized epilepsy Isolated hemihyperplasia Isolated hypogonadotropic hypogonadism Isolated lateral meningocele Isolated left bronchial isomerism Isolated left pulmonary artery sling Isolated left ventricular noncompaction Isolated levocardia Isolated lissencephaly type 1 without known genetic defects Isolated lower lip fistula Isolated lower lip pits Isolated macular dystrophy Isolated median cleft face syndrome Isolated megalencephaly Isolated megalopapilla Isolated melanocytic schwannoma Isolated melanotic schwannoma Isolated mesenteric lipodystrophy Isolated mesenteric vein thrombosis Isolated metopic and sagittal craniosynostosis Isolated metopic craniosynostosis Isolated micronodular adrenocortical disease Isolated microspherophakia Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated multicystic dysplastic kidney Isolated nail clubbing Isolated nephrogenic diabetes insipidus Isolated neural tube defect Isolated neuronal ceroid lipofuscinosis Isolated noncompaction cardiomyopathy Isolated oligodontia Isolated osteogenesis imperfecta Isolated partial atrioventricular septal defect Isolated patent ductus arteriosus Isolated Pierre Robin sequence with developmental delay Isolated pituitary hormone deficiency Isolated posterior cervical hypertrichosis Isolated postnatal microcephaly Isolated primary microcephaly Isolated pulmonary artery of ductal origin Isolated pulmonary capillaritis Isolated pulmonary valve stenosis Isolated pyramidal syndrome Isolated radial ray defect Isolated renal magnesium wasting Isolated rhombencephalosynapsis Isolated right atrial isomerism Isolated right ventricular hypoplasia Isolated sagittal craniosynostosis Isolated sedoheptulokinase deficiency Isolated segmental infantile hemangioma Isolated small intestine duplication Isolated splenic vein thrombosis Isolated splenogonadal fusion Isolated split hand-split foot malformation Isolated spontaneous cervical artery dissection Isolated stationary inherited retinal disorder Isolated sternocostoclavicular hyperostosis Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated tetra-amelia Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated tibial hemimelia Isolated tibio-fibular synostosis Isolated total cerebellar vermis agenesis Isolated tracheoesophageal fistula Isolated transitional filum lipoma Isolated tubular duplication of the esophagus Isolated ulnar hemimelia Isolated unilateral hemispheric cerebellar hypoplasia Isolated unisquamosal craniosynostosis Isolated unisutural craniosynostosis Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isolated vitreoretinopathy Isomerism of left atrial appendage Isosporiasis Isotretinoin syndrome Isotretinoin-like syndrome ISPD-related limb-girdle muscular dystrophy R20 ISSD ITK deficiency ITM2B amyloidosis ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ITPN IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr Syndrome Jackson-Weiss Syndrome Jaffe-Campanacci Syndrome Jaffe-Lichtenstein Disease Jagell-Holmgren-Hofer Syndrome Jamaican Vomiting Sickness Jancar Syndrome Jankovic-Rivera Syndrome Jansen-de Vries Syndrome Jaw-Winking Syndrome Jawad Syndrome Jeavons Syndrome Jejunal Atresia Microcephaly Ocular Anomalies Syndrome Jessner Lymphocytic Infiltration of the Skin Johnson Neuroectodermal Syndrome Johnson Syndrome Johnson-McMillin Syndrome Johnson-Munson Syndrome Johnston-Aarons-Schelley Syndrome Joint Instability Syndrome Jones Syndrome Joubert Syndrome with Ocular Defect Joubert Syndrome with Renal Defect Joubert Syndrome with Retinopathy Juberg-Hayward Syndrome Junctional Ectopic Tachycardia Junctional Epidermolysis Bullosa, Disentis Type Junctional Epidermolysis Bullosa, Herlitz Type Junctional Epidermolysis Bullosa, non-Herlitz Localized Type Jung Syndrome Junin Hemorrhagic Fever Jussieu Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Aponeurotic Fibromatosis Juvenile Bone Cyst Juvenile Canavan Disease Juvenile Cataract Microcornea Renal Glucosuria Syndrome Juvenile Charcot Disease Juvenile CLN Disease Juvenile Dermatomyositis Juvenile Elastoma without Osteopoikilosis Juvenile Enthesitis-Related Arthritis Juvenile Gastrointestinal Polyposis Juvenile Glaucoma Juvenile GM1 Gangliosidosis Juvenile Hemochromatosis Juvenile Hyaline Fibromatosis Juvenile Idiopathic Inflammatory Myopathy Juvenile Inflammatory Arthritis Juvenile Intestinal Polyposis Juvenile Lou Gehrig Disease Juvenile Muscular Atrophy of the Distal Upper Limb Juvenile Myasthenia Gravis Juvenile Nasopharyngeal Angiofibroma Juvenile Nephronophthisis Juvenile Nephropathic Cystinosis Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Osteoporosis Juvenile Overlap Myositis Juvenile Paget Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Juvenile Periodontitis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis of Infancy Juvenile Polyposis Syndrome Juvenile Primary Lateral Sclerosis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juvenile-onset Diabetes Mellitus Central and Peripheral Neurodegeneration Syndrome Juvenile-onset Multiple Carboxylase Deficiency Juvenile-onset Myotonic Dystrophy Type 1 Juvenile-onset Steinert Disease Juvenile-onset Vitelliform Macular Dystrophy Juxtaposition of the Atrial Appendages K+-aggravated myotonia Kabuki Syndrome Kaeser syndrome Kagami-Ogata syndrome Kaler-Garrity-Stern syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karsch-Neugebauer syndrome Karyomegalic interstitial nephritis Kasabach-Merritt phenomenon KAT5-related neurodevelopmental disorder KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome KAT6A syndrome KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome Kaya-Barakat-Masson syndrome Kaya-Prontera syndrome KBG syndrome KCNE1-related isolated congenital long QT syndrome KCNE2-related isolated congenital long QT syndrome KCNH2-related isolated congenital long QT syndrome KCNK9 imprinting syndrome KCNQ1-related isolated congenital long QT syndrome KCNQ2-related developmental and epileptic encephalopathy KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM5C-related syndromic X-linked intellectual disability Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Paterson syndrome Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratinopathic ichthyosis Keratitis fugax hereditaria Keratitis-ichthyosis-deafness syndrome Keratoconjunctivitis Sicca Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratoendotheliitis fugax hereditaria Keratolytic winter erythema Keratomycosis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris varians of Wachters Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantaris-esophageal syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis pilaris atrophicans Kerion celsi Kernicterus Kernicterus spectrum disorder Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Kidney dysplasia Kidney dysplasia, bilateral Kidney dysplasia, unilateral Kidney tubulopathy-dilated cardiomyopathy syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kilquist syndrome Kimura disease Kindler epidermolysis bullosa Kindler syndrome Kinetic abnormalities of the acetylcholine receptor King-Denborough syndrome Kinsbourne syndrome Kjellin syndrome carcinoma syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Crisponi/cold induced sweating-like syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klinefelter Syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil Syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome KMT2B-related dystonia KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT5B haploinsufficiency neurodevelopmental disorder Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohler disease Kohlschütter-Tönz syndrome Kok disease Kommerell diverticulum Komuragaeri disease Koolen-De Vries syndrome Kopysc-Barczyk-Krol syndrome Kosaki overgrowth syndrome Kosenow syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krasnow-Qazi syndrome Krause-Kivlin syndrome Krebs cycle disorder Kreiborg-Pakistani syndrome KRT1-related diffuse NEPPK KRT1-related diffuse nonepidermolytic keratoderma Kufor-Rakeb syndrome Kufs disease type B Kugelberg-Welander disease Kunze-Riehm syndrome Kuru Kuskokwim syndrome Kuzniecky syndrome Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome Kyphosis-lateral tongue atrophy myofibrillar myopathy syndrome Küttner tumor Köhlmeier-Degos disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-ferritin deficiency L-glyceric aciduria L1 syndrome La Crosse encephalitis Laband syndrome Labrune syndrome Lacrimal drainage system anomaly Lacrimal drainage system anomaly of genetic origin Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LADD syndrome Ladda-Zonana-Ramer syndrome Laing distal myopathy LAMA2-related muscular dystrophy LAMA5-related multisystemic syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related late-onset muscular dystrophy Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Laminopathy Laminopathy with lipodystrophy Laminopathy with peripheral neuropathy Laminopathy with premature aging Laminopathy with striated muscle involvement LAMM syndrome Landau-Kleffner syndrome Landing disease Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans Cell Histiocytosis Langerhans cell sarcoma Laparoschisis LARD syndrome Large cell lymphoma of the mediastinum Large granular lymphocyte leukemia Large segmental hemangioma Large/giant congenital melanocytic nevus Laron syndrome with immunodeficiency Laron-like syndrome Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx anomaly Larynx atresia Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile neuronal ceroid lipofuscinosis type 1 Late infantile neuronal ceroid lipofuscinosis type 10 Late infantile neuronal ceroid lipofuscinosis type 2 Late infantile neuronal ceroid lipofuscinosis type 5 Late infantile neuronal ceroid lipofuscinosis type 6 Late infantile neuronal ceroid lipofuscinosis type 8 Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset brain arteriovenous fistula Late-onset citrullinemia type 1 Late-onset combined immunodeficiency due to ICOS deficiency Late-onset combined immunodeficiency due to ICOSL deficiency Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset familial encephalopathy with neuroserpin inclusion bodies Late-onset familial hyperreninemic hypoaldosteronism Late-onset familial hypoaldosteronism Late-onset focal dermal elastosis Late-onset idiopathic chronic pancreatitis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset myotonic dystrophy type 1 Late-onset nephronophthisis Late-onset Pompe disease Late-onset primary lymphedema without systemic or visceral involvement Late-onset retinal degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset spinal arteriovenous fistula Late-onset spinal motor neuronopathy Late-onset SPMD with hyaline bodies Late-onset Tay-Sachs disease Lateral facial cleft Lateral meningocele syndrome Lathosterolosis Lattice corneal dystrophy type 1 Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome Lead poisoning Learman syndrome Leber miliary aneurysm Leber optic atrophy Leber plus disease Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left atrial isomerism Left Atrial Isomerism Left bronchial isomerism without heterotaxy Left coronary artery from right aortic sinus Left isomerism Left renal vein entrapment syndrome Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac Saint-Jean type Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminata Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome LEMD2-associated nuclear envelopathy with early progeroid appearance Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens position anomaly Lens position anomaly of genetic origin Lens shape anomaly Lens size anomaly Lens size anomaly of genetic origin Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia syndrome Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprosy Leprosy Leptomeningeal melanomatosis Leri pleonosteosis Léri-Weill dyschondrosteosis Lethal 1p36.33 deletion syndrome Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects Lethal chondrodysplasia Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal faciocardiomelic dysplasia Lethal fetal brain malformation duodenal atresia-bilateral renal hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis-hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephaly diaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal hyperkeratosis-contracture syndrome Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal midline granuloma Lethal multiple congenital anomalies-dysmorphic syndrome Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal polymalformative syndrome, Boissel type Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia pulmonary hypoplasia syndrome Lethal tight skin-contracture syndrome Letrozole toxicity Leucoplakia - Oral / Hairy Leukaemia Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy Leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy with oligodontia Leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levocardia Levocardia with situs inversus Levy-Hollister syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LGMD D5 collagen VI-related dystrophy LGMD R22 collagen VI-related dystrophy Lhermitte-Duclos disease Li-Fraumeni syndrome Liang-Wang syndrome Liberfarb syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen myxedematosus Lichen planopilaris Lichen planus Lichen planus pemphigoides Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Limb body wall complex Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 2X Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to BVES deficiency Limb-girdle muscular dystrophy due to BVES deficiency (BVES-related LGMD) Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2B Limb-girdle muscular dystrophy type 2C Limb-girdle muscular dystrophy type 2D Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2G Limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy type 2M Limb-girdle muscular dystrophy type 2N Limb-girdle muscular dystrophy type 2O Limb-girdle muscular dystrophy type 2P Limb-girdle muscular dystrophy type 2Q Limb-girdle muscular dystrophy type 2S Limb-girdle muscular dystrophy type 2T Limb-girdle muscular dystrophy type 2U Limb-girdle muscular dystrophy type 2X Limb-girdle muscular dystrophy type 2Y Limb-girdle muscular dystrophy type 2Z Limb-girdle muscular dystrophy type D4 Limb-girdle muscular dystrophy type R23 Limb-girdle muscular dystrophy type R24 Limb-girdle muscular dystrophy type R28 Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophy-intellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis Limbic encephalitis-neuromyotonia syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Limit dextrinosis Limited cutaneous systemic sclerosis Limited dorsal myeloschisis Lindau disease Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear IgA dermatosis Linear lichen planus Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy Lipid storage disease Lipid storage myopathy Lipoamide dehydrogenase deficiency Lipoate biosynthesis defect Lipoatrophia semicircularis Lipoatrophy caused by injected drug Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid Nephrosis Lipoid Proteinosis Lipoid proteinosis Lipoma of the filum terminale Lipomatosis dolorosa Lipomatous flat limited dorsal myeloschisis Lipomatous mesenteritis Lipomatous non-saccular limited dorsal myeloschisis Lipomucopolysaccharidosis Lipoprotein deficiency Lipoprotein glomerulopathy Lipoprotein lipase deficiency Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisch nodules Lisch syndrome Lisker-Garcia-Ramos syndrome Lison syndrome Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, Norman Roberts type Lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 Lissencephaly type 2 with muscular and ocular involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Littoral cell angioma of the spleen Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis with summer ulcerations Livedo reticularis-cerebrovascular accident syndrome Livedo-like dermatitis Livedoid vasculopathy Liver Abscess Liver adenomatosis Liver cirrhosis due to metabolic disease Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Liver Failure Liver fibrosis Liver fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Liver glycogen phosphorylase deficiency LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy Lobar holoprosencephaly Lobstein disease LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa, acral form Localized dystrophic epidermolysis bullosa, nails only Localized dystrophic epidermolysis bullosa, pretibial form Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized intravascular coagulation Localized junctional epidermolysis bullosa Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lipodystrophy Localized pagetoid reticulosis Localized pleural mesothelioma Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Loiasis Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Long QT syndrome type 5 Long QT syndrome type 6 Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Loricrin keratoderma Lou Gehrig disease Loucks-Innes syndrome Louis-Bar syndrome Low oxygen affinity alpha chain hemoglobin disease Low oxygen affinity beta chain hemoglobin disease Low oxygen affinity gamma chain hemoglobin disease Low oxygen affinity hemoglobin disease Low phospholipid-associated cholelithiasis Low resistance capillary malformation Low-flow priapism Low-flow vascular malformation of the bone Low-grade appendiceal mucinous neoplasm Low-grade astrocytoma Low-grade neuroendocrine tumor of the corpus uteri Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe-Kohn-Cohen syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower limb hypertrophy Lower limb malformation hypospadias syndrome Lower motor neuron syndrome with late-adult onset Lower urinary tract obstruction Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LQTS type 8 LRP5-related primary osteoporosis LTC4 synthase deficiency Lubag disease Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lucey-Driscoll syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung Carcinoma Lung fibrosis immunodeficiency-46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Luscan-Lumish syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Lyell syndrome Lyme borreliosis Lymphangioma Lymphatic filariasis Lymphatic-venous malformation Lymphedema with yellow nails Lymphedema-atrial septal defects-facial changes syndrome Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome Lymphedema-lymphangiectasia intellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic mastitis Lymphocytic mastopathy Lymphocytic variant HES Lymphoepithelial cyst of the pancreas Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid eosinophilic syndrome Lymphoid hemopathy Lymphoid HES Lymphoid interstitial pneumonia Lymphoma Lymphoma Lymphoma Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lymphoproliferative disease associated with primary immune disease Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome Lysine alpha-ketoglutarate reductase deficiency Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal alpha-D-mannosidase deficiency, juvenile form Lysosomal disease Lysosomal disease with epilepsy Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy Lysosomal glycogen storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal involvement Lysosomal storage disorder due to saposin B deficiency Lysozyme amyloidosis Lysyl hydroxylase-deficient EDS Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-congenital heart disease-facial dysmorphism syndrome Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular noncompaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADA MADaM MADD MADD, mild type MADD, severe neonatal type MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome Maffucci syndrome with spindle cell hemangiomas MAGIC syndrome Magnesium transporter defect-intellectual disability syndrome Magnetic gait disorder Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major congenital anomaly syndrome, multiple Major depressive disorder, familial early-onset type Major histocompatibility complex class I deficiency Major histocompatibility complex class II deficiency Major omphalocele Makrydimas syndrome Mal de débarquement Mal de Meleda Malabsorption Malakoplakia Malan overgrowth syndrome Malaria, congenital Malaria, severe complicated type Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to chromosome Y microdeletion Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Malformation of the anal canal and the rectum Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the esophagus Malformation of the intestine Malformation of the neurenteric canal, spinal cord and column Malformation of the stomach and the duodenum Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant blue nevus Malignant carcinoid syndrome Malignant chondroid syringoma Malignant cutaneous adnexal tumor, unspecified Malignant cylindroma Malignant eccrine poroma Malignant eccrine spiradenoma Malignant epithelial tumor of ovary Malignant epithelial tumor of pancreas Malignant epithelial tumor of stomach Malignant germ cell tumor of ovary Malignant germ cell tumor of testis Malignant glomus tumor Malignant granular cell tumor Malignant hidradenoma Malignant mesenchymal tumor of bladder Malignant mesenchymal tumor of uterus Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor Malignant myoepithelioma Malignant nodular hidradenoma Malignant odontogenic tumor Malignant ossifying fibromyxoid tumor Malignant otitis externa Malignant ovarian stromal tumor Malignant PEComa Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant perivascular epithelioid cell tumor Malignant pertussis Malignant pilomatricoma Malignant pleural tumor, rare type Malignant proliferating trichilemmal tumor Malignant renal epithelial tumor Malignant rhabdoid tumor Malignant rhabdoid tumor of kidney Malignant rhabdoid tumor of liver Malignant rhabdoid tumor of soft tissue Malignant smooth muscle tumor Malignant spiradenoma Malignant stromal tumor of gastrointestinal tract Malignant trichoblastoma Malignant triton tumor Malignant tumor of adrenal cortex Malignant tumor of bile duct Malignant tumor of bone, rare type Malignant tumor of brain, rare type Malignant tumor of gallbladder Malignant tumor of larynx, rare type Malignant tumor of liver, rare type Malignant tumor of lung, rare type Malignant tumor of nasal cavity Malignant tumor of pancreas, rare type Malignant tumor of paranasal sinus Malignant tumor of skin, rare type Malignant tumor of small intestine Malignant tumor of spleen Malignant tumor of thymus Malignant tumor of thyroid gland, rare type Malignant tumor of trachea Malignant tumor of ureter Malignant tumor of urethra Malignant tumor of vulva, rare type Malignant vascular tumor, rare type Mandibulo-palpebral synkinesisptosis syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, GuionAlmeida type Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosidase alpha class 2B member 2-congenital disorder of glycosylation Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle zone lymphoma MAP Map-dot-fingerprint dystrophy Marbach-Rustad progeroid syndrome Marbach-Schaaf neurodevelopmental syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan Syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome Marfanoid habitus-inguinal herniaadvanced bone age syndrome Marfanoid syndrome, De Silva type Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome type 2 Maroteaux type acromesomelic dysplasia Maroteaux-Lamy-like syndrome Maroteaux-type spondyloepimetaphyseal dysplasia Marrow hypoplasia with immunodeficiency syndrome Marshall syndrome Marshall-Smith syndrome Martinez-Frias syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastitis Mastocytoma Mastocytosis, systemic with associated hematologic neoplasm Mastocytosis, diffuse cutaneous Mastocytosis, indolent systemic Mastocytosis, smoldering systemic Mastocytosis, systemic aggressive type Mastocytosis-associated hematologic neoplasm Maternal uniparental disomy 14 syndrome Maternal uniparental disomy 15 syndrome Maternal uniparental disomy 20 syndrome Maternal uniparental disomy 7 syndrome Mathieu-De Broca-Bony syndrome Matthews syndrome May-Hegglin anomaly May-Hegglin anomaly variant May-Hegglin anomaly with Döhlelike bodies Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MBD5-associated neurodevelopmental disorder McArdle disease McArdle disease, late-onset form McArdle disease, severe infantile form McCune-Albright-like syndrome McDonough syndrome McKusick type metaphyseal chondrodysplasia McLeod neuroacanthocytosis syndrome McLeod syndrome with cardiomyopathy McLeod syndrome with cardiomyopathy and arrhythmia McLeod syndrome with hematologic and neurologic features McLeod syndrome with hematological abnormalities McLeod syndrome with multisystem involvement McLeod syndrome with neurodegeneration McLeod syndrome with neuropsychiatric features McLeod syndrome with progressive neurodegeneration McLeod syndrome McLeod syndrome with ataxia McLeod syndrome with autonomic dysfunction McLeod syndrome with behavioral disorder McLeod syndrome with cardiac involvement McLeod syndrome with chorea McLeod syndrome with cognitive impairment McLeod syndrome with dysarthria McLeod syndrome with dysphagia McLeod syndrome with dystonia McLeod syndrome with early-onset presentation McLeod syndrome with elevated creatine kinase McLeod syndrome with extrapyramidal features McLeod syndrome with hemolytic anemia McLeod syndrome with incomplete penetrance McLeod syndrome with late-onset presentation McLeod syndrome with movement disorder McLeod syndrome with muscle weakness McLeod syndrome with muscular involvement McLeod syndrome with myopathy McLeod syndrome with peripheral blood abnormalities McLeod syndrome with peripheral neuropathy McLeod syndrome with psychiatric and neurological features McLeod syndrome with psychiatric manifestations McLeod syndrome with seizures McLeod syndrome with spasticity McLeod syndrome with tremor McLeod syndrome with variable expressivity McLeod syndrome, atypical form McLeod syndrome, X-linked Meckel-like syndrome Meckel-like syndrome type 1 Meckel-like syndrome type 2 Meckel-like syndrome type 3 Meckel-like syndrome type 4 Meckel-like syndrome type 5 Meckel-like syndrome type 6 Meckel-like syndrome type 7 Meckel-like syndrome type 8 Meckel-like syndrome type 9 Meconium ileus Meconium ileus equivalent Meconium peritonitis Medial tibial stress syndrome Median arcuate ligament syndrome Median cleft lip Median cleft mandible Median facial cleft syndrome Median nail dystrophy Median raphe cyst Mediastinal non-seminomatous germ cell tumor Mediastinal Fibrosis Mediastinal germ cell tumor Mediastinal Granuloma Mediastinal seminoma Mediastinitis, chronic fibrosing type Medulloblastoma, rare subtype Meesmann corneal dystrophy Meester-Loeys syndrome MEF2C-related syndrome Mega-cisterna magna Megacalycosis Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemiaimmunodeficiency due to folate transporter 1 deficiency Megaloblastic Anaemia Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Megaoesophagus Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome MEI Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome MEITL Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of choroid Melanoma of soft tissue Melanoma of uvea Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS syndrome with lactic acidosis MELAS syndrome with ocular involvement MELAS syndrome with renal involvement MELAS syndrome with gastrointestinal involvement MELAS syndrome with multisystem involvement MELAS syndrome with cardiomyopathy MELAS syndrome with cardiomyopathy and arrhythmia MELAS syndrome with diabetes MELAS syndrome with endocrine dysfunction MELAS syndrome with epilepsy MELAS syndrome with hearing loss MELAS syndrome with movement disorder MELAS syndrome with myopathy MELAS syndrome with neuropathy MELAS syndrome with progressive neurodegeneration MELAS syndrome with psychiatric manifestations MELAS syndrome with stroke-like episodes MELAS syndrome, atypical form MELAS syndrome, childhood-onset type MELAS syndrome, late-onset type MELAS syndrome, maternally inherited form MELAS-like syndrome Meleda disease Melhem-Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melphalan-induced pulmonary toxicity Melphalan-related acute myeloid leukemia Melphalan-related myelodysplastic syndrome Membranoproliferative glomerulonephritis Membranous aplasia cutis congenita Membranous nephropathy, idiopathic Membranous nephropathy, secondary Membranous cataract Membranous glomerulonephritis Mendelian susceptibility to mycobacterial disease, IL-12 p40 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?1 deficiency Mendelian susceptibility to mycobacterial disease, IRF8 deficiency Mendelian susceptibility to mycobacterial disease, ISG15 deficiency Mendelian susceptibility to mycobacterial disease, NEMO deficiency Mendelian susceptibility to mycobacterial disease, STAT1 deficiency Mendelian susceptibility to mycobacterial disease, autosomal dominant form Mendelian susceptibility to mycobacterial disease, autosomal recessive form Mendelian susceptibility to mycobacterial disease, complete IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, IFN-? pathway defect, unspecified Mendelian susceptibility to mycobacterial disease, IFN-gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?2 deficiency Mendelian susceptibility to mycobacterial disease, JAK1 deficiency Mendelian susceptibility to mycobacterial disease, JAK2 deficiency Mendelian susceptibility to mycobacterial disease, partial IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, ROR?T deficiency Mendelian susceptibility to mycobacterial disease, SPPL2A deficiency Mendelian susceptibility to mycobacterial disease, TYK2 deficiency Mendelian susceptibility to mycobacterial disease, X-linked form Mendelian susceptibility to mycobacterial infections Ménétrier disease Mengel-Konigsmark syndrome Meniere's Disease Meningeal Haemorrhage Meningeal melanocytoma Meningioma Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menke-Hennekam syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERS Mesangiocapillary glomerulonephritis Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenchymal hamartoma of liver Mesenteric Adenitis Mesenteric lipogranuloma Mesenteric panniculitis Mesenteric Vein Thrombosis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, KozlowskiReardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma of the tunica vaginalis Mesulam syndrome Metabolic myopathy due to carnitine palmitoyltransferase I deficiency Metabolic myopathy due to carnitine palmitoyltransferase II deficiency Metabolic myopathy due to coenzyme Q10 deficiency Metabolic myopathy due to glycerol kinase deficiency Metabolic myopathy due to mitochondrial trifunctional protein deficiency Metabolic myopathy due to mitochondrial DNA depletion syndrome Metabolic myopathy due to mitochondrial respiratory chain defect Metabolic myopathy due to multiple acyl-CoA dehydrogenase deficiency Metabolic myopathy due to neutral lipid storage disease Metabolic myopathy due to phosphoglycerate kinase deficiency Metabolic myopathy due to phosphoglycerate mutase deficiency Metabolic myopathy due to primary carnitine deficiency Metabolic neurotransmission anomaly with epilepsy Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic diseases with epilepsy Metabolic myopathy Metabolic myopathy due to betaenolase deficiency Metabolic myopathy due to fatty acid oxidation disorder Metabolic myopathy due to glycogen storage disease type IX Metabolic myopathy due to glycogen storage disease type V Metabolic myopathy due to glycogen storage disease type VII Metabolic myopathy due to lactate dehydrogenase deficiency Metabolic myopathy due to lactate transporter defect Metabolic myopathy due to phosphofructokinase deficiency Metabolic myopathy due to pyruvate carboxylase deficiency Metabolic myopathy due to pyruvate dehydrogenase deficiency Metabolic myopathy due to very long-chain acyl-CoA dehydrogenase deficiency Metabolic myopathy with exercise intolerance Metabolic myopathy with recurrent rhabdomyolysis Metabolic myopathy, unspecified Metachondromatosis Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Rosenberg type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal anadysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metastases without primary tumor Metastatic vascular neoplasm Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methionine adenosyltransferase I/ III deficiency Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylenetetrahydrofolate dehydrogenase 1 deficiency Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic aciduria, intermediate type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to MMAA deficiency Methylmalonic aciduria due to MMAB deficiency Methylmalonic aciduria due to MMADHC deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria, cblD type Methylmalonic aciduria, cblH type Methylmalonic aciduria, cblX type Methylmalonic aciduria, combined type Methylmalonic aciduria, isolated type Methylmalonic aciduria, neonatal type Methylmalonic aciduria, vitamin B12-responsive type Methylmalonyl-CoA epimerase deficiency Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA racemase deficiency Methylthioadenosine phosphorylase deficiency Metronidazole neurotoxicity Metronidazole-induced encephalopathy Mevalonate kinase deficiency Mevalonic aciduria Mevalonic aciduria, mild type Mevalonic aciduria, severe type Mexican type sialidosis Mianserin-induced agranulocytosis Micrencephaly Microangiopathic hemolytic anemia Microangiopathy, retinal Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic primordial dwarfism type I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type III Microcephalic osteodysplastic primordial dwarfism type IV Microcephaly with early-onset seizures and developmental delay Microcephaly with spastic quadriplegia Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 10 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 12 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 13 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 14 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 15 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 2 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 25 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 26 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 27 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 28 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 29 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 3 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 34 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 35 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 36 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 37 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 38 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 39 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 4 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 40 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 5 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 6 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 7 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 8 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 9 Microcephaly with or without chorioretinopathy, lymphoedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 16 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 17 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 18 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 19 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 20 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 21 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 22 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 23 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 24 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 30 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 31 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 32 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 33 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 41 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 42 Microcephaly with pontine and cerebellar hypoplasia Microcephaly with simplified gyral pattern Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-chorioretinopathy syndrome Microcephaly-corpus callosum agenesis-intellectual disability syndrome Microcephaly-deafness syndrome Microcephaly-epilepsy syndrome Microcephaly-eye anomalies syndrome Microcephaly-facial dysmorphism syndrome Microcephaly-hypogonadism syndrome Microcephaly-intellectual disability syndrome, autosomal recessive type Microcephaly-lissencephaly syndrome Microcephaly-micromelia syndrome Microcephaly-seizures syndrome Microcephaly-short stature syndrome Microcephaly-simplified gyral pattern-epilepsy syndrome Microcephaly-spastic diplegia syndrome Microcephaly-spastic quadriplegia syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-spasticity syndrome Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic lymphatic malformation Microcystic infiltrating lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdeletion of the AZF region on the Y chromosome Microdontia-type I microtiadeafness syndrome Microduplication Xp11.22p11.23 syndrome Microduplication 17p12 Microform holoprosencephaly Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-motor delaylanguage delay-brain anomaliesdiaphragmatic hernia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microscopic polyangiitis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 syndrome Microvenular haemangioma Microvillus inclusion disease Micturation-induced seizures Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Midline cerebral malformation Midline cervical cleft Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mikati-Najjar-Sahli syndrome Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller Fisher syndrome Mills syndrome Milroy disease Minimal change nephropathy Minimal pigment oculocutaneous albinism type 1 MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome Mirizzi syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror-image polydactyly Miscarriage Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA MiT family translocation renal cell carcinoma Mitchell Syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial Disorder Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy- aminoacidopathy syndrome Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathycerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a largescale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial short-chain enoylCoA hydratase 1 deficiency Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral regurgitation-deafnessskeletal anomalies syndrome Mitral atresia Mitral Regurgitation Mitral Stenosis Mitral valve agenesis Mitral Valve Insufficiency Mitral Valve Prolapse Mitten hand Mixed autoinflammatory and autoimmune syndrome Mixed functioning pituitary adenoma Mixed AIHA Mixed connective-tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and nonneuroendocrine neoplasm of pancreas Mixed phenotype acute leukemia with t(9;22)(q34;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia, B/myeloid, NOS Mixed phenotype acute leukemia, T/myeloid, NOS Mixed polyposis syndrome Mixed-type autoimmune hemolytic anemia MKKS-related Bardet-Biedl syndrome MKS1-related Joubert syndrome MKS1-related Meckel syndrome MKX deficiency MLASA syndrome due to mitochondrial tyrosyl-tRNA synthetase deficiency MLASA syndrome due to pseudouridine synthase deficiency MLASA syndrome MMAA-related methylmalonic aciduria MMAB-related methylmalonic aciduria MMACHC-related methylmalonic aciduria with homocystinuria MMADHC-related methylmalonic aciduria with homocystinuria MMAF MME-related axonal neuropathy MME-related late-onset CharcotMarie-Tooth disease MMIHS MMIHS with congenital mydriasis MMN MNGIE syndrome Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MOGS-CDG Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptinmelanocortin pathway anomaly Monogenic SRNS Monomelic amyotrophy Monomorphic epitheliotropic intestinal T-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q Monosomy 11q23 deletion syndrome Monosomy 12p Monosomy 13q Monosomy 14q11.2 Monosomy 14q22q23 Monosomy 14q32 Monosomy 15q Monosomy 16p13.3 Monosomy 16q Monosomy 17p Monosomy 17p13.3 Monosomy 17q Monosomy 18p Monosomy 18q Monosomy 19p13.3 Monosomy 19q13 Monosomy 20p Monosomy 20q Monosomy 21q Monosomy 22q11.2 Monosomy 22q13 Monosomy X Monosomy X mosaicism Monosomy Xp Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan syndrome Mosaic genome-wide paternal uniparental disomy syndrome Mosaic paternal uniparental disomy of chromosome 11 Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 Mosaic variegated aneuploidy syndrome type 2 Mosaic Legius syndrome Mosaic monosomy X syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic schwannomatosis Mosaic trisomy 1 syndrome Mosaic trisomy 10 syndrome Mosaic trisomy 12 syndrome Mosaic trisomy 14 syndrome Mosaic trisomy 15 syndrome Mosaic trisomy 16 syndrome Mosaic trisomy 17 syndrome Mosaic trisomy 18 syndrome Mosaic trisomy 19 syndrome Mosaic trisomy 2 syndrome Mosaic trisomy 20 syndrome Mosaic trisomy 21 syndrome Mosaic trisomy 22 syndrome Mosaic trisomy 3 syndrome Mosaic trisomy 4 syndrome Mosaic trisomy 5 syndrome Mosaic trisomy 6 syndrome Mosaic trisomy 7 syndrome Mosaic trisomy 8 syndrome Mosaic trisomy 9 syndrome Mosaic trisomy X syndrome Mosaic trisomy Y syndrome Mosaicism with genome instability syndrome Motor Neuron Disease Mounier-Kuhn syndrome Mowat-Wilson syndrome Moyamoya angiopathy, idiopathic Moyamoya disease Moyamoya Disease Moyamoya disease with earlyonset achalasia Moynahan syndrome MPDU1-CDG MPI-CDG MRCS syndrome MSH3-related polyposis MT-ATP6-related mitochondrial spastic paraplegia MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Mu-heavy chain disease MUC1-related autosomal dominant tubulointerstitial kidney disease Mucinous adenocarcinoma of ovary Mucinous cystadenoma of childhood Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous venous malformations Mucocutaneous Candidiasis Mucolipidosis Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 10 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type IS Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucormycosis Mucosa-associated lymphoid tissue lymphoma Mucosulfatidosis Mucous membrane pemphigoid Mudd's disease Mueller-Weiss syndrome Mulibrey nanism Mullerian Duct Aplasia Multicentric carpotarsal osteolysis syndrome Multicentric Castleman disease Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic Dysplastic Kidney Multifocal papillary thyroid carcinoma Multifocal superficial thrombophlebitis Multifocal atrial tachycardia Multifocal epithelial hyperplasia Multifocal fibrosclerosis Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal osteomyelitis, chronic recurrent Multifocal renal cell carcinoma Multifocal skeletal tuberculosis Multifocal vascular malformations syndrome Multifocal ventricular arrhythmia Multiglandular parathyroid disease Multiminicore disease Multinodular and vacuolating neuronal tumor Multinodular goiter Multiple congenital anomalieshypotonia-seizures syndrome Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasiamacrocephaly-facial dysmorphism syndrome Multiple epiphyseal dysplasiaminiepiphyses syndrome Multiple epiphyseal dysplasiasevere proximal femoral dysplasia syndrome Multiple isolated café-au-lait syndrome Multiple keratoacanthoma, Ferguson-Smith type Multiple mtDNA deletion syndrome Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium-malignant hyperthermia syndrome Multiple self-healing squamous epithelioma Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple acyl-CoA dehydrogenase deficiency Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 7 Multiple evanescent white dot syndrome Multiple glomus tumors Multiple hamartoma syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism congenital heart defects syndrome Multiple keratoacanthoma Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple ossifying fibroma Multiple pterygium syndrome Multiple sclerosis variant Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple venous malformations (Bean syndrome) Multisystem inflammatory syndrome in children and adults Multisystem Langerhans cell histiocytosis Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Muscle enolase deficiency Muscle filaminopathy Muscle glycogen storage disease due to phosphoglucomutase deficiency Muscle glycogen storage disease with exercise intolerance Muscle LIM protein deficiency Muscle phosphofructokinase deficiency Muscle phosphoglycerate kinase deficiency Muscle phosphoglycerate mutase deficiency Muscle weakness-intellectual disability syndrome Muscle weakness-ocular abnormalities syndrome Muscle-eye-brain disease Muscle-eye-brain disease with cerebellar cysts Muscle-eye-brain disease with cobblestone lissencephaly Muscle-type phosphofructokinase deficiency Muscular dystrophy, Duchenne type Muscular dystrophy, EmeryDreifuss type Muscular dystrophy, oculopharyngeal type Muscular dystrophy, Becker type Muscular dystrophy, limb-girdle type Muscular dystrophy-dystroglycanopathy type A Muscular dystrophy-dystroglycanopathy type B Muscular dystrophy-dystroglycanopathy type C Muscular dystrophy-dystroglycanopathy type D Muscular dystrophy-dystroglycanopathy type E Muscular dystrophy-dystroglycanopathy type F Muscular dystrophy-dystroglycanopathy type G Muscular dystrophy-dystroglycanopathy type H Muscular dystrophy-dystroglycanopathy type I Muscular dystrophy-dystroglycanopathy type J Muscular dystrophy-dystroglycanopathy type K Muscular dystrophy-dystroglycanopathy type L Muscular dystrophy-dystroglycanopathy type M Muscular dystrophy-dystroglycanopathy type N Muscular dystrophy-dystroglycanopathy type O Muscular dystrophy-dystroglycanopathy type P Muscular dystrophy-dystroglycanopathy type Q Muscular dystrophy-dystroglycanopathy type R Muscular dystrophy-dystroglycanopathy type S Muscular dystrophy-dystroglycanopathy type T Muscular dystrophy-dystroglycanopathy type U Muscular dystrophy-dystroglycanopathy type V Muscular dystrophy-dystroglycanopathy type W Muscular dystrophy-dystroglycanopathy type X Muscular dystrophy-dystroglycanopathy type Y Muscular dystrophy-dystroglycanopathy type Z Muscular hypertrophy hepatomegaly-polyhydramnios syndrome Muscular hypotonia-intellectual disability syndrome Muscular pseudohypertrophy hypothyroidism syndrome Musculoskeletal dysplasia with retinal degeneration Musculoskeletal-pulmonary insufficiency syndrome Mutase deficiency, methylmalonylCoA Myasthenia gravis, neonatal transient Myasthenia gravis with thymoma Myasthenia gravis, autoimmune Myasthenia gravis, seronegative Myasthenic syndrome due to acetylcholine receptor deficiency Myasthenic syndrome due to DOK7 deficiency Myasthenic syndrome due to MuSK deficiency Myasthenic syndrome due to rapsyn deficiency Myasthenic syndrome, congenital Myasthenic syndrome, congenital with episodic apnea Myasthenic syndrome, congenital with fast-channel defect Myasthenic syndrome, congenital with slow-channel defect MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterial cutaneous infection Mycobacterial lymphadenitis Mycobacterial osteomyelitis Mycobacterium avium complex infection Mycobacterium abscessus infection Mycobacterium kansasii infection Mycobacterium marinum infection Mycophenolate mofetil embryopathy Mycophenolate-induced colitis Mycoplasma encephalitis Mycoplasma pneumoniae infection Mycoplasma-associated encephalitis Mycosis fungoides with folliculotropism Mycosis fungoides Mycosis fungoides Mycosis fungoides and variants Mycosis fungoides, Alibert-Bazin type Mycosis fungoides, erythrodermic type Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelic limited dorsal malformation Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelitis Myelocerebellar disorder Myelocystocele Myelodysplasia-infection restriction of growth-adrenal hypoplasiagenital anomalies-enteropathy syndrome Myelodysplastic neoplasm with increased blasts Myelodysplastic neoplasm with increased blasts type 1 Myelodysplastic neoplasm with increased blasts type 2 Myelodysplastic neoplasm with low blasts Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic Syndrome Myelodysplastic/ myeloproliferative disease Myeloid hemopathy Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative Disease Myeloproliferative neoplasm Myeloschisis MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myiasis MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myocardial Fibrosis Myocardial Infarction Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy of infancy Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-rimmed vacuoles type 13 Myofibrillar myopathy-titinopathy Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopathy with rimmed ubiquitin-positive autophagic vacuolation Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency Myosclerosis Myosin storage myopathy Myositis tropicans Myospherulosis Myotilinopathy Myotonia fluctuans Myotonia permanens Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 MYRF-related cardiac urogenital syndrome MYSM1 deficiency MYT1L-associated neurodevelopmental disorder MYT1L-related developmental delay-intellectual disability-obesity syndrome Myxofibrosarcoma Myxoid leiomyosarcoma Myxoid malignant fibrous histiocytoma Myxoid neurofibroma Myxoid pleomorphic liposarcoma Myxoid solitary fibrous tumor Myxoid/round cell liposarcoma Myxoinflammatory fibroblastic sarcoma Myxoma of heart Myxoma with fibrous dysplasia Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxomatous mitral valve disease Myxomatous tumor syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1-phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency N-methyl-D-aspartate receptor encephalitis Na channel myasthenia Na-H exchanger 3 deficiency Nabais Sa-de Vries type 1 syndrome Nabais Sa-de Vries type 2 syndrome Nablus mask-like facial syndrome NAD(P)HX dehydratase deficiency NAD(P)HX epimerase deficiency Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAGA deficiency Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail anomaly Nail-patella syndrome Nail-patella-like renal disease Naito-Oyanagi disease Nakagawa angioblastoma Nakamura-Osame syndrome Nance-Horan syndrome Nanophthalmos Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Narcissistic Personality Disorder Narcolepsy Narcolepsy type 1 Narcolepsy type 2 NARP syndrome Nasal dermoid sinus cyst Nasal dorsum fistula Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NCKAP1L-associated hyperinflammatory disorder NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiosis lipoidica Necrobiotic xanthogranuloma Necrolytic acral erythema Necrolytic Migratory Erythema Necrotizing autoimmune myositis Necrotizing cellulitis Necrotizing enterocolitis Necrotizing fasciitis Necrotizing myositis Necrotizing soft tissue infection NEDMABA disorder NEK9-related lethal skeletal dysplasia Nelson syndrome Nemaline myopathy NEMO deleted exon 5 autoinflammatory syndrome Neonatal acute respiratory distress due to surfactant protein deficiency Neonatal adrenoleukodystrophy Neonatal alloimmune neutropenia Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonatal compartment syndrome Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes mellitus Neonatal encephalomyopathy cardiomyopathy-respiratory distress syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Neonatal focal intestinal perforation Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal renal venous thrombosis Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal Volkmann ischemic contracture syndrome Neonatal-onset epilepsy syndrome Neonatal-onset multisystem inflammatory disease Neonatal-onset spinal arteriovenous fistula Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Neonate - Low Apgar Score Neonate - Post Term Neoplastic hypereosinophilic syndrome Nephritis Nephroblastoma Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephronophthisis Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathy-deafness hyperparathyroidism syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic Syndrome Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nestor-Guillermo progeria syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neural tube defect Neuralgic amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency Neuroacanthocytosis Neurocutaneous melanocytosis Neurocutaneous syndrome with epilepsy Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegeneration-spasticity cerebellar atrophy-cortical visual impairment syndrome Neurodegenerative disease with chorea Neurodegenerative disease with dementia Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Neurodevelopmental delaycongenital heart defects-intellectual disability syndrome Neurodevelopmental delayhypotonia-cerebellar ataxia-cardiac conduction defects syndrome Neurodevelopmental delayhypotonia-cerebellar atrophy-cardiac conduction defects syndrome Neurodevelopmental delayintellectual disability-ataxia-feeding difficulty syndrome Neurodevelopmental delayintellectual disability-skeletal defects syndrome Neurodevelopmental delayseizures-ophthalmic anomalies-osteopeniacerebellar atrophy syndrome Neurodevelopmental disorder due to KDM2B-CxxC domain mutation Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental disorder with hearing loss and spastic quadriplegia Neurodevelopmental disorder-slitlike lateral ventricles-intellectual disability syndrome Neurodevelopmental disorderbrain malformation-facial dysmorphismbrachydactyly syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defectskeletal anomalies syndrome Neurodevelopmental disorderhypotonia-stereotypic hand movementsimpaired language Neurodevelopmental disordermicrocephaly-arthrogryposis-structural brain anomalies Neurodevelopmental disorderspasticity-movement disorder-epileptic syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroendocrine carcinoma of pancreas Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm Neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of esophagus Neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of the colon Neuroendocrine neoplasm of the small intestine Neuroendocrine Tumor Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of small bowel Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroendocrine tumor with other location Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis schwannomatosis Neurofibromatosis type 1 Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia-retinitis pigmentosa syndrome Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurological channelopathy due to genetic calcium channel defect Neurological channelopathy due to genetic chloride channel defect Neurological channelopathy due to genetic GABA receptor defect Neurological channelopathy due to genetic glycine receptor defect Neurological channelopathy due to genetic potassium channel defect Neurological channelopathy due to genetic sodium channel defect Neurological muscular channelopathy due to genetic calcium channel defect Neurological muscular channelopathy due to genetic chloride channel defect Neurological muscular channelopathy due to genetic potassium channel defect Neurological muscular channelopathy due to genetic ryanodine receptor defect Neurological muscular channelopathy due to genetic sodium channel defect Neurolymphomatosis Neurometabolic disease Neurometabolic disorder due to serine deficiency Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 1 Neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis type 11 Neuronal ceroid lipofuscinosis type 12 Neuronal ceroid lipofuscinosis type 13 Neuronal ceroid lipofuscinosis type 14 Neuronal ceroid lipofuscinosis type 2 Neuronal ceroid lipofuscinosis type 3 Neuronal ceroid lipofuscinosis type 4 Neuronal ceroid lipofuscinosis type 5 Neuronal ceroid lipofuscinosis type 6 Neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis type 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuronal tumor Neurooculocardiogenitourinary syndrome Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neuroretinitis Neurosensory deafness with dilated cardiomyopathy Neurotrophic keratitis Neurovascular malformation Neutral lipid storage disease Neutral lipid storage disease type M Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with severe cardiovascular involvement Neutropenia-monocytopenia deafness syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevoid basal cell carcinoma syndrome Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn Nevus sebaceus syndrome New-onset refractory status epilepticus Nezelof syndrome NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome NFAT5 haploinsufficiency NFKB1-related immune dysregulation NFU1 deficiency NGLY1 deficiency NHEJ1 deficiency Nicolaides-Baraitser syndrome Nicolau syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nipah encephalitis Nipah virus disease NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK/T-cell lymphoma NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease NMDA receptor encephalitis Nodal marginal zone B-cell lymphoma Nodal T-cell lymphoma with TFH phenotype Nodal T-follicular helper cell lymphoma, follicular type Nodal TFH lymphoma, follicular type Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular urticaria pigmentosa Noma NOMID syndrome Non-24-hour sleep-wake syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-alcoholic Fatty Liver Disease Non-amyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency Non-deforming osteogenesis imperfecta Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-dystrophic myopathy Non-epithelial cancer of ovary Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-fibrotic hypersensitivity pneumonitis Non-fluent variant primary progressive aphasia Non-functioning pancreatic neuroendocrine tumor Non-functioning paraganglioma Non-functioning pituitary adenoma Non-functioning welldifferentiated pancreatic neuroendocrine neoplasm Non-genetic central precocious puberty in male Non-hereditary degenerative ataxia Non-hereditary retinoblastoma Non-HFE-related hemochromatosis Non-histaminic angioedema Non-Hodgkin lymphoma Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-immune hydrops fetalis Non-infectious anterior uveitis Non-inflammatory peeling skin syndrome type A Non-inflammatory vasculopathy Non-insulinoma pancreatogenous hypoglycemia syndrome Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Langerhans cell histiocytosis Non-malignant non-cirrhotic portal vein thrombosis Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-paraneoplastic sensory ganglionopathy Non-paraneoplastic sensory neuronopathy Non-phenylketonuric non-BH4deficiency hyperphenylalaninemia Non-pneumonic Legionnaires disease Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive epilepsy and-or ataxia with myoclonus as a major feature Non-recovering obstetric brachial plexus lesion Non-rhizomelic chondrodysplasia punctata Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-severe combined immunodeficiency Non-specific autoimmune cerebellar ataxia Non-specific early-onset epileptic encephalopathy Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-specific syndromic intellectual disability Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic agammaglobulinemia Non-syndromic amelia Non-syndromic anal stenosis Non-syndromic anorectal malformation Non-syndromic anterior synostotic plagiocephaly Non-syndromic biliary atresia Non-syndromic brain malformation Non-syndromic central nervous system malformation Non-syndromic cloacal malformation Non-syndromic congenital bronchial anomaly Non-syndromic congenital bronchial atresia Non-syndromic congenital phagocyte functional defect Non-syndromic congenital sodium diarrhea Non-syndromic constitutional thrombocytopenia Non-syndromic craniosynostosis Non-syndromic dentinogenesis imperfecta Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation Non-syndromic esophageal malformation Non-syndromic gastrointestinal malformation Non-syndromic genetic hearing loss (DFNA/DFNB/DFNX) Non-syndromic heritable thoracic aortic disease Non-syndromic hypogammaglobulinemia Non-syndromic intercalary limb defect Non-syndromic intestinal malformation Non-syndromic joint formation defect Non-syndromic lambdoid craniosynostosis Non-syndromic limb hypoplasia Non-syndromic limb overgrowth Non-syndromic limb reduction defect Non-syndromic longitudinal limb defect Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic multiple suture synostosis Non-syndromic polydactyly Non-syndromic pontocerebellar hypoplasia Non-syndromic postaxial polydactyly Non-syndromic posterior hypospadias Non-syndromic preaxial polydactyly Non-syndromic renal tract malformation Non-syndromic reticular dysgenesis Non-syndromic retinal nonattachment Non-syndromic sagittal craniosynostosis Non-syndromic single suture synostosis Non-syndromic syndactyly Non-syndromic terminal transverse limb defect Non-syndromic thrombocytopenia Non-syndromic unicoronal craniosynostosis Non-syndromic urogenital tract malformation Non-syndromic uterovaginal malformation Non-syndromic vestibular fistula Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Non-terminal myelocystocele Non-transfusion dependent betathalassemia Non-transplant-related bronchiolitis obliterans Non-tuberculous mycobacterial extrapulmonary disease Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonmosaic Legius syndrome Nonmosaic neurofibromatosis type 1 Nonmosaic neurofibromatosis type 2-related schwannomatosis Nonmosaic schwannomatosis Nonne-Milroy lymphedema Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Norman-Landing disease Normomorphic sialidosis Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma NR1H4 deficiency NR4A2-related neurodevelopmental syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleepwake cycle disturbance NSD2-related syndrome NTHL1-related adenomatous polyposis NTHL1-related polyposis Nuclear factor kappa B subunit 1related immune dysregulation Nude/severe combined immunodeficiency Null cell pituitary adenoma Null pituitary adenoma Null syndrome NUT midline carcinoma O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia OAV spectrum Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to prohormone convertase I deficiency Obesity due to proopiomelanocortin deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidism cardiac hypertrophy-developmental delay syndrome Oblique facial cleft Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obsessive-Compulsive Disorder (OCD) Obstructed hemivagina and ipsilateral renal anomaly Obstructive Uropathy Occipital atretic cephalocele unusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Occult spina bifida Ochoa syndrome Ocular albinism Ocular albinism Nettleship-Falls type Ocular albinism type 1 Ocular albinism with late-onset sensorineural hearing loss Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cicatricial pemphigoid Ocular cystinosis Ocular motor apraxia, Cogan type Ocular siderosis Ocular surface squamous neoplasia Ocular-scoliotic Ehlers-Danlos syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital dysplasia Oculo-digito-esophageal-duodenal syndrome Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculoauricular syndrome Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocutaneous Albinism Oculocutaneous albinism Amish type Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type 8 Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd type Oculodentodigital syndrome Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculogastrointestinal neurodevelopmental syndrome Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia Oculoosteocutaneous syndrome Oculootodental syndrome Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculoskeletodental syndrome Oculotrichoanal syndrome Oculotrichodysplasia Odonto-onycho dysplasia alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digitopalmar syndrome Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome OEIS complex Oesophageal atresia Oesophageal Diverticuli Oesophageal Obstruction Oesophagitis Ofuji disease Ogden syndrome Oguchi disease Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohtahara syndrome Okamoto syndrome Okihiro syndrome Okur-Chung neurodevelopmental syndrome Olfactory neuroblastoma Oligoastrocytoma Oligocone trichromacy Oligodendroglioma Oligodontia Oligomeganephronia Oligophrenin-1 syndrome Oligosaccharidosis Oliver-McFarlane syndrome Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome Omenn syndrome Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophy imperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalomesenteric cyst Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine-Hirschsprung syndrome Onycho-digito-mammary syndrome Onychocytic matricoma Onychomatricoma Onychoosteodysplasia Oophoritis Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD spectrum disorder Open iniencephaly Open spina bifida Open spinal dysraphism Open spinal dysraphism with a myelomeningocele Open spinal dysraphism with a posterior meningocele Open split-cord malformation Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotonia ataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz BBB/G syndrome Opitz C trigonocephaly syndrome Opitz-Kaveggia syndrome Oppenheim dystonia Oppenheim-Urbach disease Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxia simultanagnosia syndrome Optic atrophy plus syndrome (Behr syndrome) Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-deafness polyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic disc pit Optic nerve edema-splenomegaly syndrome Optic pathway glioma Oral dysesthesia Oral submucous fibrosis Oral-facial-digital syndrome Oral-facial-digital syndrome Edwards type Oral-facial-digital syndrome Gabrielli type Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with short stature and brachymesophalangy Orbital Apex Syndrome Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Orbitofacial cleft Organoid nevus syndrome Orgasm-induced epilepsy Ormond disease Ornithine aminotransferase deficiency Ornithine carrier deficiency Ornithine decarboxylase deficiency Ornithosis Oroacral syndrome Orocraniodigital syndrome Orodynia Orofacial clefting syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Oromandibular dystonia Oromandibular-limb anomalies syndrome Oromandibular-limb hypogenesis syndrome Oropharyngeal teratoma Orotidylic decarboxylase deficiency Orthostatic intolerance due to NET deficiency Osebold-Remondini syndrome Osgood-Schlatter disease Osseous Ewing sarcoma Osseous-oculo-dental dysplasia Ossification anomalies psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoarthritis Osteoblastoma Osteochondritis dissecans and short stature Osteochondromuscular dystrophy Osteochondrosis of genetic origin Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta (Brittle bone disease) Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglophonic dwarfism Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelofibrosis Osteonecrosis Osteonecrosis Osteonecrosis of genetic origin Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia Osteopenia-intellectual disability sparse hair syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteopoikilosis Osteopoikilosis-short stature intellectual disability syndrome Osteoporosis Osteoporosis of pregnancy Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoradionecrosis of the mandible Osteosarcoma Osteosarcoma-limb anomalies erythroid macrocytosis syndrome Osteosclerosis Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis premature ovarian failure syndrome Osteosclerotic bone dysplasia Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome Otitis Externa Otitis Media Otodental dysplasia Otofaciocervical syndrome Otofaciocervical syndrome type 2 Otofaciocervical syndrome with thymic hypoplasia Otofaciocervical syndrome without thymic hypoplasia Otomandibular dysplasia Otoonychoperoneal syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian dysgerminoma Ovarian epithelial cancer Ovarian fibroma Ovarian fibrothecoma Ovarian germ cell cancer Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant epithelial tumor Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Mullerian tumor Ovarian malignant non-epithelial tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarioleukodystrophy Overgrowth obesity syndrome Overgrowth or tall stature syndrome with skeletal involvement Overgrowth syndrome Overgrowth syndrome with 2q37 translocation Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Overlap syndromes of autoimmune liver diseases Overlapping connective tissue disease Owren disease OXCT1 deficiency Oxoglutaric aciduria Oxoprolinuria due to oxoprolinase deficiency OXPHOS disease OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease with no known mechanism Oxysterol 7-alpha-hydroxylase deficiency Pancreatic Cysts Pancreatic Duct Obstruction Pancreatic Hyperplasia Pancreatic Neuroendocrine Tumour Pancreatitis Pancreatitis - Bacterial Parkinsonism Patent Ductus Arteriosus PCT - Type I Sporadic PCT - Type II Familial PCT - Type III PCT - Type IV Hepatoerythropoietic Porphyria PCT - Type V Toxic Porphyria Pellagra Pelvic Inflammatory Disease Peptic Ulcer Disease Pericardial Constriction Pericardial Effusion Pericarditis Peripheral Vascular Disease Peritoneal Mesothelial Tumour Peritonitis Pernicious Anaemia Perthes Disease Pfeiffer Syndrome Phaeochromocytoma Pituitary Tumour Pleural Aspergillosis Pleural Mesothelial Tumour Pleurisy Pleuritis Pneumonia Pneumonia - Aspiration Pneumonia - Bacterial Pneumonia - Haemorrhagic Pneumonia - Tuberculous Pneumonitis Pneumothorax Polyarteritis Nodosa Polycystic Ovary Syndrome Polymicrogyria Polymyalgia Rheumatica Polymyositis Polyneuritis Portal Hypertension Pott's Disease of the Spine Prader-Willi Syndrome Pre-Eclampsia Pregnancy - Cytomegalovirus Infection Premature Delivery Primary Acquired Sideroblastic Anaemia Primary Biliary Cirrhosis Primary hyperlipoproteinemia type III (Broad-beta disease) Primary Hypothyroidism Primary Small Intestinal Lymphoma - PSIL Progressive external ophthalmoplegia with riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome) Prolactinoma Prostatitis Protein Losing Enteropathy Pseudo-Obstruction Pseudomembranous Candidiasis Pseudotumour Cerebri Psoriasis Psoriatic arthropathy Pulmonary Artery Agenesis Pulmonary Artery Stenosis Pulmonary Disease - Obstructive Pulmonary Disease - Restrictive Pulmonary Embolus(i) Pulmonary Fibrosis Pulmonary Hypertension Pulmonary Interstitial Disease Pulmonary Oedema - Acute Pulmonary Regurgitation Pulmonary Valve Stenosis Pulmonary Vascular Thrombosis Purpura Fulminans Pyelonephritis Pyoarthrosis Radiculitis Radiculopathy RAEB in Transformation (RAEBIT) Ramsay Hunt Syndrome Refractory Anaemia Refractory Anaemia - Excess Blasts (RAEB) Refractory Anaemia - Ring Sideroblasts (RARS) Reiter's Syndrome Renal Abscess(es) Renal Agenesis Renal Artery Stenosis Renal Carcinoma Renal Cysts Renal Disease Renal Disease Renal Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Rickets Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Scapuloperoneal muscular dystrophy Scapuloperoneal myopathy, neurogenic type Scapuloperoneal spinal muscular atrophy Scapulothoracic dysostosis SCARF syndrome Scarring alopecia-short stature-craniofacial dysmorphism syndrome Schilder disease Schimke immuno-osseous dysplasia Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel phocomelia syndrome Schinzel syndrome Schinzel-Giedion syndrome Schizophrenia Schizophrenia Schmidt syndrome Schneckenbecken dysplasia Schnitzler syndrome Schoenlein-Henoch purpura Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Scleritis Scleroderma Scleroderma, diffuse cutaneous Scleroderma, limited cutaneous Scleromyxedema Sclerosing Cholangitis Sclerosing cholangitis, primary Sclerosing mesenteritis Sclerosing osteomyelitis Sclerosing peritonitis Sclerosing skin disorders, inherited Sclerosteosis Sclerotherapy-related complications Sclerotic fibroma SCN1A-related epileptic encephalopathy SCN2A-related epileptic encephalopathy SCN8A-related epileptic encephalopathy SCN9A-related congenital insensitivity to pain Scofield syndrome SCOT deficiency Scrotal calcinosis Scrotal elephantiasis Scrotal lymphedema Scrotal melanoma Scrotal squamous cell carcinoma Sea-blue histiocyte syndrome Sebaceous carcinoma Sebaceous hyperplasia, familial Sebaceous nevus of Jadassohn syndrome Seborrheic dermatitis Seckel syndrome Secondary Acquired Sideroblastic Anaemia Secondary hemophagocytic lymphohistiocytosis Secondary hyperoxaluria Secondary lymphedema Secondary myelofibrosis Secondary pulmonary hypertension Secondary sclerosing cholangitis Secondary Sjogren syndrome Secondary syphilis Secretory carcinoma of the breast Segawa syndrome Segmental neurofibromatosis Seip-Berardinelli congenital lipodystrophy Seizures, benign familial infantile Seizures, benign familial neonatal Seizures, benign familial neonatal-infantile Seizures, familial focal with variable foci Seizures, genetic epilepsy with febrile seizures plus Seizures, neonatal severe Seizures, progressive myoclonic epilepsy Seizures, reflex epilepsy Seizures, symptomatic focal epilepsy Selenoprotein deficiency disorder Selenoprotein N-related myopathy Self-healing collodion baby Self-healing squamous epithelioma SEMDCJL1-related skeletal dysplasia Semicircular canal dehiscence syndrome Seminoma Senear-Usher syndrome Sensory ataxic neuropathy Sensory neuropathy, hereditary Sensory processing disorder Septic arthritis Septic shock Septic Shock Septicaemia Septicaemia - Gram negative Septicemia Septo-optic dysplasia Septo-optic dysplasia spectrum Septo-optic pituitary dysplasia Serine biosynthesis defect Serine deficiency disorders Serotonin syndrome Serous cystadenoma of pancreas Serpiginous choroiditis Sertoli cell tumor Sertoli-Leydig cell tumor Serum amyloid A amyloidosis SeSAME syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Severe Combined Degeneration Severe combined immunodeficiency, T-B+ phenotype Severe combined immunodeficiency, T-B+NK+ phenotype Severe combined immunodeficiency, T-B+NK- phenotype Severe combined immunodeficiency, T-B- phenotype Severe combined immunodeficiency, T-B-NK+ phenotype Severe combined immunodeficiency, T-B-NK- phenotype Severe congenital neutropenia Severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to HAX1 deficiency Severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to VPS45 deficiency Severe cutaneous adverse drug reaction Severe developmental delay-epilepsy-short stature-deep set eyes syndrome Severe early-childhood-onset retinal dystrophy Severe fever with thrombocytopenia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome Severe megalencephaly-cortical malformation-capillary malformation syndrome Severe myoclonic epilepsy in infancy Severe neonatal episodic laryngospasm Severe neonatal-onset encephalopathy with microcephaly Severe persistent hyperinsulinemic hypoglycemia of infancy Severe skeletal dysplasia-intellectual disability-progeroid features syndrome Severe thrombocytopenia with Philadelphia chromosome-positive chronic myeloid leukemia Severe X-linked intellectual disability, Gustavson type Sezary Syndrome Shapiro syndrome Sharp syndrome Shashi-Pena syndrome Sheehan syndrome Sheldon-Hall syndrome Shiga toxin-associated hemolytic uremic syndrome Shigellosis Shin splints syndrome Shinzel-Giedion midface retraction syndrome Short QT syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short stature due to growth hormone deficiency Short stature with microcephaly and distinctive facies Short stature with pigmentary skin changes and skeletal anomalies Short stature with precocious puberty and dysmorphic features Short stature with speech delay and facial dysmorphism Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-facial dysmorphism-skeletal anomalies syndrome Short stature-hyperextensible joints-hernia-ocular depression-Rieger anomaly syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic nerve atrophy-Pelger-Huet anomaly syndrome Short stature-renal disease syndrome Short stature-skeletal anomalies-intellectual disability syndrome Short stature-slow hair growth-intellectual disability syndrome Short stature-valvular heart disease-characteristic facies syndrome Shoulder girdle myopathy Shprintzen syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg syndrome Sialadenitis, chronic recurrent Sialidosis Sialidosis type 1 Sialidosis type 2 Sicca syndrome Sickle cell disease with crisis Sickle cell-beta thalassemia Sideroblastic anemia Sideroblastic anemia, X-linked Siderosis, pulmonary SIDS Siegel syndrome Siemens syndrome Sifrim-Hitz-Weiss syndrome SIL1-related Marinesco-Sjögren syndrome Silver-Russell syndrome Simpson - Golabi - Behmel Syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinus histiocytosis with massive lymphadenopathy Sinus node dysfunction Sinus pericranii Sirenomelia SIRS Sjogren's Syndrome Sjögren syndrome with extraglandular involvement Sjögren syndrome with glandular involvement Sjögren syndrome, primary Sjögren syndrome, secondary Sjögren-Larsson syndrome Skeletal dysplasia with brachydactyly and joint laxity Skeletal dysplasia with microcephaly and intellectual disability Skeletal dysplasia-intellectual disability syndrome Skeletal muscle calcium channelopathy Skeletal muscle channelopathy Skeletal muscle chloride channelopathy Skeletal muscle potassium channelopathy Skeletal muscle ryanodine receptor channelopathy Skeletal muscle sodium channelopathy Skin - Squamous Cell Carcinoma Skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin peeling syndrome Skin peeling syndrome, acral type Skin peeling syndrome, generalized inflammatory type Skin peeling syndrome, generalized non-inflammatory type Skin peeling syndrome, localized type Skull base chordoma Skull dysplasia, familial Sleep Deprivation Slipped capital femoral epiphysis Slow channel congenital myasthenic syndrome Slow transit constipation SMARD1 Smith syndrome Smith-Magenis syndrome SMN1-related spinal muscular atrophy Smouldering multiple myeloma Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOFT syndrome Sotos syndrome type 2 Sotos syndrome type 3 Sotos-like syndrome Sowden syndrome Sparing syndrome Spastic ataxia Spastic paraplegia type 1 Spastic paraplegia type 10 Spastic paraplegia type 11 Spastic paraplegia type 12 Spastic paraplegia type 13 Spastic paraplegia type 14 Spastic paraplegia type 15 Spastic paraplegia type 16 Spastic paraplegia type 17 Spastic paraplegia type 18 Spastic paraplegia type 19 Spastic paraplegia type 2 Spastic paraplegia type 20 Spastic paraplegia type 21 Spastic paraplegia type 22 Spastic paraplegia type 23 Spastic paraplegia type 24 Spastic paraplegia type 25 Spastic paraplegia type 26 Spastic paraplegia type 27 Spastic paraplegia type 28 Spastic paraplegia type 29 Spastic paraplegia type 3 Spastic paraplegia type 30 Spastic paraplegia type 31 Spastic paraplegia type 32 Spastic paraplegia type 33 Spastic paraplegia type 34 Spastic paraplegia type 35 Spastic paraplegia type 36 Spastic paraplegia type 37 Spastic paraplegia type 38 Spastic paraplegia type 39 Spastic paraplegia type 4 Spastic paraplegia type 40 Spastic paraplegia type 41 Spastic paraplegia type 42 Spastic paraplegia type 43 Spastic paraplegia type 44 Spastic paraplegia type 45 Spastic paraplegia type 46 Spastic paraplegia type 47 Spastic paraplegia type 48 Spastic paraplegia type 49 Spastic paraplegia type 5 Spastic paraplegia type 50 Spastic paraplegia type 51 Spastic paraplegia type 52 Spastic paraplegia type 53 Spastic paraplegia type 54 Spastic paraplegia type 55 Spastic paraplegia type 56 Spastic paraplegia type 57 Spastic paraplegia type 58 Spastic paraplegia type 59 Spastic paraplegia type 6 Spastic paraplegia type 60 Spastic paraplegia type 61 Spastic paraplegia type 62 Spastic paraplegia type 63 Spastic paraplegia type 64 Spastic paraplegia type 65 Spastic paraplegia type 66 Spastic paraplegia type 67 Spastic paraplegia type 68 Spastic paraplegia type 69 Spastic paraplegia type 7 Spastic paraplegia type 70 Spastic paraplegia type 71 Spastic paraplegia type 72 Spastic paraplegia type 73 Spastic paraplegia type 74 Spastic paraplegia type 75 Spastic paraplegia type 76 Spastic paraplegia type 77 Spastic paraplegia type 78 Spastic paraplegia type 79 Spastic paraplegia type 8 Spastic paraplegia type 80 Spastic paraplegia type 81 Spastic paraplegia type 82 Spastic paraplegia type 83 Spastic paraplegia type 84 Spastic paraplegia type 85 Spastic paraplegia type 86 Spastic paraplegia type 87 Spastic paraplegia type 88 Spastic paraplegia type 89 Spastic paraplegia type 9 Spastic tetraplegia Spasticity with white matter abnormalities Spasticity, hereditary Spasticity-ataxia syndrome Spasticity-intellectual disability-seizures syndrome Spasticity-paraplegia-neuropathy syndrome Speckled lentiginous nevus syndrome Speech delay-intellectual disability syndrome Speech sound disorder Spherocytosis, hereditary Spherophakia Sphingolipidosis Sphingomyelin lipidosis Sphingomyelinase deficiency Spina bifida Spina bifida occulta Spinal and bulbar muscular atrophy Spinal arteriovenous malformation Spinal cord astrocytoma Spinal cord compression Spinal Cord Compression Spinal cord ependymoma Spinal cord injury Spinal cord ischemia Spinal cord malformation Spinal cord tumor Spinal dysraphism Spinal Epidural Abscess Spinal epidural lipomatosis Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, congenital with arthrogryposis Spinal muscular atrophy, distal Spinal muscular atrophy, distal hereditary motor neuropathy type Spinal muscular atrophy, juvenile Spinal muscular atrophy, non-5q type Spinal muscular atrophy, type 0 Spinal muscular atrophy, type 1 Spinal muscular atrophy, type 2 Spinal muscular atrophy, type 3 Spinal muscular atrophy, type 4 Spinal muscular atrophy, X-linked Spinal neurofibromatosis Spinal osteochondroma Spinal osteosarcoma Spinal paraganglioma Spinal schwannoma Spinal stenosis Spinal subdural hematoma Spinal subependymoma Spinal teratoma Spinal tuberculosis Spinal vascular malformation Spinal vascular tumor Spinalis muscle myopathy Spindle cell carcinoma Spindle cell hemangioma Spindle cell lipoma Spindle cell melanoma Spindle cell oncocytoma of the pituitary gland Spindle cell sarcoma Spine Abscess Spinocerebellar Ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 24 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27A Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 33 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 39 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 44 Spinocerebellar ataxia type 45 Spinocerebellar ataxia type 46 Spinocerebellar ataxia type 47 Spinocerebellar ataxia type 48 Spinocerebellar ataxia type 49 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 50 Spinocerebellar ataxia type 51 Spinocerebellar ataxia type 52 Spinocerebellar ataxia type 53 Spinocerebellar ataxia type 54 Spinocerebellar ataxia type 55 Spinocerebellar ataxia type 56 Spinocerebellar ataxia type 57 Spinocerebellar ataxia type 58 Spinocerebellar ataxia type 59 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 60 Spinocerebellar ataxia type 61 Spinocerebellar ataxia type 62 Spinocerebellar ataxia type 63 Spinocerebellar ataxia type 64 Spinocerebellar ataxia type 65 Spinocerebellar ataxia type 66 Spinocerebellar ataxia type 67 Spinocerebellar ataxia type 68 Spinocerebellar ataxia type 69 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 70 Spinocerebellar ataxia type 71 Spinocerebellar ataxia type 72 Spinocerebellar ataxia type 73 Spinocerebellar ataxia type 74 Spinocerebellar ataxia type 75 Spinocerebellar ataxia type 76 Spinocerebellar ataxia type 77 Spinocerebellar ataxia type 78 Spinocerebellar ataxia type 79 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 80 Spinocerebellar ataxia type 81 Spinocerebellar ataxia type 82 Spinocerebellar ataxia type 83 Spinocerebellar ataxia type 84 Spinocerebellar ataxia type 85 Spinocerebellar ataxia type 86 Spinocerebellar ataxia type 87 Spinocerebellar ataxia type 88 Spinocerebellar ataxia type 89 Spinocerebellar ataxia type 9 Spinocerebellar ataxia type 90 Spinocerebellar ataxia type 91 Spinocerebellar ataxia type 92 Spinocerebellar ataxia type 93 Spinocerebellar ataxia type 94 Spinocerebellar ataxia type 95 Spinocerebellar ataxia type 96 Spinocerebellar ataxia type 97 Spinocerebellar degeneration with peripheral neuropathy Spinocerebellar degeneration, autosomal dominant Spinocerebellar degeneration, autosomal recessive Spinocerebellar syndrome with epilepsy Spinocerebellar syndrome with pyramidal signs Spinocerebellar syndrome with retinal degeneration Spinocerebellar syndrome with sensorineural hearing loss Spinocerebellar syndrome with spasticity Spitz nevus Splenic abscess Splenic artery aneurysm Splenic cyst Splenic marginal zone lymphoma Splenic Rupture Splenic sequestration crisis Splenic vein thrombosis Splenomegaly with cytopenia syndrome Splenomegaly, hereditary Split hand/foot malformation Split hand/foot malformation type 1 Split hand/foot malformation type 2 Split hand/foot malformation type 3 Split hand/foot malformation type 4 Split hand/foot malformation type 5 Split hand/foot malformation type 6 Split hand/foot malformation type 7 Split hand/foot malformation type 8 Split hand/foot malformation with long bone deficiency Split hand/foot malformation with tibial aplasia Split notochord syndrome Splitting of the spinal cord Spondyloarthritis Spondyloarthritis associated with inflammatory bowel disease Spondyloarthritis, undifferentiated Spondyloarthropathy Spondyloarthropathy, axial Spondyloarthropathy, peripheral Spondylocostal dysostosis Spondylocostal dysostosis type 1 Spondylocostal dysostosis type 10 Spondylocostal dysostosis type 11 Spondylocostal dysostosis type 12 Spondylocostal dysostosis type 13 Spondylocostal dysostosis type 14 Spondylocostal dysostosis type 15 Spondylocostal dysostosis type 16 Spondylocostal dysostosis type 17 Spondylocostal dysostosis type 18 Spondylocostal dysostosis type 19 Spondylocostal dysostosis type 2 Spondylocostal dysostosis type 20 Spondylocostal dysostosis type 3 Spondylocostal dysostosis type 4 Spondylocostal dysostosis type 5 Spondylocostal dysostosis type 6 Spondylocostal dysostosis type 7 Spondylocostal dysostosis type 8 Spondylocostal dysostosis type 9 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, tarda X-linked Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia with cone-rod dystrophy Spondylometaphyseal dysplasia with dentinogenesis imperfecta Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, axial type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, filamin A type Spondylometaphyseal dysplasia, handigodu type Spondylometaphyseal dysplasia, Japanese type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, plasmalemma vesicle-associated protein type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, short limb type Spondylometaphyseal dysplasia, short limb-abnormal calcification type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, with corneal dystrophy Spondylometaphyseal dysplasia, with dentinogenesis imperfecta Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-corneal dystrophy syndrome Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondylothoracic dysostosis Spondylothoracic dysostosis, autosomal recessive Spongiform leukoencephalopathy with chronic euphoria Spontaneous Abortion Spontaneous coronary artery dissection Spontaneous intracranial hypotension Spontaneous periodic hypothermia Spontaneous pneumothorax Spontaneous splenic rupture Spotted fever rickettsiosis Sprengel deformity Sprinz-Nelson syndrome SPTLC1-related hereditary sensory and autonomic neuropathy SQUAMOS syndrome Squamous cell carcinoma of the conjunctiva Squamous cell carcinoma of the eyelid Squamous cell carcinoma of the lip Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the skin Squamous odontogenic tumor SRD5A3-congenital disorder of glycosylation SRSF2-related myelodysplastic syndrome SSADH deficiency SSPE Staphylococcal scalded skin syndrome Stargardt disease Stargardt disease type 1 Stargardt disease type 3 Starvation ketoacidosis Static encephalopathy Steatocystoma multiplex Steele-Richardson-Olszewski syndrome Steinert disease Stenosis of aqueduct of Sylvius Stenotrophomonas maltophilia infection Stensen duct obstruction Sterility - Female Sterility - Male Steroid-resistant nephrotic syndrome Steroid-sensitive nephrotic syndrome Stevens Johnson Syndrome Stevens-Johnson syndrome Stewart-Treves syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stiff skin syndrome Still disease, adult-onset Stomatin-deficient cryohydrocytosis Stomatocytosis, dehydrated hereditary Stomatocytosis, overhydrated hereditary Stormorken syndrome Stromme syndrome Sturge-Weber syndrome Stuve-Wiedemann syndrome Subacute Combined Degeneration of Cord Subacute sclerosing panencephalitis Subacute Sclerosing Panencephalitis - SSPE Subaortic stenosis, discrete Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical laminar heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal heterotopia Subependymal nodular heterotopia Subependymal nodules Subependymoma Subungual exostosis Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital Sudanophilic leukodystrophy Sudden infant death syndrome Sudden unexplained death in epilepsy Sudden unexplained nocturnal death syndrome Sulfite oxidase deficiency Sulfite Oxidase Deficiency Sulfite oxidase deficiency, isolated Sulfoglucuronosyl paragloboside ceramide lipidosis Sulfur amino acid metabolism disorder Superior mesenteric artery syndrome Superior Vena Caval Obstruction Supranuclear gaze palsy Supratentorial primitive neuroectodermal tumor Surfactant metabolism dysfunction, pulmonary Surfactant protein B deficiency Surfactant protein C deficiency Surfactant protein deficiency, congenital Susac syndrome Sweet syndrome Swyer syndrome Swyer-James-MacLeod syndrome Sydenham chorea Sydenham's Chorea Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal Symphalangism, proximal Synapsin-related neurodevelopmental disorder Syncope, catecholaminergic polymorphic ventricular tachycardia-related Syndromic craniosynostosis Syndromic deafness Syndromic intellectual disability Syndromic microphthalmia Syndromic obesity Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic outer canthal malposition Syndromic palpebral coloboma Syndromic recessive X-linked ichthyosis Syndromic renal or urinary tract malformation Syndromic respiratory or mediastinal malformation Syndromic retinal dystrophy Syndromic rod-cone dystrophy Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic telecanthus Syndromic urogenital tract malformation Syndromic uterovaginal malformation Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Syndromic vitreoretinopathy Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related arthrogryposis multiplex congenita SYNGAP1-related developmental and epileptic encephalopathy Syngnathia-cleft palate syndrome Syngnathia-multiple anomalies syndrome Synovial chondromatosis Synovial sarcoma Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synspondylism Syntelencephaly Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic autoimmune disease Systemic autoinflammatory disease due to NEMO exon 5 deletion Systemic candidiasis Systemic capillary leak syndrome Systemic disease with glomerulopathy as a major feature Systemic disease with skin involvement Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic karyomegaly Systemic Lupus Erythematosus Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic polyarteritis nodosa Systemic primary carnitine deficiency Systemic sarcoidosis (Boeck) Systemic Sclerosis Systemic sclerosis Systemic sclerosis sine scleroderma Systemic vasculitis associated with glomerulopathy T-cell acute lymphoblastic leukemia T-cell large granular lymphocyte leukemia T-cell non-Hodgkin lymphoma T-cell prolymphocytic leukemia Takotsubo cardiomyopathy Takotsubo cardiomyopathy (stress-induced cardiomyopathy) Talaromycosis (Talaromyces marneffei infection) TANGO2-related metabolic encephalopathy-arrhythmia syndrome TAR syndrome (thrombocytopenia-absent radius syndrome) TARP syndrome Tarui disease (glycogen storage disease type VII) Tatton-Brown-Rahman overgrowth syndrome Taussig-Bing syndrome TBCD TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome TCA cycle disorder TCF12-related syndromic craniosynostosis TCR-alpha-beta-positive T-cell deficiency TDO syndrome Teebi hypertelorism syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric fluid collections-intrapulmonary shunting syndrome Telangiectatic capillary malformation Telecanthus-hypertelorism-strabismus-pes cavus syndrome Telethonin-related limb-girdle muscular dystrophy R7 Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 13q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 5q Telomeric deletion 9p Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 1p36 Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric monosomy 3p Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temple-Baraitser syndrome Temporal arteritis (giant cell arteritis) Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal extramedullary conus spinal cord lipoma Terminal myelocystocele Terminal osseous dysplasia-pigmentary defects syndrome Terrien marginal degeneration Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessier number 7 facial cleft Testicular agenesis Testicular Dysgenesis Testicular germ cell tumor Testicular regression syndrome Testicular seminoma Testicular sex cord-stromal tumor TET3-related Beck-Fahrner syndrome Tetra X Tetraamelia-multiple malformations syndrome Tetragametic chimerism syndrome Tetrahydrobiopterin-responsive phenylketonuria Tetrahydrobiopterin-unresponsive phenylketonuria Tetramelic monodactyly Tetrasomy 11q24.1 Tetrasomy 15q26 Tetrasomy 18p syndrome Tetrasomy 21 syndrome Tetrasomy 5p syndrome Tetrasomy 9p syndrome Tetrasomy X syndrome Teunissen-Cremers syndrome TFE3-related neurodevelopmental disorder TFR2-related hemochromatosis TFRC-related combined immunodeficiency Thakker-Donnai syndrome Thalassaemia Intermedia Thalassaemia Major Thalassaemia Trait Thalidomide embryopathy Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia-cloverleaf skull syndrome Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder Theca steroid-producing cell tumor of ovary Theodore superior limbic keratoconjunctivitis Therapy-related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thickened earlobes-conductive hearing loss syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bones-dysmorphism syndrome Thinking epilepsy Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic malformation Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-fever renal insufficiency-organomegaly syndrome Thromboembolism Thrombomodulin-related bleeding disorder Thrombotic microangiopathy Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Thumb deformity-alopecia pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Thurston syndrome Thygeson superficial punctate keratitis Thymic carcinoma Thymic epithelial tumor Thymic neuroendocrine tumor Thymic Neuroendocrine Tumour Thymoma hypogammaglobulinemia syndrome Thyrocerebrorenal syndrome Thyroid Carcinoma Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid-renal-digital anomalies Thyroiditis Thyrotoxic periodic paralysis Thyrotoxicosis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial muscular dystrophy Tibiofibular diaphyseal toxopachyosteosis Tick-borne encephalitis Tietz syndrome Timothy syndrome Timothy syndrome type 1 Timothy syndrome type 2 TINU syndrome Titin-related limb-girdle muscular dystrophy R10 TJP2 deficit TKT deficiency TLK2-related neurodevelopmental disorder TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome TM2D3-related neurodevelopmental disorder TMEM147-related neurodevelopmental disorder TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Torpedo maculopathy Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tortuosity of retinal arteries Total color blindness Total early-onset cataract Touraine-Solente-Gole syndrome Townes syndrome Toxic dermatosis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic or drug-related embryofetopathy Toxic pustuloderma Toxin-mediated infectious botulism Toxocariasis Toxoplasma embryofetopathy TPHA TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay Traboulsi syndrome Tracheal agenesis Tracheal anomaly Tracheal atresia Tracheal Obstruction Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica TRAF7-associated heart defect-digital anomalies-facial dysmorphism syndrome Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient antenatal Bartter syndrome Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal TSH receptor-blocking antibodies Transient congenital hypothyroidism due to neonatal hyperthyrotropinemia Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient Ischaemic Attacks Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient predisposition to invasive pyogenic bacterial infection Transient pseudohypoaldosteronism Transient reactive papulotranslucent acrokeratoderma Transient tyrosinemia of the newborn Transition renal cell carcinoma Transitional atrioventricular canal defect Transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract Transitional PMD Transketolase deficiency Translocation renal cell carcinoma Transplacentally acquired neonatal autoimmune disease Transplant-related bronchiolitis obliterans Transposition of the great arteries Transposition of the great arteries and conotruncal heart defects Transverse facial cleft Transverse Myelitis Transverse vaginal septum TRAP sequence TRAPPC11-related limb-girdle muscular dystrophy R18 Traumatic avascular necrosis Traumatic AVN Traumatic myiasis TRDN-related isolated congenital Long QT syndrome Treacher-Collins syndrome Trehalase deficiency Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triatrial heart Trichinellosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichofolliculoma Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tricuspid Regurgitation Trigeminal autonomic cephalalgia Trigeminal neuralgia Trigeminal trophic syndrome Triglyceride deposit cardiomyovasculopathy Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Trilineage bone marrow failure-developmental delay syndrome TRIM22-related IBD TRIM22-related inflammatory bowel disease TRIM32-related limb-girdle muscular dystrophy R8 Trimethylaminuria Triophthalmia Triopia Triose phosphate-isomerase deficiency TRIP13-related Wilms tumor predisposition syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triple A syndrome Triple H syndrome Triple X Syndrome Triplication 15q25-qter Triplication 15q26 Triplo-X syndrome Triploidy syndrome Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 10 mosaicism Trisomy 10p syndrome Trisomy 12 mosaicism Trisomy 12p syndrome Trisomy 13 syndrome Trisomy 14 mosaicism Trisomy 15 mosaicism Trisomy 16 mosaicism Trisomy 17 mosaicism Trisomy 17p syndrome Trisomy 18 syndrome Trisomy 18p syndrome Trisomy 1q syndrome Trisomy 2 mosaicism Trisomy 20 mosaicism Trisomy 20p syndrome Trisomy 21 Trisomy 22 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism Trisomy 4p syndrome Trisomy 5 mosaicism Trisomy 5p syndrome Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 8p syndrome Trisomy 8q syndrome Trisomy 9 mosaicism Trisomy 9p syndrome Trisomy X syndrome Tritan colour blindness Tritanopia Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRPV4-related bone disorder True congenital pancreatic cyst True congenital shoulder dislocation True microcephaly True myelomeningocele True unicornuate uterus Truncus arteriosus Tsao-Ellingson syndrome TSC2/PKD1 contiguous gene syndrome TSH-secreting pituitary adenoma TSHZ3-related congenital anomalies of kidney-urinary tract syndrome Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever Tubal cancer Tuberculosis Tuberculosis of respiratory system Tuberous Sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tufted angioma Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor of cranial and spinal nerves Tumor of testis and paratestis Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tunnel subaortic stenosis Turban tumor syndrome Turner Syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turnpenny-Fry syndrome Twin anemia-polycythemia sequence Twin-reversed arterial perfusion sequence Twin-to-twin transfusion syndrome Tylosis with oesophageal cancer Tylosis-oesophageal carcinoma syndrome Type 1 galactosemia Type 1 interferonopathy Type 1 syndactyly-microcephaly-intellectual disability syndrome Type 2 galactosemia Type 3 galactosemia Type 4 galactosemia Type I OI Type II OI Type III OI Type IV OI Typhoidal salmonellosis Typical hemolytic uremic syndrome Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Ulcerative Colitis Undifferentiated Pleomorphic Sarcoma Unifocal Langerhans Cell Histiocytosis Uniparental Disomy Univentricular Heart Universal Melanosis Unroofed Coronary Sinus Unspecified Mitochondrial Disorder Upington Disease Upper Respiratory Tract Infections Upper Tract Urothelial Carcinoma Urachal Carcinoma Urachal Tumour Urbach-Wiethe Disease Urban-Rifkin-Davis Syndrome Urban-Rogers-Meyer Syndrome Urban-Schosser-Spohn Syndrome Ureter Carcinoma Uridine 5'-monophosphate hydrolase deficiency Uridine Monophosphate Synthetase Deficiency Urinary Tract Infection s Urioste Syndrome Urocanic Aciduria Urofacial Syndrome Urogenital Tuberculosis Urological Carcinoma Urothelial Carcinoma Urrets-Zavalia Syndrome Uterine Carcinosarcoma Uterine Malignant Mixed Mullerian Tumour UV-sensitive Syndrome Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveomeningitic Syndrome Vaccine-induced immune thrombotic thrombocytopenia VACTERL association VACTERL with hydrocephalus Vacuolar aggregate myopathy Vacuolar sorting protein 45 deficiency Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell tumor Valine metabolic defect Valproic acid embryopathy Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome Vanishing bone disease Vanishing testis syndrome Váradi syndrome Variable age-onset epilepsy syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant Creutzfeldt-Jakob disease Variant of Guillain-Barré syndrome Vascular Ehlers-Danlos polymicrogyria syndrome Vascular Ehlers-Danlos syndrome Vasculitis-autoinflammation immunodeficiency-hematologic defects syndrome Vasoproliferative tumor of the retina Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VCAN-related vitreoretinopathy Vegetant intravascular hemangioendothelioma Vegetative pyoderma gangrenosum VEGFC-related congenital primary lymphedema Vein of Galen arteriovenous malformation Velo-facial-skeletal syndrome Venezuelan hemorrhagic fever Venolymphatic malformation Venous malformation of the spleen Venous malformations with glomus cells Ventilator-induced diaphragmatic dysfunction Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Ventricular septal defect with aortic insufficiency Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verrucous venous malformation Very early-onset schizophrenia Vesicourachal diverticulum VEXAS syndrome Vibratory angioedema Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome Viral hemorrhagic fever Viral Infections Viral myositis Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral arteriovenous malformation Visceral calciphylaxis Visceral fibromuscular dysplasia Visceral heterotaxy Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visual snow syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Vitamin B6-dependent seizures Vitamin D-dependent rickets type I Vitamin D-dependent rickets type II Vitelliform macular dystrophy (Best vitelliform macular dystrophy) Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo Vitreoretinopathy Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease Volcke-Soekarman syndrome Von Meyenburg complexes disease Von Voss-Cherstvoy syndrome VPS11-related autosomal recessive hypomyelinating leukodystrophy VPS45 deficiency Vulto-van Silfout-de Vries syndrome Vulvar adenocarcinoma Vulvar basal cell carcinoma Vulvar carcinoma Vulvar intraepithelial neoplasia Vulvar squamous cell carcinoma Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease Västerbotten dystrophy Weill - Marchesani Syndrome West Syndrome ( Infantile Spasms ) Wilms Tumor Wilson's Disease Wolff-Parkinson-White Syndrome X Chromosome Number Anomaly Syndrome X Chromosome Number Anomaly with Female Phenotype Syndrome X Chromosome Number Anomaly with Male Phenotype Syndrome X-linked acqueductal stenosis X-linked Acrogigantism X-linked Adrenal Hypoplasia Congenita X-linked agammaglobulinemia (Bruton) X-linked AHC X-linked Alpha-thalassemia Intellectual Disability Syndrome X-linked Alport Syndrome X-linked Alport Syndrome-diffuse Leiomyomatosis X-linked Angelman-like Syndrome X-linked aqueductal stenosis X-linked aqueductal stenosis with hydrocephalus X-linked Ataxia-Deafness Syndrome X-linked ataxia-dementia syndrome X-linked ataxia-hearing loss syndrome X-linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 X-linked Autoinflammatory and Immunodeficiency Disease Associated with ELF4 X-linked Branchial Arch Syndrome X-linked bulbospinal muscular atrophy X-linked Calvarial Hyperostosis X-linked Cardioskeletal Myopathy and Neutropenia X-linked Central Congenital Hypothyroidism with Late-onset Macroorchidism X-linked Centronuclear Myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral degeneration syndrome X-linked cerebral-cerebellar degeneration syndrome X-linked Cerebral-Cerebellar-Coloboma Syndrome X-linked Charcot-Marie-Tooth Disease X-linked chondrodysplasia punctata type 2 X-linked Cleft Palate and Ankyloglossia X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital anemia neutropenia syndrome X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked Congenital Generalized Hypertrichosis X-linked corneal dermoid X-linked Creatine Transporter Deficiency X-linked Cutaneous Amyloidosis X-linked deafness syndrome X-linked deafness-intellectual disability syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal hereditary motor neuropathy type 3 X-linked distal myopathy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria X-linked dystonia syndrome X-linked Dystonia-Parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss Muscular Dystrophy X-linked Endothelial Corneal Dystrophy X-linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome X-linked Erythropoietic Protoporphyria X-linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome X-linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked Hearing Loss-Intellectual Disability Syndrome X-linked Hereditary Motor and Sensory Neuropathy X-linked hereditary neuropathy X-linked hereditary sensory and autonomic neuropathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked Hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked Hyper-IgM Syndrome X-linked Hypohidrotic Ectodermal Dysplasia X-linked Immune Dysregulation with Inflammatory Bowel Disease due to ELF4 Deficiency X-linked immunodeficiency syndrome X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia X-linked Immunoneurologic Disorder X-linked Incomplete Achromatopsia X-linked intellectual disability cardiomegaly-congestive heart failure syndrome X-linked intellectual disability cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability cubitus valgus-dysmorphism syndrome X-linked Intellectual Disability due to GRIA3 Mutations X-linked Intellectual Disability due to PQBP1 Mutations X-linked intellectual disability dysmorphism-cerebral atrophy syndrome X-linked intellectual disability epilepsy syndrome X-linked intellectual disability global developmental delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability gynecomastia-obesity syndrome X-linked intellectual disability hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability hypotonia-movement disorder syndrome X-linked intellectual disability limb spasticity-retinal dystrophy-arginine vasopressin deficiency X-linked intellectual disability microcephaly-cortical malformation-thin habitus syndrome X-linked intellectual disability microcephaly-testicular failure syndrome X-linked intellectual disability progressive joint contractures-dysmorphism syndrome X-linked intellectual disability psychosis-macroorchidism syndrome X-linked intellectual disability seizures syndrome X-linked intellectual disability syndrome X-linked Intellectual Disability Syndrome, Lubs Type X-linked Intellectual Disability with Isolated Growth Hormone Deficiency X-linked Intellectual Disability with Marfanoid Habitus X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome X-linked intellectual disability-dystonia-dysarthria syndrome X-linked intellectual disability-hypotonia syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked isolated growth hormone deficiency X-linked Juvenile Retinoschisis X-linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-linked Lethal Multiple Pterygium Syndrome X-linked lissencephaly type 1 X-linked Lissencephaly with Abnormal Genitalia X-linked Mandibulofacial Dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod Syndrome X-linked Mendelian Susceptibility to Mycobacterial Diseases X-linked microcephaly syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked Moesin-associated Immunodeficiency X-linked motor neuron disease X-linked Myopathy with Excessive Autophagy X-linked Myopathy with Postural Muscle Atrophy X-linked Myotubular Myopathy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked Neurodegenerative Syndrome, Bertini Type X-linked Neurodegenerative Syndrome, Hamel Type X-linked neurodevelopmental disorder X-linked Non Progressive Cerebellar Ataxia X-linked Non-syndromic Hearing Loss X-linked Non-syndromic Intellectual Disability X-linked Ohdo Syndrome X-linked Osteoporosis with Fractures X-linked parkinsonism X-linked Parkinsonism-Spasticity Syndrome X-linked peripheral neuropathy X-linked pigmentary disorder X-linked Progressive Cerebellar Ataxia X-linked progressive spastic paraplegia X-linked Pure Spastic Paraplegia X-linked Recessive Hypercalciuric Hypophosphatemic Rickets X-linked Recessive Nephrolithiasis X-linked Recessive Ocular Albinism X-linked Reticulate Pigmentary Disorder X-linked retinal dystrophy X-linked Scapuloperoneal Muscular Dystrophy X-linked scapuloperoneal syndrome X-linked Severe Congenital Neutropenia X-linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection X-linked Sideroblastic Anemia X-linked Sideroblastic Anemia with Ataxia X-linked sideroblastic anemia with spinocerebellar ataxia X-linked skeletal dysplasia X-linked Skeletal Dysplasia-Intellectual Disability Syndrome X-linked spastic paraplegia X-linked Spastic Paraplegia Type 16 X-linked Spastic Paraplegia Type 2 X-linked Spastic Paraplegia Type 34 X-linked spasticity syndrome X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome X-linked Spinal and Bulbar Muscular Atrophy X-linked spinal muscular atrophy type 2 X-linked Spinal Muscular Atrophy with Respiratory Distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type X-linked thrombocytopenia X-linked thrombocytopenia syndrome X-linked thrombocytopenia with normal platelets X-linked vascular malformation syndrome Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Xia-Gibbs syndrome XIAP deficiency syndrome XK aprosencephaly syndrome XK syndrome Xp deletion syndrome Xp21 contiguous gene deletion syndrome Xp21 deletion syndrome Xp21 microdeletion syndrome Xp22.13-p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq duplication syndrome Xq12-q13.3 duplication syndrome Xq21 microdeletion syndrome Xq22.3 microdeletion syndrome Xq25 microduplication syndrome Xq25 microtriplication Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome XX, male syndrome XXX syndrome XY gonadal agenesis syndrome XY sex reversal-adrenal failure XY type gonadal dysgenesis-associated anomalies syndrome Xylitol dehydrogenase deficiency XYLT1-CDG XYY Syndrome	Choose Sign
1-alpha-hydroxylase deficiency 10p12p11 microdeletion syndrome 10p13-p14 deletion syndrome 10p15.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11-beta-hydroxysteroid dehydrogenase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 11p11.2 deletion syndrome 11p15.4 microduplication syndrome 11q terminal deletion syndrome 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21 microdeletion syndrome 12q24.31 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 14q32 duplication syndrome 15q overgrowth syndrome 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p12.1p12.3 triplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q22 deletion syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 17p11.2p12 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 17q24.2 microdeletion syndrome 18p deletion syndrome 18q deletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19p13.3 microduplication syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p35.2 microdeletion syndrome 1p36 deletion syndrome 1p36.33 duplication syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q44 microdeletion syndrome 2,4-dienoyl-CoA reductase deficiency 2,8-dihydroxyadenine urolithiasis 2-aminoadipic 2-oxoadipic aciduria 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11.2 deletion syndrome (Velocardiofacial syndrome) 22q11.2 duplication syndrome 22q13.3 deletion syndrome 2A syndrome 2p13.2 microdeletion syndrome 2p14p15 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 contiguous gene deletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2p25.3 microduplication syndrome 2q13 microdeletion syndrome 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q31.1 microdeletion syndrome 2q32q33 deletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-M syndrome 3-mercaptopyruvate sulfurtransferase deficiency 3-methylglutaconic aciduria 3-methylglutaconic aciduria epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic aciduria neonatal cataract-neurologic involvement congenital neutropenia syndrome 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome 3-methylglutaconyl-CoA hydratase deficiency 3-oxothiolase deficiency 3-phosphoglycerate dehydrogenase deficiency 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3MC syndrome 3MG-CoA hydratase deficiency 3p deletion syndrome 3q subtelomere deletion syndrome 3q13 microdeletion syndrome 3q23 microdeletion syndrome 3q26 microduplication syndrome 3q27.1 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microduplication syndrome 3qter deletion syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 45,X/46,XX mosaicism 45,X/46,XX syndrome 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of gonadal development 46,XX disorder of sex development 46,XX disorder of sex development induced by androgen excess 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome 46,XX ovarian dysgenesis 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development 46,XY disorder of sex development 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to a cholesterol synthesis defect 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 46,XY disorder of sex development due to a testosterone synthesis defect 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone resistance 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to maternal exposure to endocrine disruptors 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial luteinizing hormone resistance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 46,XY disorder of sex development due to testicular steroidogenesis defect 46,XY disorder of sex development due to testosterone synthesis defect 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Abortion - Spontaneous Abruptio Placentae Achlorhydria Acrocephalopolysyndactyly type III (Bixler-Christian-Gorlin syndrome) Acromegaly Actinic lichen planus Acute Myeloid Leukaemia Addison's Disease Adult Still's Disease AIDS Allergic Bronchopulmonary Disease Allergic Reactions Allergic Rhinitis Alpha 1-Antitrypsin Deficiency Alpha Thalassaemia Carrier Alpha Thalassaemia Trait Amyloidosis Anaemia Anaemia - Aplastic Anaphylactoid Reaction - Severe Anencephaly Ankylosing Spondylitis Antley-Bixler Syndrome Aortic Aneurysm Aortic Coarctation Aortic Dilatation Aortic Dissection Aortic Regurgitation Aortic Rupture Aortic Stenosis Aortic Valve Insufficiency Aphasia - Progressive Nonfluent Appendicitis Arteriosclerosis Arthritis Asthma Atelactasis Atrial Septal Defect Atrophic Gastritis Attention Deficit Hyperactivity Disorder (ADHD) Autism B-ALL with t(9;22)(q34.1;q11.2) B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia B-cell expansion with NF-kB and T-cell anergy disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell lymphoma B-cell NHL B-cell non-Hodgkin lymphoma B-cell prolymphocytic leukemia B-K mole syndrome B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); KMT2A rearranged B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome B4GALT1-CDG B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome BACH2-related immunodeficiencyautoimmunity syndrome Bachmann-Bupp syndrome Bacteriaemia Bacterial myositis Bacterial toxic shock syndrome Bader syndrome BAG3-related myofibrillar myopathy Bahemuka-Brown syndrome Bailey-Bloch congenital myopathy Bainbridge-Ropers syndrome Baird syndrome Baker-Gordon syndrome Bakrania-Ragge syndrome Balanced complete atrioventricular canal Balanced partial atrioventricular canal Balantidiasis Balint syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth-Lazarus syndrome Band-like calcification with simplified gyration and polymicrogyria Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Winter cerebrofrontofacial syndrome Barakat syndrome Baralle-Macken syndrome Barber-Say syndrome Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome type 2 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome type 5 Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Baroreflex failure Barraquer-Simons syndrome Bart-Pumphrey syndrome Bartsocas-Papas syndrome Bartter Syndrome Bartter syndrome type 1 Bartter syndrome type 2 Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome with sensorineural hearing loss Basal Cell Carcinoma Basal cell carcinoma of the buccal mucosa Basal cell carcinoma of the oral cavity Basal cell carcinoma of vulva Basal cell nevus syndrome Basal encephalocele Basan-Baird syndrome Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Smirin-Yosef syndrome BASIL syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Baughman syndrome Bazex-Dupré-Christol syndrome BCAS3-related neurodevelopmental disorder BCL11B-related neurodevelopmental disorder BCR-ABL1-like B-ALL Beaulieu-Boycott-Innes syndrome Beck-Fahrner syndrome Becker dystrophinopathy Beckwith - Wiedemann Syndrome Bedouin spastic ataxia syndrome Behavioral variant frontotemporal dementia Behcets Syndrome Bell's Palsy Bellini carcinoma Bellini duct carcinoma Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonus epilepsy Benign atrophic papulosis Benign cephalic histiocytosis Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus Benign congenital sixth cranial nerve palsy Benign familial chorea Benign familial infantile epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benign focal amyotrophy Benign hyperferritinemia Benign intracranial hypertension Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign nocturnal alternating hemiplegia of childhood Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 (BRIC2) Bennion-Patterson syndrome Benson syndrome Bent bone dysplasia BENTA disease Berant syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Bernard-Soulier syndrome Berti lymphoma Berylliosis Best macular dystrophy Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycan-related limb-girdle muscular dystrophy Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia-X-linked thrombocytopenia syndrome Beta-ureidopropionase deficiency Beta2-microglobulinic amyloidosis Bethlem muscular dystrophy Beukes familial hip dysplasia BH4-responsive phenylketonuria BH4-unresponsive phenylketonuria BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Bicervical bicornuate uterus Bickers-Adams syndrome Bickerstaff brainstem encephalitis Biemond syndrome Bietti crystalline dystrophy Bifid femur-monodactylous ectrodactyly syndrome Bifid nose with or without anorectal and renal anomalies Bifunctional enzyme deficiency Bilateral acute depigmentation of the iris Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria Bilateral striopallidodentate calcinosis Bile acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Biliary Cirrhosis Biliary cystadenocarcinoma Biliary hamartoma Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-induced neurological dysfunction Binder syndrome Biochemical variant galactosemia Biotin-responsive basal ganglia disease Biparietal Alzheimer disease Bipartite talus Bipolar Disorder Birdshot chorioretinopathy Birk-Barel syndrome Bitemporal aplasia cutis congenita Björnstad syndrome Bladder Carcinoma - Squamous Cell Bladder pain syndrome Blake pouch cyst Blakemore-Durmaz-Vasileiou syndrome Blastic plasmacytoid dendritic cell neoplasm Blau syndrome Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to CalDAG-GEFI deficiency Bleeding disorder due to P2Y12 defect Bleeding disorder in hemophilia A carriers Bleeding disorder in hemophilia B carriers Blepharo-cheilo-odontic syndrome Blepharochalasis-double lip syndrome Blepharonasofacial malformation syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharophimosis-ptosis epicanthus inversus syndrome plus (BPES plus) Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-telecanthus-microstomia syndrome Blepharoptosis-myopia-ectopia lentis syndrome Blepharospasm-oromandibular dystonia syndrome Blindness-scoliosis-arachnodactyly syndrome Blomstrand chondrodysplasia Blomstrand osteochondrodysplasia Blood Vessel Rupture Blount disease Blue colour blindness Blue cone monochromacy Blue diaper syndrome Blue rubber bleb nevus Bockenheimer syndrome Body cavity-based lymphoma Body integrity dysphoria Body integrity identity disorder Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body stalk anomaly Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia-medullary fibrosarcoma syndrome Bone filaminopathy Bone fragility-contractures-arterial rupture-hearing loss syndrome Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Bone marrow failure-diabetes mellitus syndrome Bone necrosis Bone necrosis of genetic origin Bone sarcoma Bonneau syndrome Bonnemann-Meinecke-Reich syndrome Boomerang dysplasia Borderline vascular neoplasm Borderline vascular tumor Borna virus encephalitis Bornholm eye disease Borrmann gastric cancer type 4 Bosch-Boonstra-Schaaf optic atrophy syndrome Bosley-Salih-Alorainy syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Boucher-Neuhäuser syndrome Bowel Obstruction Bowel Rupture Bowen-Conradi syndrome Boyadjiev-Jabs syndrome BPES type 1 BPES type 2 BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Brachial plexus neuritis Brachmann-de Lange syndrome Brachmann-de Lange syndrome type 1 Brachmann-de Lange syndrome type 2 Brachmann-de Lange syndrome type 3 Brachmann-de Lange syndrome type 4 Brachmann-de Lange syndrome type 5 Brachycephalofrontonasal dysplasia Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome Brachydactylous dwarfism, Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B1 Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly type E, with short stature and hypertension Brachydactyly, Farabee type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-intellectual disability syndrome Brachydactyly-joint dysplasia syndrome Brachydactyly-long thumb syndrome Brachydactyly-mesomelia intellectual disability-heart defects syndrome Brachydactyly-nystagmus cerebellar ataxia syndrome Brachydactyly-preaxial hallux varus syndrome Brachydactyly-scoliosis-carpal fusion syndrome Brachydactyly-short stature-retinitis pigmentosa syndrome Brachydactyly-short staturemicrocephaly syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism-onychodysplasia-dysphalangism syndrome Brachyolmia Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Hobaek/Toledo type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy-dysmorphism-Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Bradykinin-induced angioedema Bradyopsia Brailsford disease Brain abnormalities neurodegeneration-dysosteosclerosis disease Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain Abscess Brain Agenesis Brain arteriovenous malformation, nidus type Brain calcification, Rajab type Brain cortical dysplasia Brain dopamine-serotonin vesicular transport disease Brain inflammatory disease Brain malformation due to abnormal neuronal migration Brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Brain Stem Syndrome Brain-lung-thyroid syndrome Branch pulmonary artery stenosis Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial arch or oral-acral syndrome Branchial arch syndrome Branchial dysplasia-intellectual disability-inguinal hernia syndrome Branchio-oculo-facial syndrome Branchiogenic deafness syndrome Branchiogenic hearing loss syndrome Branchiootic syndrome Branchiootorenal spectrum disorder Branchiootorenal syndrome Branchioskeletogenital syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever Brazilian pemphigus BRE syndrome Breast implant-associated ALCL Breast implant-associated anaplastic large cell lymphoma BRESEK syndrome Bresheck syndrome BRIC BRIC type 1 BRIC type 2 Brill disease Brill-Zinsser disease Brittle cornea syndrome Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Brock s Syndrome Brodie abscess Brodie myopathy Brody myopathy Bronchial malformation Bronchial NET Bronchial neuroendocrine tumor Bronchial Obstruction Bronchiectasis Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia syndrome Bronchiolitis obliterans syndrome Bronchitis Bronchoesophageal Fistula Bronchogenic carcinoma Bronchopneumonia Bronchopulmonary sequestration Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Sequard's Syndrome BRPF1-related neurodevelopmental disorder Brucella melitensis infection Brucella suis infection Bruck syndrome Brugada Syndrome Brugada syndrome type 1 Brugada syndrome type 2 Brugada syndrome type 3 Brunner syndrome Brunner syndrome type 1 Brunner syndrome type 2 Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Bruton agammaglobulinemia BSEP deficiency Buckley syndrome Budd-Chiari Syndrome Budd-Chiari-like syndrome Buerger-like disease Bulbar Paralysis Bulbospinal muscular atrophy Bull-Nixon syndrome Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous dermolysis of the newborn Bullous diffuse cutaneous mastocytosis Bullous impetigo Bullous lichen planus Bullous pyoderma gangrenosum Bullous systemic lupus erythematosus Buphthalmia Buphthalmos Buphthalmus Burkholderia mallei infection Burkholderia pseudomallei infection Burkitt s Lymphoma Burkitt-like lymphoma Burn-McKeown syndrome Burning mouth syndrome Burton skeletal dysplasia Burton syndrome Buschke scleredema Buschke-Fischer-Brauer syndrome Buschke-Ollendorff-like syndrome Butterfly vertebrae syndrome Butterfly-shaped pattern dystrophy Butterfly-shaped pigment dystrophy Butterfly-shaped pigmentary macular dystrophy Buttiens-Fryns syndrome BWS due to imprinting defect of 11p15 BWS due to paternal uniparental disomy of chromosome 11 Byler disease Byler-like disease Böök syndrome Cancer - Oesophagus Caplan's Syndrome Carcinoma Cardiac Amyloidosis Cardiac Failure Cardiomyopathy Cardiovascular Disease Carnitine palmitoyltransferase I deficiency Carpal Tunnel Syndrome Central Core Disease Cerebral Atrophy Cerebral Haemorrhage Cerebral Infarction Cerebral Palsy Cerebral Vein Thrombosis Cerebritis Cerebrovascular Accident Cervical Lymphadenitis CHARGE Syndrome Cholecystitis Choledochal Cyst Cholestasis Chronic Hepatitis Chronic Myelomonocytic Leukaemia (CMML) Chronic traumatic encephalopathy (Boxer's dementia) Cirrhosis Cleft Lip Cleft Palate CNS - Demyelinating Lesions CNS Haemangioblastoma CNS Parenchymal Disease Coagulopathy Coeliac Disease Colitis Collagen-vascular Diseases Colon - Amoeboma Colon - Obstruction Colon - Perforation Colon - Stricture Colon - Toxic Dilatation Colon - Volvulus Colorectal Cancer Common Bile Duct Obstruction Congenital contractural arachnodactyly (Beals syndrome) Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome type 1, BSCL type 1) Congenital generalized lipodystrophy type 2 (Berardinelli-Seip syndrome type 2, BSCL type 2) Congenital generalized lipodystrophy type 3 (Berardinelli-Seip syndrome type 3, BSCL type 3) Congenital generalized lipodystrophy type 4, BSCL type 4 Congenital Heart Defect Congenital lipoid adrenal hyperplasia due to STAR deficiency Congestive Cardiac Failure COPD Cor Pulmonale Cord Compression Crohn Disease Crouzon Syndrome CRST Syndrome Cushing's Syndrome Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cyclocephaly Cystic Fibrosis Cystic transformation of pancreatic acini D+ HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria Da Silva syndrome DA1 DA10 DA2B DA5D Dabska tumor Dacryocele Dacryocystocele DADA2 Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy - Walker Syndrome Dandy-Walker malformation-postaxial polydactyly syndrome Daneman-Davy-Mancer syndrome Danon disease Dapsone hypersensitivity syndrome Dapsone-induced hemolytic anemia Darbepoetin alfa-induced pure red cell aplasia Darcy disease Darier-like disease Dark skin susceptibility to melanoma Darmstadt syndrome DARS2-related leukoencephalopathy Dasyprocta syndrome Datura poisoning Davis syndrome Dawson disease Day blindness Day blindness with myopia Day blindness, congenital stationary Day blindness, Oguchi type Day blindness, progressive Day blindness, stationary DBA DBS syndrome DCAF17-related syndrome DCHS1-related mitral valve prolapse syndrome DCLRE1C deficiency DCP2-related neurodevelopmental disorder De Barsy syndrome De Grouchy syndrome De Grouchy syndrome type 1 De Grouchy syndrome type 2 De Lange syndrome De Morsier syndrome De Quervain thyroiditis De Sanctis syndrome De Sanctis-Cacchione syndrome Deafness dystonia syndrome Deafness-encephalopathy-fatty liver syndrome Deafness-infertility syndrome Deafness-myopathy syndrome Deafness-nephropathy syndrome Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome Deafness-renal anomalies syndrome Deafness-renal-genital syndrome Deafness-retinitis pigmentosa syndrome Deafness-short stature-facial dysmorphism syndrome Deafness-skeletal anomalies syndrome Deafness-vision impairment syndrome Death cap mushroom poisoning DeBarsy syndrome Decubitus ulcers Dejerine-Roussy syndrome Dejerine-Sottas disease Dekaban-Arima syndrome Del (5)(q35) Del (5)(qter) Del(1)(p21.3) Del(1)(p31p32) Del(1)(p35.2) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(10)(p11.21p12.31) Del(10)(p13p14) Del(10)(p15.3) Del(10)(q22.3q23.3) Del(11)(p13) Del(11)(q22.2q22.3) Del(11)(q23.3) Del(11)(qter) Del(12)(p12.1) Del(12)(p13.33) Del(12)(q14) Del(12)(q15)(q21) Del(13)(q12.3) Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q22q23) Del(14)(q32) Del(15)(q11q13) Del(15)(q13.3) Del(15)(q24) Del(15)(q26) Del(16)(p11.2) Del(16)(p13.3) Del(16)(q22) Del(17)(p11.2) Del(17)(p12) Del(17)(p13.3) Del(17)(q12) Del(17)(q21.31) Del(18)(p11.2) Del(18)(q12.2) Del(18)(q21) Del(18)(q23) Del(19)(p13.3) Del(19)(q13.11) Del(2)(p11.2) Del(2)(p16.1) Del(2)(p21) Del(2)(p25) Del(2)(q13) Del(2)(q21q23) Del(2)(q31) Del(2)(q32) Del(2)(q33.1) Del(2)(q37) Del(20)(p12.3) Del(20)(q11.2) Del(20)(q13.11) Del(21)(q21) Del(21)(q22.11) Del(21)(q22.13) Del(21)(q22.2) Del(22)(q11.2) Del(22)(q13) Del(3)(p13) Del(3)(p14) Del(3)(p21.31) Del(3)(p25) Del(3)(q13.31) Del(3)(q21q22) Del(3)(q25) Del(3)(q29) Del(4)(p14) Del(4)(p16) Del(5)(q22) syndrome Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25.2q25.3) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)(q24.3) Del(8)q(13) Del(9)(p13) Del(9)(q21.3) Del(9)(q31.1q31.3) Del(9)(q33.3q34.11) Del(X)(p21) Del(X)(p23) Del(X)(q21) Delayed encephalopathy due to carbon monoxide poisoning Delayed membranous cranial ossification Delayed sleep phase syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delleman-Oorthuys syndrome Delpire-McNeill syndrome Delta granule disease Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-aminolevulinic acid dehydratase deficiency porphyria Delta-storage pool disease Demyelinating Charcot-Marie-Tooth disease Demyelinating neuropathy-central dysmyelination-Waardenburg syndrome Demyelinating polyneuropathy with deafness and cranial nerve involvement Demyelinating sensorimotor neuropathy Demyelination with brain stem and spinal cord involvement and lactate elevation Dengue Haemorrhagic Fever - DHF Dengue hemorrhagic fever Dengue Shock Syndrome - DSS Dens invaginatus Dense deposit disease Dentatorubral-pallidoluysian atrophy Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta Denture stomatitis Denys-Drash syndrome Deoxyguanosine kinase deficiency Deoxyribose phosphate aldolase deficiency Depersonalization-derealization disorder Deprenyl-associated psychosis Depression with psychotic features Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome Der(22)t(11;22) syndrome Der(8)t(8;12) Dercum disease Dermal hypoplasia focal Dermal sinus tract Dermatillomania Dermatitis granulomatous interstitial Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatosparaxis Ehlers-Danlos syndrome Dermatostomatitis, Stevens Johnson type Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermoid or epidermoid cyst of the central nervous system Dermolytic epidermolysis bullosa Dermoodontodysplasia Dermotrichic syndrome DES embryofetopathy DES syndrome Desanto-Shinawi syndrome Desbuquois dysplasia DESC syndrome Desert fever Desert rheumatism Desmin-related myopathy Desmoid tumor Desmoplastic infantile astrocytoma Desmoplastic melanoma Desmoplastic small round cell tumor Desmosterolosis Desquamative interstitial pneumonia Developmental and epileptic encephalopathy due to GRIN1 mutation Developmental and epileptic encephalopathy due to SCN1A mutation Developmental and epileptic encephalopathy due to STXBP1 mutation Developmental delay with hypotonia and facial dysmorphism Developmental delay with microcephaly and seizures Developmental dysplasia of the hip Developmental encephalopathy with epilepsy Developmental regression-intellectual disability syndrome Dextrocardia with situs inversus Dextroposition of the heart Dextrotransposition of the great arteries Diabetes insipidus Diabetes Insipidus Diabetes insipidus, central Diabetes insipidus, nephrogenic Diabetes Mellitus Diabetes mellitus due to insulin receptor deficiency Diabetes mellitus due to mitochondrial DNA mutation Diabetes mellitus due to pancreatic agenesis Diabetes mellitus, permanent neonatal Diabetic Ketoacidosis Dialysis-related amyloidosis Dialysis-related arthropathy Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Dianzani autoimmune lymphoproliferative disease DIAPH1-related sensorineural deafness-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic or abdominal wall malformation Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia-anemia syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Diarrheogenic islet cell tumor Dias-Logan syndrome Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diastrophic dysplasia variant Diastrophic dysplasia-limb shortening syndrome Diastrophic dysplasia-micrognathia syndrome Diastrophic dysplasia-vertebral anomalies syndrome Diastrophic-like dysplasia Diastrophic-like dysplasia with joint contractures Diastrophic-like dysplasia with vertebral anomalies Diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism Dicarboxylic aminoaciduria DICER1 tumor-predisposition syndrome Didelphys uterus DIDMOAD syndrome DIDOD Didymosis aplasticosebacea Diencephalic cachexia Diencephalic syndrome Diencephalic syndrome of childhood Diencephalic syndrome of emaciation Diencephalic-mesencephalic junction dysplasia Dietary iron overload disease Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Diets-Jongmans syndrome Difference of sex development Difference of sex development of gynecological interest Difference of sex development-intellectual disability syndrome Diffuse alveolar hemorrhage Diffuse capillary malformation with overgrowth Diffuse cutaneous mastocytosis Diffuse dermal angiomatosis Diffuse esophageal leiomyomatosis Diffuse gastric cancer, hereditary Diffuse idiopathic skeletal hyperostosis Diffuse infantile hepatic hemangioma Diffuse intrinsic pontine glioma Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the CNS Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse panbronchiolitis Diffuse pulmonary lymphangiomatosis Diffuse scleroderma Diffuse systemic sclerosis Diffuse Unilateral Subacute Neuroretinitis Diffuse vascular malformation syndrome Diffuse white matter abnormality with spasticity and dementia Diffuse white matter disease with axonal spheroids Diffuse-type tenosynovial giant cell tumor Digital clubbing Digital fibromatosis, infantile Digital ulcers in systemic sclerosis Dihydropteridine reductase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left atrial appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DILE DiMauro disease Dimethylglycine dehydrogenase deficiency Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome DIPG Diphallia Diphyllobothriasis Diplomyelia Diplophthalmia Diprosopia Diprosopus Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Discoid lupus erythematosus Discoid lupus erythematosus, familial Discoid meniscus Disconnection syndrome Discontinuous splenogonadal fusion Discrepant atrioventricular connections Diseminated superficial actinic porokeratosis Dishevelled hair syndrome Disinhibition-dementia-parkinsonism-amyotrophy complex Dislocation of the patella, congenital Disorders of biopterin metabolism Disorders of cobalamin metabolism Disorders of creatine metabolism Disorders of fructose metabolism Disorders of galactose metabolism Disorders of glycine metabolism Disorders of lysine metabolism Disorders of mitochondrial DNA maintenance Disorders of proline metabolism Disorders of serine metabolism Disorders of sulfur metabolism Disorders of tetrahydrobiopterin metabolism Disorders of tyrosine metabolism Disorders of valine metabolism Disseminated actinic granuloma Disseminated adenovirus infection Disseminated Intravascular Coagulation Disseminated peritoneal leiomyomatosis Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal anoctaminopathy Distal arthrogryposis Distal arthrogryposis type 1 Distal arthrogryposis type 10 Distal arthrogryposis type 5D Distal deletion 10p syndrome Distal deletion 10q syndrome Distal deletion 12p syndrome Distal deletion 12q syndrome Distal deletion 13q syndrome Distal deletion 14q syndrome Distal deletion 15q syndrome Distal deletion 17q syndrome Distal deletion 19p syndrome Distal deletion 1q syndrome Distal deletion 3p syndrome Distal deletion 4p Distal deletion 4q syndrome Distal deletion 6p syndrome Distal deletion 6p25 Distal deletion 7p syndrome Distal deletion 7q36 Distal deletion 9p syndrome Distal dup(22)(q11.2) Distal dup(7)(q11.23) Distal dup(X)q(28) Distal duplication 10q syndrome Distal duplication 11q syndrome Distal duplication 13q syndrome Distal duplication 14q syndrome Distal duplication 15q syndrome Distal duplication 16p Distal duplication 16q syndrome Distal duplication 17q syndrome Distal duplication 18q syndrome Distal duplication 19q syndrome Distal duplication 1p36 syndrome Distal duplication 20q syndrome Distal duplication 22q syndrome Distal duplication 2p syndrome Distal duplication 2q syndrome Distal duplication 3p syndrome Distal duplication 4p syndrome Distal duplication 4q syndrome Distal duplication 5q syndrome Distal duplication 6p syndrome Distal duplication 6q syndrome Distal duplication 7p syndrome Distal duplication 8p syndrome Distal duplication 8q syndrome Distal duplication 9p syndrome Distal duplication 9q syndrome Distal hereditary motor neuropathy Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 Distal hereditary motor neuropathy type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal Intestinal Obstruction Syndrome Distal myopathy Distal myopathy type 1 Distal myopathy type 2 Distal myopathy type 3 Distal myopathy type 4 Distal myopathy type 5 Distal trisomy 22q11.2 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy Xq28 Distal-HMN type 6 Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK phocomelia syndrome DK1-CDG DKC DLBCL of the CNS DLG3-related intellectual disability DLX5-related split hand-foot malformation DM1 DM2 DMDD DMGDH deficiency DMPK-related myotonic dystrophy DNA repair disorder with growth deficiency (Bloom syndrome) DNM2-related centronuclear myopathy DNMT3A overgrowth syndrome DNMT3A-related intellectual disability syndrome DOCK2 deficiency DOCK8 deficiency Dolichocephaly Dolichol kinase deficiency Dolichyl-phosphate-mannose synthase 1 deficiency Dolichyl-phosphate-mannose synthase 2 deficiency Dolichyl-phosphate-mannose synthase 3 deficiency Dolichyl-phosphate-mannose synthase deficiency Dolichyl-phosphate-mannose synthase deficiency-dystroglycanopathy syndrome Dolly syndrome Dominant beta-thalassemia Dominant drusen Dominant dystrophic epidermolysis bullosa Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant KATP hyperinsulinism due to Kir6.2 deficiency Dominant optic atrophy Dominant optic atrophy plus syndrome Dominant optic atrophy with cataract Dominant optic atrophy with deafness Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome DONSON-related microcephaly-short stature-limb abnormalities spectrum DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dopamine transporter deficiency syndrome Dorfman-Chanarin syndrome Dorsal spinal cord lipoma Double A syndrome Double discordance Double inlet atrioventricular connection Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Down syndrome due to mosaic trisomy 21 Down syndrome due to translocation Down syndrome with acute lymphoblastic leukemia Down syndrome with acute myeloid leukemia Down syndrome with transient myeloproliferative disorder Dravet syndrome Dreifuss muscular dystrophy Drepanocytosis DRESS syndrome Drinking water-associated arsenic toxicity Drooling-choreoathetosis syndrome Drop attacks DRPLA Drug reaction with eosinophilia and systemic symptoms Drug-induced agranulocytosis Drug-induced aseptic meningitis Drug-induced autoimmune hemolytic anemia Drug-induced autoimmune thrombocytopenia Drug-induced cholestasis Drug-induced eosinophilia Drug-induced hypersensitivity syndrome Drug-induced immune thrombocytopenia Drug-induced interstitial lung disease Drug-induced lupus erythematosus Drug-induced myopathy Drug-induced pancreatitis Drug-induced parkinsonism Drug-induced photosensitivity Drug-induced pneumonitis Drug-induced pruritus Drug-induced QT prolongation Drug-induced thrombocytopenia Drug-induced vasculitis Dry eye syndrome, severe congenital Dry scalp syndrome Dubowitz syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy with cardiomyopathy Duchenne muscular dystrophy, female carrier Ductal plate malformation Duodenal duplication Duodenal obstruction Dysostosis Multiplex Eales disease Ear Infections Ear-patella-short stature syndrome Early infantile developmental and epileptic encephalopathy Early onset familial encephalopathy with neuroserpin inclusion bodies Early onset non-syndromic cataract Early onset progressive leukoencephalopathy central nervous system calcification hearing loss visual impairment syndrome Early-onset autoinflammatory syndrome due to A20 haploinsufficiency Early-onset autosomal recessive TTN-related distal myopathy Early-onset benign childhood occipital epilepsy Early-onset calcifying leukoencephalopathy skeletal dysplasia Early-onset cerebellar ataxia with retained tendon reflexes Early-onset citrullinemia type 1 Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism Early-onset epilepsy intellectual disability brain anomalies syndrome Early-onset familial hyperreninemic hypoaldosteronism Early-onset generalized torsion dystonia Early-onset idiopathic chronic pancreatitis Early-onset Lafora body disease Early-onset obesity-hyperphagia severe developmental delay syndrome Early-onset Parkinson disease Early-onset parkinsonism intellectual disability syndrome Early-onset prion disease with prominent psychiatric features Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive neurodegeneration-blindness-ataxia spasticity syndrome Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to AP3D1 deficiency Early-onset severe retinal dystrophy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome East Texas bleeding disorder Eastman-Bixler syndrome Eating reflex epilepsy EBV-associated gastric carcinoma EBV-associated lymphoproliferative disorder EBV-associated mesenchymal tumor EBV-induced lymphoproliferative disease due to CARMIL2 deficiency EBV-induced lymphoproliferative disease due to CD70 deficiency EBV-induced lymphoproliferative disease due to CTPS1 deficiency EBV-induced lymphoproliferative disease due to PRKCD deficiency EBV-induced lymphoproliferative disease due to RASGRP1 deficiency EBV-positive diffuse large B-cell lymphoma Eccrine angiomatous hamartoma Ectasia of the left atrial appendage Ectasia of the right atrial appendage Ectasic coloboma Ectodermal dysplasia Ectodermal dysplasia Berlin type Ectodermal dysplasia trichoodontoonychial type Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth Ectodermal dysplasia with natal teeth Turnpenny type Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples Ectodermal dysplasia-acanthosis nigricans syndrome Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Ectodermal dysplasia-short stature syndrome Ectodermal dysplasia-skin fragility syndrome Ectopia cordis Ectopia lentis syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopic ACTH secreting tumor Ectopic aldosterone-producing tumor Ectopic neurohypophysis Eczema Encephalitis - Diffuse Encephalitis - Focal Encephalomyelitis Encephalopathy Endocarditis Endometrial Neuroendocrine Tumour Endophthalmitis Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteropathy Enteropathy-associated T-cell lymphoma Enthesitis-related juvenile idiopathic arthritis Eosinophilic angiocentric fibrosis Eosinophilic cellulitis Eosinophilic colitis Eosinophilic cystitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granulomatosis with polyangiitis Ependymoma EPHB4-related capillary malformation-arteriovenous malformation EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis Epiblepharon Epibronchial right pulmonary vein syndrome Epicardial coronary artery fibromuscular dysplasia Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermal nevus syndrome (Becker nevus syndrome) Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa dystrophica Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with nephropathy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic epidermal nevus Epidermolytic palmoplantar keratoderma Epididymo-Orchitis Epignathus Epilepsia partialis continua Epilepsy Epilepsy of infancy with migrating focal seizures Epilepsy with auditory features Epilepsy with eyelid myoclonia Epilepsy with generalized tonicclonic seizures alone Epilepsy with myoclonic absences Epilepsy with myoclonic-atonic seizures Epileptic encephalopathy with spike-and-wave activation in sleep Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphysiolysis of the upper femur Episkopi blindness Episodic ataxia type 1 Episodic ataxia type 2 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia type 8 Episodic ataxia with myokymia Episodic ataxia with slurred speech Episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic choreoathetosis/spasticity Episodic spontaneous hypothermia Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelial tumor of anal canal Epithelial tumor of the appendix Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor Epithelioma calcificans of Malherbe Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature Equinia Erdheim-Chester disease ERF-related syndromic craniosynostosis Erosive pustular dermatosis of the scalp Erysipelas Erythema elevatum diutinum Erythema multiforme major Erythema palmare hereditarium Erythematous Candida Erythrocyte GALE deficiency Erythrocyte lactate transporter defect Erythrodermic ichthyosis Erythrokeratoderma variabilis progressiva Erythrokeratoderma with ataxia Erythrokeratodermia-cardiomyopathy syndrome Erythroleukemia Escher-Hirt syndrome Escobar syndrome Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction Esophageal atresia with or without trachea-esophageal fistula Esophageal squamous cell carcinoma Essential mixed cryoglobulinemia Estrogen resistance syndrome Ethylene glycol poisoning Ethylmalonic encephalopathy Euhidrotic ectodermal dysplasia Euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dystransthyretinemic hyperthyroxinemia Euthyroid Graves orbitopathy EVEN-plus syndrome Excess breast volume or number Excretory apparatus of the lacrimal system anomaly Exencephaly Exercise intolerance with lactic acidosis Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliative ichthyosis EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Exomphalos-macroglossia-gigantism syndrome Exostoses-anetodermia-brachydactyly type E syndrome Exposure-related interstitial lung disease Exstrophy-epispadias complex Extensive venous malformation External auditory canal aplasia/hypoplasia Extra-adrenal aldosterone-producing tumor Extra-ovarian primary peritoneal carcinoma Extracranial carotid artery aneurysm Extracutaneous mastocytoma Extragonadal germ cell tumor Extragonadal germinoma Extragonadal non-dysgerminomatous germ cell tumor Extragonadal teratoma Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraskeletal myxoid chondrosarcoma Extrathoracic heart Extraventricular neurocytoma Extremity fibromuscular dysplasia Extrinsic Allergic Alveolitis Eye-brow duplication-syndactyly syndrome EZH2-related overgrowth syndrome F syndrome F12-related hereditary angioedema with normal C1 inhibitor FACES syndrome Facial cleft Facial dermoid cyst Facial diplegia with paresthesias variant of Guillain-Barré syndrome Facial dysmorphism hypertrichosis-epilepsy-intellectual disability-developmental delay-gingival overgrowth syndrome Facial dysmorphism macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-anorexia cachexia-eye and skin anomalies syndrome Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy Facial dysmorphism-global developmental delay-hypotoniapolymicrogyria syndrome Facial dysmorphism-intellectual disability-rhombencephalosynapsis syndrome Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities spontaneous filtering blebs syndrome Facial dysmorphism-ocular anomalies-osteopenia-intellectual disabilitydental anomalies syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphismdevelopmental delay-behavioral abnormalities syndrome Facial dysmorphismimmunodeficiency-livedo-short stature syndrome Facial granuloma of Lever Facial hemispasm Facial infiltrating lipomatosis Facial nerve palsy due to varicella zoster virus Facial neuralgia Facial onset sensory and motor neuronopathy Facio-audio-symphalangism syndrome Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glossal diplegia with automatic-voluntary dissociation Facio-pharyngo-glosso-masticatory diplegia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Factor IX deficiency, Leyden type Factor V Amsterdam bleeding disorder Factor V and Factor VIII combined deficiency Factor V Atlanta bleeding disorder Factor V East Texas bleeding disorder Factor V Quebec Factor V short isoforms-related bleeding disorder FADD-related immunodeficiency FAH deficiency FAHN Fallot complex-intellectual disability-growth delay syndrome Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adrenal hypoplasia Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein A-I variant Familial amyloid nephropathy due to apolipoprotein A-II variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy type IV Familial Amyloid Syndromes Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency Familial APOA5 deficiency Familial apoC-II deficiency Familial apolipoprotein A-V deficiency Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial articular hypermobility syndrome Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial breast cancer Familial breast carcinoma Familial calcium pyrophosphate deposition disease Familial caudal dysgenesis Familial cavitary optic disc anomaly Familial CD8 deficiency Familial cerebral amyloid angiopathy Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial chilblain lupus Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold autoinflammatory syndrome type 4 Familial cold urticaria with common variable immunodeficiency Familial colorectal cancer type X Familial congenital contralateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial congenital palsy of trochlear nerve Familial continuous skin peeling syndrome Familial cortical myoclonic tremor and epilepsy Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cylindromatosis Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial drusen Familial dysautonomia Familial dysautonomia with contractures Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dyslipidemia type 3 Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial gigantiform cementoma Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial hollow visceral myopathy Familial hyperaldosteronism type 1 Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type 4 Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis-indicanuria syndrome Familial hypercholanemia Familial hyperestrogenism Familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinsulinemic hypoglycemia Familial hyperinsulinism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperphosphatemic tumoral calcinosis Familial hyperprolactinemia Familial hyperthyroidism due to TSH receptor mutation Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial idiopathic steroidresistant nephrotic syndrome Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation Familial intestinal polyposis Familial intracranial saccular aneurysm Familial intrahepatic cholestasis Familial intraosseous vascular malformation Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form Familial isolated arrhythmogenic ventricular dysplasia, right-dominant form Familial isolated café-au-lait macules Familial isolated café-au-lait spots Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated retinal arteriolar tortuosity Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial macular edema Familial median cleft of the upper and lower lips Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy Familial mitral valve prolapse Familial monosomy 7 syndrome Familial multinodular goiter Familial multiple cutaneous leiomyomas Familial multiple discoid fibromas Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains Familial multiple trichodiscomas Familial multiple trichoepithelioma Familial nasal acilia Familial non-immune hyperthyroidism Familial non-syndromic thoracic aortic aneurysm and aortic dissection Familial nonmedullary thyroid carcinoma Familial nonpolyposis colorectal cancer Familial normophosphatemic tumoral calcinosis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial orthostatic tachycardia due to norepinephrine transporter deficiency Familial ossifying fibroma Familial osteochondritis dissecans Familial osteonecrosis of femoral head Familial pancreatic cancer Familial papillary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial partial epilepsy Familial partial epilepsy with variable foci Familial partial lipodystrophy Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Familial patent arterial duct Familial pelvis-scapular dysplasia Familial peripheral male-limited precocious puberty Familial pheochromocytomaparaganglioma Familial platelet disorder with associated myeloid malignancy Familial platelet disorder with predisposition to acute myeloid leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial porencephaly Familial porphyria cutanea tarda Familial primary hyperparathyroidism Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary localized cutaneous amyloidosis Familial primary self-healing squamous epithelioma Familial prion disease Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive subcortical gliosis Familial prostate cancer Familial pseudohyperkalemia Familial pterygium of the conjunctiva Familial pulmonary arterial hypertension Familial pyrimidinemia Familial reactive perforating collagenosis Familial rectal pain syndrome Familial recurrent arthritis Familial recurrent Bell palsy Familial renal amyloidosis Familial renal amyloidosis due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-II variant Familial renal amyloidosis due to lysozyme variant Familial renal glucosuria Familial renal hypouricemia Familial retinal arterial macroaneurysm Familial scaphocephaly syndrome Familial scaphocephaly-radioulnar synostosis syndrome Familial schizencephaly Familial spastic paraplegia Familial spontaneous pneumothorax Familial startle disease Familial syringomyelia Familial systemic lupus erythematosus Familial temporal lobe epilepsy Familial thoracic aortic aneurysm and dissection Familial thrombocythemia Familial thrombocytosis Familial thyroglossal duct cyst Familial transthyretin-related amyloidosis Familial tumoral calcinosis Familial vesicoureteral reflux Familial visceral myopathy Familial vocal cord dysfunction Familial woolly hair syndrome Fanconi Syndrome Fanconi-Bickel syndrome FAR1 deficiency Fara-Chlupackova syndrome Fara-Chlupackova syndrome type 1 Fara-Chlupackova syndrome type 2 Farber disease Fasciolopsiasis Fast-channel congenital myasthenic syndrome Fast-flow vascular malformation FASTKD2-related infantile mitochondrial encephalomyopathy Fatal Familial Insomnia Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency Fatal infantile encephalopathy with mitochondrial respiratory chain defects Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatal infantile hypertonic myofibrillar myopathy Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal pontocerebellar hypoplasiahypotonia-respiratory insufficiency syndrome Fatal post-viral neurodegenerative disorder FATCO syndrome Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fatty acid oxidation disorder with cardiomyopathy Fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 superactivity Faulk-Epstein-Jones syndrome Favism FBLN1-related developmental delay-central nervous system anomalysyndactyly syndrome FBPase deficiency Febrile infection-related epilepsy syndrome Feer disease Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson syndrome Feingold syndrome Feingold syndrome type 1 Feingold syndrome type 2 Fellman disease Felty syndrome Felty's Syndrome Female adnexal tumor of probable Wolffian origin Female infertility due to implantation defect of genetic origin Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Femoral head epiphysiolysis Femoral hypoplasia-unusual facies syndrome Femoral-facial syndrome Femur-fibula-ulna complex Femur-fibula-ulna syndrome Fenestrae parietales symmetricae Fenton-Wilkinson-Toselano syndrome Ferguson-Smith disease Ferlini-Ragno-Calzolari syndrome Ferritin-related neurodegeneration Ferro-cerebro-cutaneous syndrome Ferroportin disease Fetal acetylcholine receptor antibody-related disorder Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal Alcohol Syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal anticonvulsant syndrome Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal Death Fetal Distress in Labour Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal iodine syndrome Fetal lower urinary tract obstruction Fetal lung interstitial tumor Fetal methylmercury poisoning Fetal parvovirus syndrome Fetal rubella syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate spectrum disorder Fetal valproate syndrome Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathy Fever-associated acute infantile liver failure syndrome Fever-induced refractory epileptic encephalopathy in school-aged children Fibro-adipose vascular anomaly Fibroblastic rheumatism Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrolamellar hepatocellular carcinoma Fibrolipomatous filum terminale anomaly Fibroma-like epithelioid sarcoma Fibromuscular dysplasia Fibromuscular dysplasia of cervical and intracranial arteries Fibromuscular dysplasia of renal arteries Fibromuscular dysplasia of the arteries of the extremities Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing Alveolitis Fibrosing mediastinitis Fibrotic hypersensitivity pneumonitis Fibular aplasia-complex brachydactyly syndrome Fibular aplasia-ectrodactyly syndrome Fibular aplasia-tibial campomeliaoligosyndactyly syndrome Fibular dimelia-diplopodia syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome FIC1 deficiency Fiessinger-Leroy disease Filamin A-related X-linked myxomatous valvular dysplasia Filamin C-related myofibrillar myopathy Filamin-related bone disorder Filariasis Filippi syndrome FILS syndrome FINCA syndrome Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hidradenoma Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed drug eruption Fixed subaortic stenosis FKBP14-related Ehlers-Danlos syndrome FKRP-related limb-girdle muscular dystrophy FKTN-related congenital muscular dystrophy Fleck corneal dystrophy Flegel disease FLNA-related valvular dystrophy FLNC-related distal myopathy Floating-Harbor syndrome Floppy Valve Syndrome Florid cemento-osseous dysplasia Flow limitation in the iliac artery Fluctuating myotonia Flynn-Aird syndrome Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal facial dermal dysplasia Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type 2 Focal facial dermal dysplasia type 3 Focal facial dermal dysplasia type 4 Focal intestinal perforation Focal myositis Focal nodular myositis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Focal segmental glomerulosclerosis (FSGS) Focal stiff-person syndrome Fogo selvagem Foix-Chavany-Marie syndrome Folate Deficiency Folate receptor alpha deficiency Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular lichen planus Folliculotropic mycosis fungoides Fontaine progeroid syndrome Fontan-associated liver disease Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia syndrome Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome FOSL2-related neurodevelopmental disorder FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia-presenile cataract syndrome Fowler syndrome Fowler urethral sphincter dysfunction syndrome Fowler vasculopathy Fowler-Christmas-Chapple syndrome FOXG1 syndrome FOXG1 syndrome due to 14q12 microdeletion FOXG1 syndrome due to intragenic alteration FOXG1-related epileptic-dyskinetic encephalopathy FOXP1 syndrome FOXP2-associated speech and language disorder Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor-ataxia syndrome Fragile X-associated tremor/ataxia syndrome Fragoso-Cantú syndrome Franceschetti Oculodigital Sign Franceschetti-Klein syndrome François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Frank-Ter Haar syndrome Fraser syndrome Frasier syndrome FRAXE intellectual disability Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Burian syndrome Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freiberg disease Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frey syndrome Fried syndrome Fried tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal dysplasia Frontonasal dysplasia type 1 Frontonasal dysplasia type 2 Frontonasal dysplasia type 3 Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-alopeciagenital anomalies syndrome Frontonasal dysplasia-bifid noseupper limb anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with motor neuron disease Frontotemporal neurodegeneration with movement disorder Froster-Huch syndrome Froster-Iskenius-Waterson-Hall syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Fructose-1,6-diphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly syndrome Fryns microphthalmia syndrome Fryns-Hofkens-Fabry syndrome Fucosidosis type I and II Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuhara syndrome Fukutin-related limb-girdle muscular dystrophy Fukuyama congenital muscular dystrophy Fumarase deficiency Fumarylacetoacetase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblE Functioning gonadotropic adenoma Functioning pancreatic neuroendocrine tumor Functioning pituitary adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal keratitis Fungal myositis Furukawa-Takagi-Nakao syndrome Furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Dermatobia hominis Fusariosis Fused mandibular incisors Fusion of metacarpals 4 and 5 Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI Gerstmann-Sträussler-Scheinker disease GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gonadal Dysgenesis Gout Guillain Barre Syndrome Gyrate Atrophy H syndrome H syndrome-like disorder H-ABC H-type tracheoesophageal fistula H1-4-related neurodevelopmental disorder HA20-related monogenic Behcet-like disease Haberland syndrome Haddad syndrome Hadziselimovic syndrome Haemochromatosis Haemoglobin Bart's disease Haemoglobin Bart's hydrops fetalis Haemoglobin Bart's hydrops fetalis syndrome Haemoglobin E disease Haemoglobin H Disease Haemoglobin H-Constant Spring disease Haemoglobin Lepore syndrome Haemoglobin M-Hyde Park disease Haemoglobin S/D Punjab disease Haemoglobin S/O-Arab disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Haemorrhagic septicemia due to Capnocytophaga canimorsus HAFOUS HAFOUS due to USP7 mutation Hailey-Hailey disease Haim-Munk syndrome Hair-nail ectodermal dysplasia Hairy Cell Leukaemia Hairy cell leukemia variant Hairy elbows syndrome Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus-preaxial polysyndactyly syndrome HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity-flat facies syndrome Hand-foot-genital syndrome HaNDL syndrome Hanhart syndrome Hanot syndrome Hantavirosis Hantavirus pulmonary syndrome Hao-Fountain syndrome HAPE Hapnes-Boman-Skeie syndrome Haptocorrin deficiency Harboyan syndrome Hard flaccid syndrome Hardikar syndrome Harding disease Harlequin ichthyosis Harlequin syndrome HARP syndrome Harrod syndrome Hartnup disorder Hartnup syndrome with pellagra-like rash Hashimoto encephalopathy Hashimoto thyroiditis with encephalopathy Hashimoto-Pritzker syndrome Haspeslagh syndrome Haspeslagh-Fryns-Muelenaere syndrome HbS-Lepore disease HbS-O Arab disease HbS-other specified hemoglobin variant disease HbSD disease HbSE disease HBSL HCD HCDD HCFC1-related disorder HCHWA HCHWA, Arctic type HCHWA, Dutch type HCHWA, Flemish type HCHWA, Icelandic type HCHWA, Iowa type HCHWA, Italian type HCHWA, Piedmont type HD-HA syndrome HDFN HDL1 HDL2 HDL3 HDLS HDR syndrome HDV Head and neck neuroendocrine carcinoma Head and neck paraganglioma Head and neck squamous cell carcinoma, rare hereditary form Headache syndrome due to glycine receptor autoimmunity Healing palmoplantar keratoderma Hearing impairment-cataract-retinal degeneration syndrome Hearing impairment-early graying syndrome Hearing impairment-intellectual disability syndrome Hearing impairment-macular degeneration syndrome Hearing impairment-retinitis pigmentosa syndrome Hearing impairment-thrombocytopenia syndrome Hearing loss with labyrinthine aplasia, microtia, and microdontia Hearing loss-amelogenesis imperfecta syndrome Hearing loss-cardiomyopathy syndrome Hearing loss-cataract syndrome Hearing loss-craniofacial syndrome Hearing loss-epilepsy syndrome Hearing loss-familial salivary gland insensitivity syndrome Hearing loss-hyperopia-clinodactyly syndrome Hearing loss-intellectual disability syndrome, Mariner type Hearing loss-myopia-intellectual disability syndrome Hearing loss-nephritis syndrome Hearing loss-onychodystrophy syndrome Hearing loss-renal disease syndrome Hearing loss-short stature syndrome Hearing loss-vertebral anomalies syndrome Hecht syndrome Hecht-Beals syndrome Heerfordt syndrome Heimler syndrome Heinz body anemia Helicobacter pylori infection Helicobacter pylori-associated gastric carcinoma Heller myopathy HELLP syndrome Helmholtz syndrome Helminthiasis, rare forms Hemangioblastoma Hemangioma, capillary Hemangioma, cavernous Hemangioma, infantile Hemangiomatosis, diffuse neonatal Hemangiopericytoma Hemeralopia-congenital cataract syndrome Hemeralopia-myopia-color blindness-deafness syndrome Hemeralopia-recurrent respiratory infections syndrome Hemiballismus Hemicrania continua Hemifacial microsomia Hemifacial spasm Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly Hemimelic epiphyseal dysplasia Hemiparkinsonism-hemiatrophy syndrome Hemiplegia migraine, familial Hemispheric cerebral agenesis-hypoplasia syndrome Hemochromatosis (Bronze diabetes) Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E-beta-thalassemia syndrome Hemoglobin H disease Hemoglobin M disease Hemoglobin S-beta-thalassemia syndrome Hemoglobin SC disease Hemoglobinopathy due to unstable hemoglobin Hemoglobinopathy Toms River type Hemolytic uremic syndrome with complement factor H deficiency Hemolytic uremic syndrome with complement factor I deficiency Hemolytic uremic syndrome with membrane cofactor protein deficiency Hemolytic uremic syndrome, atypical Hemolytic uremic syndrome, typical Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis, familial Hemophagocytic lymphohistiocytosis, secondary Hemophilia C Hemorrhagic cystitis Hemorrhagic disease of the newborn Hemorrhagic shock and encephalopathy syndrome Hemorrhagic stroke due to cerebral amyloid angiopathy Hemorrhagic telangiectasia, cerebral form Hemorrhagic telangiectasia, cutaneous form Hemorrhagic telangiectasia, hepatic form Hemorrhagic telangiectasia, pulmonary form Henoch-Schonlein Purpura Henoch-Schonlein purpura nephritis HEPACAM-related megalencephalic leukoencephalopathy Hepatic adenoma, familial Hepatic epithelioid hemangioendothelioma Hepatic Failure Hepatic glycogen storage disease due to glycogen synthase deficiency Hepatic hemangioma Hepatic lipase deficiency Hepatic mesenchymal hamartoma Hepatic steatosis due to lipodystrophy Hepatic Vein Thrombosis Hepatic veno-occlusive disease with immunodeficiency Hepaticorectal fistula Hepatitis Hepatitis B virus-associated polyarteritis nodosa Hepatitis C virus-associated mixed cryoglobulinemia Hepatitis delta Hepatocele Hepatocellular Carcinoma Hepatocerebral form of mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Hepatocutaneous syndrome Hepatolenticular degeneration Hepatopulmonary syndrome Hepatorenal Failure Hephaestin-related iron transport disease Hereditary acral reticulate pigmentary disorder Hereditary acrokeratotic poikiloderma Hereditary amyloidosis, Finnish type Hereditary amyloidosis, transthyretin-related Hereditary congenital facial paresis Hereditary diffuse gastric cancer Hereditary fibrosing poikiloderma with tendon contractures Hereditary folate malabsorption Hereditary gingival fibromatosis Hereditary hyperekplexia Hereditary hyperferritinemia-cataract syndrome Hereditary inclusion body myopathy Hereditary isolated aplastic anemia Hereditary isolated MTC Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis and renal cell cancer Hereditary Lev-Lenègre disease Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy, Okinawa type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple glomangiomas Hereditary myoclonus-progressive distal muscular atrophy syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary nephrotic syndrome Hereditary neurocutaneous malformation Hereditary neuroendocrine tumor of small bowel Hereditary neurogenic diabetes insipidus Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary nonpolyposis colorectal cancer Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary optic neuropathy Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary papillary renal cell carcinoma Hereditary PCCD Hereditary periodic fever syndrome Hereditary periodic fever syndromes Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pituitary hyperplasia Hereditary poikiloderma Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary pseudocholinesterase deficiency Hereditary pseudohaemophilia Hereditary pulmonary alveolar proteinosis Hereditary pulmonary arterial hypertension Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy due to DNMT1 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy with dementia and hearing loss Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary SI-NET Hereditary sick sinus syndrome Hereditary sodium channelopathy-related small fiber neuropathy Hereditary steroid-resistant nephrotic syndrome Hereditary stomatocytic disease Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with early-onset myelodysplasia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defects Hereditary transthyretin amyloid polyneuropathy Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary xerocytosis Heredopathia atactica polyneuritiformis Herlyn-Werner-Wunderlich syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes labialis Herpes simplex virus encephalitis Herpes simplex virus stromal keratitis Herpetiform pemphigus Hers disease Herva disease Heterozygous microdeletion 17p11.2p12 HEXA disorder, adult form HEXA disorder, infantile form HEXA disorder, juvenile form Hexosaminidase activator deficiency Heyn-Sproul-Jackson syndrome High bone mass osteogenesis imperfecta High grade B-cell lymphoma with MYC and/or BCL2 and/or BCL6 rearrangements High myopia-sensorineural deafness syndrome Hilar cholangiocarcinoma Hippocampal memory defect leukoencephalopathy Hippocampal sclerosis-related mesial temporal lobe epilepsy Hirayama disease Hirschsprung disease and intellectual disability due to MED13L deficiency Hirschsprung disease and intellectual disability due to ZEB2 deficiency Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-intellectual disability syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-type D brachydactyly syndrome Hirsutism-congenital gingival hyperplasia syndrome His bundle tachycardia Histidinuria-renal tubular defect syndrome Histiocytic and dendritic cell tumor Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy Histiocytosis X HITT HIV-associated cancer HJMD HLHS HMC syndrome HMG-CoA lyase deficiency HMG-CoA synthase deficiency HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF1B-related nephropathy HNRNPA1-related adult-onset distal myopathy HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH2-related neurodevelopmental disorder HNRNPK-related neurodevelopmental disorder HNRNPR-related neurodevelopmental disorder HNRPH1-related neurodevelopmental disorder HO-1 deficiency Hobnail hemangioma HOD Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome Hoffmann syndrome HoFH HOGA Holmes-Adie syndrome Holmes-Collins syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holohemispheric giant cerebral arteriovenous malformation Holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-radial heart renal anomalies syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocystinuria Homocystinuria due to CBS deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous 2p21 microdeletion syndrome Homozygous alpha0-thalassemia Homozygous beta-thalassemia Homozygous delta-beta thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia due to APOB deficiency Homozygous familial hypercholesterolemia due to LDLR deficiency Homozygous familial hypercholesterolemia due to PCSK9 deficiency Homozygous hemoglobin C disease Homozygous hemoglobin D disease Homozygous hemoglobin E disease Homozygous hemoglobin Lepore syndrome Homozygous hemoglobin O Arab disease Homozygous hemoglobin O-Arab disease Homozygous hemoglobin S disease Homozygous hypobetalipoproteinemia Homozygous protein C deficiency Homozygous protein S deficiency Homozygous variegate porphyria Honey-droplet corneal dystrophy Honeycomb corneal dystrophy HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horner Syndrome Hornstein-Knickenberg syndrome Hot water reflex epilepsy Houge-Janssens syndrome-1 Houlston-Ironton-Temple syndrome Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPDL-related Leigh-like encephalopathy HPRT complete deficiency HPRT deficiency HPRT partial deficiency HPS10 HPS2 HRD syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related cerebral small vessel disease Hughes-Stovin syndrome Human herpesvirus 8-related disorder Human herpesvirus-8-associated multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Human infection by orthopoxvirus Human prion disease Humerus trochlea aplasia Hunter-Jurenka-Thompson syndrome Hunter-McAlpine syndrome Hunter-Rudd-Hoffmann syndrome Hunter-Thompson-Reed syndrome Huntington disease phenocopy due to C9ORF72 expansion Huntington disease phenocopy syndrome Huntington disease-like 1 Huntington disease-like 2 Huntington disease-like 3 Huntington disease-like 4 Huppke-Brendel syndrome HUPRA syndrome Huriez syndrome Hurler-Scheie syndrome Hutchinson summer prurigo Hutchinson-Gilford progeria syndrome Hyaline body myopathy Hyaline fibromatosis syndrome Hyaline membrane disease Hyaline ring granuloma Hyalinosis cutis et mucosae Hyaluronidase 2 deficiency Hyaluronidase deficiency Hybrid acute leukemia Hybrid peripheral nerve sheath tumor Hydatid disease Hydatidiform mole Hydatidiform mole, biparental recurrent form Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydranencephaly with abnormal genitalia Hydrargyria Hydroa vacciniforme Hydroa vacciniforme-like lymphoproliferative disorder Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Hydrocephalus with hop gait, abducens palsy and psychomotor retardation Hydrocephalus with obesity, hypogonadism, and retinal dystrophy Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus-blue sclera-nephropathy syndrome Hydrocephalus-cleft palate-joint contractures syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-endocardial fibroelastosis-cataract syndrome Hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-tall stature-joint laxity-kyphoscoliosis syndrome Hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-low insertion umbilicus syndrome Hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly/hydranencephaly due to cerebral vascular anomaly Hydrolethalus syndrome 2 Hydrometrocolpos-polydactyly syndrome Hydronephrosis-inverted smile syndrome Hydrops fetalis Hydrops Fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystem failure syndrome Hydroxyacyl-CoA dehydrogenase trifunctional protein deficiency Hydroxykynureninuria Hydroxymethylglutaric aciduria Hydroxymethylglutaryl-CoA lyase deficiency Hydroxysteroid dehydrogenase deficiency, isolated Hygroma colli Hymenolepiasis Hyper-beta-alaninemia Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome, autosomal recessive Hyper-IgM syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome type 6 Hyper-IgM syndrome type 7 Hyperalaninemia Hyperaldosteronism Hyperammonemia Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperargininemia due to arginase deficiency Hyperbilirubinemia due to Crigler-Najjar syndrome type 2 Hyperbilirubinemia due to Gilbert syndrome Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcaemia Hypercalcemic tumoral calcinosis Hypercalciuria-bilateral macular coloboma syndrome Hypercholanemia, familial Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HyperCKemia with myalgia HyperCKemia, idiopathic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercontractile muscle stiffness syndrome Hyperdibasic aminoaciduria Hyperekplexia with apnea Hyperekplexia, hereditary major form Hyperekplexia, hereditary minor form Hyperekplexia-epilepsy syndrome Hypereosinophilic obliterative bronchiolitis Hypereosinophilic syndrome with idiopathic eosinophilia Hyperexplexia due to glycine receptor deficiency Hyperferritinemia with cataract Hyperglycerolemia Hyperglycinuria Hyperglycinuria due to iminoglycinuria syndrome Hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-hearing loss-ataxia syndrome Hypergonadotropic hypogonadism-retinitis pigmentosa syndrome Hypergonadotropic ovarian dysgenesis Hyperimidodipeptiduria Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycaemia Hyperinsulinism due to ABCC8 deficiency Hyperinsulinism due to AKT2 deficiency Hyperinsulinism due to CACNA1D deficiency Hyperinsulinism due to exercise-induced monocarboxylate transporter 1 expression Hyperinsulinism due to FOXA2 deficiency Hyperinsulinism due to GCK deficiency Hyperinsulinism due to GLUD1 deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HK1 deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to KCNJ11 deficiency Hyperinsulinism due to mitochondrial glutamate carrier deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to phosphoglucomutase 1 deficiency Hyperinsulinism due to PMM2 deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to TRMT10A deficiency Hyperinsulinism due to UCP2 anomaly Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism-hyperammonemia due to GLUD1 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemia-hypertension syndrome, Gordon type Hyperkeratosis congenita Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans of Flegel Hyperkeratosis palmoplantaris striata varians Hyperkeratosis-hyperpigmentation syndrome Hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlysinemia Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermobile Ehlers-Danlos syndrome Hyperornithinemia-gyrate atrophy of choroid and retina syndrome Hyperostosis corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis cranialis interna Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasemia tarda Hyperphosphatasia-intellectual disability syndrome Hyperpigmentation of the skin Hyperprolinemia type 1 Hyperprolinemia type 2 Hypersarcosinemia Hypersensitivity pneumonitis Hypersensitivity vasculitis Hypertelorism-hypospadias syndrome Hypertelorism-hypospadias-polysyndactyly syndrome Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertension due to gain-of-function mutations in MR Hyperthyroidism Hypertrichosis cubiti Hypertrichosis lanuginosa acquisita Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome Hypertrichosis-pigmentary retinopathy-facial anomalies syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy due to mitochondrial disease Hypertrophic cardiomyopathy with kidney anomalies and limb defects syndrome Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of Dejerine-Sottas Hypertrophic olivary degeneration Hypertrophic or verrucous lupus erythematosus Hypertrophic osteoarthropathy, primary Hypertrophic pyloric stenosis Hypertrophic spinal pachymeningitis Hypertryptophanemia Hyperuricemia-pulmonary hypertension-renal failure syndrome Hyperviscosity Syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules-retardation syndrome Hypoadrenalism Hypoalphalipoproteinemia Hypobetalipoproteinemia due to ANGPTL3 deficiency Hypobetalipoproteinemia-chylomicron retention disease syndrome Hypocalcemic seizures-intellectual disability syndrome Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypocalciuric hypercalcemia, familial Hypochondrogenesis Hypocomplementemic urticarial vasculitis Hypocretin/orexin deficiency syndrome Hypodiploid ALL Hypodontia-dysplasia of nails syndrome Hypodontia-nail dysgenesis syndrome Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome Hypogammaglobulinaemia Hypogammaglobulinemia due to CD21 deficiency Hypogammaglobulinemia due to CD81 deficiency Hypogammaglobulinemia due to FNIP1 deficiency Hypogammaglobulinemia due to LAT deficiency Hypogammaglobulinemia due to MSN deficiency Hypogammaglobulinemia due to TWEAK deficiency Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Hypogenetic lung syndrome Hypoglossia-hypodactylia syndrome Hypoglossia/aglossia Hypogonadism Hypogonadism-alopecia-diabetes mellitus-mental retardation syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-severe microcephaly-developmental delay syndrome Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypointestinal pseudoobstruction with facial dysmorphism syndrome Hypokalemic alkalosis with sensorineural deafness Hypokalemic alkalosis-hypomagnesemia syndrome Hypokalemic nephropathy Hypokalemic nephropathy with sensorineural deafness Hypokalemic periodic paralysis type 1 Hypokalemic periodic paralysis type 2 Hypokalemic periodic paralysis with central core disease Hypokalemic periodic paralysis with paramyotonia Hypokalemic periodic paralysis, atypical form Hypokalemic rickets Hypokalemic sensory overstimulation Hypokalemic tubulopathy with hearing loss Hypokeratosis of palms and soles Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelinating leukodystrophy Hypomyelinating leukodystrophy due to FAM126A deficiency Hypomyelinating leukodystrophy due to HIKESHI deficiency Hypomyelinating leukodystrophy due to NKX6-2 deficiency Hypomyelinating leukodystrophy due to TMEM106B deficiency Hypomyelinating leukodystrophy with brain stem and spinal cord involvement Hypomyelinating leukodystrophy with or without oligodontia Hypomyelinating leukodystrophy with slowly progressive ataxia Hypomyelinating leukodystrophy-ataxia-hypodontia syndrome Hypomyelinating leukodystrophy-hypogonadotropic hypogonadism syndrome Hypomyelinating neuropathy with congenital glaucoma Hypomyelinating neuropathy-congenital cataract syndrome Hypomyelination and congenital cataract Hypomyelination with atrophy of the basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with cataract and developmental delay Hypomyelination with congenital spondylocostal dysostosis Hypomyelination with delayed myelination and vanishing white matter Hypomyelination with early cerebellar atrophy Hypomyelination with hypodontia and hypogonadotropic hypogonadism Hypomyelination with optic nerve atrophy and basal ganglia abnormalities Hypomyelination with severe intellectual disability and basal ganglia abnormalities Hypomyelination with vanishing white matter Hypomyelination, hypogonadotropic hypogonadism and hypodontia Hypomyelination-congenital cataract syndrome Hypomyelination-spondyloepimetaphyseal dysplasia syndrome Hypoparathyroidism Hypoparathyroidism due to CASR gain-of-function mutation Hypoparathyroidism due to GCM2 deficiency Hypoparathyroidism due to GNA11 gain-of-function mutation Hypoparathyroidism due to PTH deficiency Hypoparathyroidism due to SOX3 duplication Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Hypoparathyroidism-deafness-renal dysplasia syndrome Hypoparathyroidism-intellectual disability-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism due to TBCE deficiency Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-short stature-intellectual disability syndrome Hypophosphatasia Hypophosphatasia due to ALPL deficiency Hypophosphatasia, adult form Hypophosphatasia, childhood form Hypophosphatasia, infantile form Hypophosphatasia, odontohypophosphatasia form Hypophosphatasia, perinatal benign form Hypophosphatasia, perinatal lethal form Hypophosphatasia-seizures-intellectual disability syndrome Hypophosphatemic nephrolithiasis-osteoporosis syndrome Hypophosphatemic rickets with hypercalciuria Hypophosphatemic rickets with hyperparathyroidism Hypophosphatemic rickets with nephrocalcinosis Hypophosphatemic rickets with renal phosphate wasting Hypophosphatemic rickets, autosomal dominant Hypophosphatemic rickets, autosomal recessive Hypophosphatemic rickets, X-linked dominant Hypophyseal duplication Hypophyseal gigantism Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation, organomegaly, and delayed myelination syndrome Hypopigmentation-deafness syndrome Hypopigmentation-immunodeficiency with or without neurologic defects syndrome Hypopigmentation-neurologic impairment syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism Hypopituitarism due to GLI2 deficiency Hypopituitarism due to HESX1 deficiency Hypopituitarism due to LHX3 deficiency Hypopituitarism due to LHX4 deficiency Hypopituitarism due to LHX4 mutation with Chiari malformation Hypopituitarism due to OTX2 deficiency Hypopituitarism due to POU1F1 deficiency Hypopituitarism due to PROP1 deficiency Hypopituitarism due to transcription factor defect Hypopituitarism with ectopic posterior pituitary and pituitary stalk interruption syndrome Hypoplasia of corpus callosum with microcephaly and coloboma Hypoplasia of the cerebellum with progressive microcephaly Hypoplasia of the inferior cerebellar vermis with psychomotor retardation Hypoplasia of the mitral valve annulus Hypoplasia of the optic nerve with endocrine abnormalities Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic amelogenesis imperfecta and nephrocalcinosis Hypoplastic anemia due to ribosomal protein deficiency Hypoplastic anemia with myelofibrosis Hypoplastic anemia-retardation syndrome Hypoplastic bone marrow failure syndrome Hypoplastic corpus callosum-retinopathy syndrome Hypoplastic distal phalanges-hypoplastic nails syndrome Hypoplastic left heart complex Hypoplastic left heart syndrome Hypoplastic left heart syndrome with aortic atresia Hypoplastic left heart syndrome with intestinal malrotation Hypoplastic left heart syndrome with mitral atresia Hypoplastic left heart syndrome with mitral stenosis Hypoplastic left heart syndrome with restrictive atrial septum Hypoplastic left heart syndrome with splenic anomalies Hypoplastic myelodysplastic syndrome Hypoplastic myelodysplastic syndrome with fibrosis Hypoplastic or aplastic tibia with polydactyly Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic right heart syndrome Hypoplastic right ventricle with pulmonary atresia Hypoplastic thumbs and halluces with ocular anomalies Hypoplastic thumbs with distal phalangeal aplasia and short stature Hypoplastic thumbs-onychodystrophy-deafness syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tricuspid valve syndrome Hypoplastic tricuspid valve with pulmonary atresia Hypoplastic uterus and vagina syndrome Hypoplastic uterus with distal vaginal atresia Hypoplastic vitreoretinopathy Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyporegenerative anemia with mitochondrial dysfunction Hyporeninemic hypertension Hyporeninemic hypoaldosteronism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hypospadias with facial anomalies and intellectual disability Hypospadias with growth retardation syndrome Hypospadias, severe form Hypospadias-dysphagia syndrome Hypospadias-intellectual disability, Goldblatt type Hypospadias-mental retardation syndrome Hypospadias-microcephaly syndrome Hypospadias-retardation syndrome, Opitz type Hypospadias-short stature-intellectual disability syndrome Hypotelorism-cleft palate-hypospadias syndrome Hypothalamic adipsic hypernatraemia syndrome Hypothalamic hamartoblastoma syndrome Hypothalamic hamartoma with gelastic seizures Hypothyroidism Hypothyroidism due to deficient transcription factors Hypothyroidism due to TSH receptor mutations Hypothyroidism-cleft palate syndrome Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Hypotonia and developmental delay with atrophy of the leg muscles Hypotonia and ichthyosis due to dolichol phosphate mannose synthase deficiency Hypotonia and intellectual disability syndrome due to UNC80 deficiency Hypotonia and psychomotor retardation with characteristic facies Hypotonia ataxia developmental delay syndrome Hypotonia developmental delay and characteristic facies syndrome Hypotonia infantile with psychomotor retardation and characteristic facies 1 Hypotonia infantile with psychomotor retardation and characteristic facies 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia infantile with psychomotor retardation and characteristic facies 4 Hypotonia infantile with psychomotor retardation and characteristic facies 5 Hypotonia infantile with psychomotor retardation and characteristic facies 6 Hypotonia infantile with psychomotor retardation and characteristic facies 7 Hypotonia with lactic acidemia and hyperammonemia Hypotonia, infantile, with psychomotor retardation and characteristic facies 10 Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 Hypotonia, infantile, with psychomotor retardation and characteristic facies 12 Hypotonia, infantile, with psychomotor retardation and characteristic facies 8 Hypotonia, infantile, with psychomotor retardation and characteristic facies 9 Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome Hypotonia-cerebellar atrophy-developmental delay syndrome Hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome due to 2p21 deletion Hypotonia-cystinuria type 1 syndrome Hypotonia-deafness syndrome Hypotonia-encephalopathy-seizure syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypotonia-hypogonadism-hypogenitalism-obesity-developmental delay syndrome Hypotonia-intellectual disability-behavioral abnormalities syndrome Hypotonia-intellectual disability-obesity syndrome Hypotonia-motor delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotonia-speech impairment-severe cognitive delay syndrome due to CTBP1 deficiency Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular dystrophy due to CDH3 deficiency Hypotrichosis with keratosis pilaris and alopecia Hypotrichosis with recurrent skin blistering Hypotrichosis with recurrent skin vesicles Hypotrichosis with woolly hair Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-juvenile macular degeneration syndrome Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defects syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-retinal degeneration juvenile macular dystrophy syndrome Hypotrichosis-skin lesions-acral blistering syndrome Hypouricemia with exercise-induced acute kidney injury Hypouricemia, renal Hypouricemia, renal, type 1 Hypouricemia, renal, type 2 Hypouricemic nephrolithiasis Hypouricemic nephropathy Hypoventilation due to congenital leptin receptor deficiency Hypoventilation syndrome due to congenital leptin deficiency Hypovitaminosis D rickets due to vitamin D receptor defect Hypoxic-ischemic encephalopathy Hyrtl anomaly Hystrix-like ichthyosis with deafness syndrome Hystrix-like ichthyosis-deafness syndrome due to GJB2 deficiency I-TGCV ICF syndrome ICF syndrome type 2 ICF syndrome type 3 ICF syndrome type 4 Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome Ichthyosis vulgaris Ichthyosis-spastic quadriplegia-mental retardation syndrome Idiopathic CD4 lymphocytopenia Idiopathic environmental intolerance Idiopathic generalized epilepsy Idiopathic Hyperprolactinaemia Idiopathic infantile arterial calcification Idiopathic ketotic hypoglycemia Idiopathic lymphocytopenia Idiopathic non-cirrhotic portal hypertension Idiopathic pleuroparenchymal fibroelastosis Idiopathic portal hypertension Idiopathic scoliosis Idiopathic short stature Idiopathic systemic capillary leak syndrome Idiopathic Thrombocytopenic Purpura Idiopathic ventricular tachycardia IgA glomerulonephritis IgA nephropathy IgA pemphigus IgA vasculitis IgG4-related disease IGHD IGHD type 1A IGHD type 1B IGHD type 2 IGHD type 3 IgM deficiency, selective IgM glomerulonephritis IgM nephropathy IL10 deficiency IL10 receptor deficiency IL12 receptor beta 1 deficiency IL21 receptor deficiency IL2RG deficiency IL6 receptor deficiency IL7 receptor deficiency Imerslund-Gräsbeck syndrome Immune complex mediated vasculitis Immune deficiency with skin involvement Immune dysregulation disease with immunodeficiency Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Immune dysregulation with inflammatory bowel disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune hydrops fetalis Immune thrombocytopenia, chronic Immune-mediated acquired neuromuscular junction disease Immune-mediated cerebellar ataxia Immune-mediated necrotizing myopathy Immune-mediated scleritis Immune-mediated thrombotic thrombocytopenic purpura Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a complement cascade component deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a complement regulatory deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to ADA deficiency Immunodeficiency due to AK2 deficiency Immunodeficiency due to CARD11 deficiency Immunodeficiency due to CARD9 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to CD40 deficiency Immunodeficiency due to CD40 ligand deficiency Immunodeficiency due to DOCK8 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to GATA2 deficiency Immunodeficiency due to IKZF1 deficiency Immunodeficiency due to IL2RB deficiency Immunodeficiency due to IRF8 deficiency Immunodeficiency due to JAK3 deficiency Immunodeficiency due to LCK deficiency Immunodeficiency due to MALT1 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to NEMO deficiency Immunodeficiency due to ORAI1 deficiency Immunodeficiency due to PIK3CD mutation Immunodeficiency due to PIK3R1 mutation Immunodeficiency due to PNP deficiency Immunodeficiency due to RAG1 deficiency Immunodeficiency due to RAG2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to STAT1 gain-of-function mutation Immunodeficiency due to STAT3 mutation Immunodeficiency due to STIM1 deficiency Immunodeficiency due to TCF3 deficiency Immunodeficiency due to TYK2 deficiency Immunodeficiency due to ZAP70 deficiency Immunodeficiency with antibody deficiency and autoimmunity Immunodeficiency with combined B and T cell defect Immunodeficiency with DNA repair defect Immunodeficiency with factor I anomaly Immunodeficiency with hyper IgE and recurrent infections Immunodeficiency with hyper IgM due to AICDA deficiency Immunodeficiency with hyper IgM due to UNG deficiency Immunodeficiency with hyper IgM, X-linked Immunodeficiency with hypopigmentation and neurologic abnormalities Immunodeficiency with immune dysregulation due to FOXP3 deficiency Immunodeficiency with lymphopenia due to CD3 deficiency Immunodeficiency with lymphopenia due to CD45 deficiency Immunodeficiency with lymphopenia due to CORO1A deficiency Immunodeficiency with lymphopenia due to MST1 deficiency Immunodeficiency with lymphopenia due to PTPRC deficiency Immunodeficiency with lymphopenia due to RAC2 deficiency Immunodeficiency with lymphopenia due to TTC7A deficiency Immunodeficiency with lymphoproliferation and autoimmunity Immunodeficiency with multiple intestinal atresias Immunodeficiency with susceptibility to EBV infection Immunodeficiency with susceptibility to fungal infections Immunodeficiency with susceptibility to herpes simplex virus infection Immunodeficiency with susceptibility to HPV infection Immunodeficiency with susceptibility to mycobacterial disease Immunodeficiency with susceptibility to viral infections Immunodeficiency with thymoma Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-epilepsy syndrome Immunodeficiency-intellectual disability syndrome Immunodeficiency-microcephaly syndrome Immunodeficiency-short stature-facial dysmorphism syndrome Immunotherapy induced hypophysitis Imperforate oropharynx-costovertebral anomalies syndrome Imprinting disorders Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Incomplete septal cirrhosis Indeterminate cell histiocytosis Indolent B-cell non-Hodgkin lymphoma Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indomethacin embryofetopathy Infant botulism Infantile apnea Infantile bilateral striatal necrosis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome Infantile CLN1 disease Infantile CLN2 disease Infantile convulsions and choreoathetosis Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile epileptic spasms syndrome Infantile epileptic-dyskinetic encephalopathy Infantile esotropia Infantile facioscapulohumeral muscular dystrophy Infantile free sialic acid storage disease Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis Infantile hemangioma Infantile hepatocerebral mitochondrial DNA depletion syndrome Infantile hypophosphatasia Infantile hypotonia with psychomotor retardation Infantile idiopathic scoliosis Infantile Krabbe disease Infantile liver failure syndrome type 1 Infantile liver failure syndrome type 2 Infantile liver failure syndrome type 3 Infantile liver failure syndrome type 4 Infantile liver failure syndrome type 5 Infantile liver failure syndrome type 6 Infantile malignant osteopetrosis Infantile neuroaxonal dystrophy Infantile onset ascending hereditary spastic paralysis Infantile onset epileptic encephalopathy Infantile onset sialidosis Infantile onset spinal muscular atrophy with respiratory distress Infantile onset spinocerebellar ataxia Infantile spasms syndrome Infantile spondylocostal dysostosis Infantile systemic hyalinosis Infantile systemic lupus erythematosus Infantile tremor syndrome Infantile unilateral striatal necrosis Infantile visceral leishmaniasis Infantile-onset inflammatory bowel disease Infantile-onset multisystem neurologic endocrine pancreatic disease Infantile-onset spinocerebellar degeneration Infantile-onset X-linked spinal muscular atrophy Infectious aortitis Infectious crystalline keratopathy Infectious scleritis Infective Endocarditis Infective myocarditis Inferior Vena-caval Obstruction Inflammatory aortic aneurysm Inflammatory Bowel Disease Inflammatory bowel disease associated with immunodeficiency Inflammatory bowel disease due to IL10 deficiency Inflammatory bowel disease due to IL10 receptor deficiency Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory pseudotumor of kidney Inflammatory pseudotumor of liver Inflammatory pseudotumor of lung Inflammatory pseudotumor of orbit Inflammatory pseudotumor of spleen Inflammatory/autoimmune disorder involving the lacrimal system Infundibulo-neurohypophysitis Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing lymphoproliferative syndrome Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited digestive cancer-predisposing syndrome Inherited epidermodysplasia verruciformis Inherited epidermolysis bullosa Inherited gynecological cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome Inherited human prion disease Inherited ichthyosis Inherited ichthyosis syndromic form Inherited isolated adrenal insufficiency due to STAR deficiency Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, biventricular form Inherited isolated arrhythmogenic cardiomyopathy, left dominant form Inherited isolated arrhythmogenic ventricular cardiomyopathy Inherited nervous system cancer-predisposing syndrome Inherited renal cancer-predisposing syndrome Inherited retinal disorder Inherited zinc deficiency Iniencephaly Inoculation botulism INPP5K-related syndrome Insulin autoimmune syndrome Insulin Resistance Insulin-resistance syndrome type A Insulin-resistance syndrome type B Int22h1/Int22h2 mediated-Xq28 microduplication syndrome Integrinopathy Intellectual disability associated with fragile site FRAXE Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability, Buenos-Aires type Intellectual disability, Mietens-Weber type Intellectual disability, Wolff type Intellectual disability-alacrima-achalasia syndrome Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome Intellectual disability-craniofacial dysmorphism-cardiac defect syndrome Intellectual disability-craniofacial dysmorphism-short stature syndrome Intellectual disability-craniofacial dysmorphism-skeletal anomalies syndrome Intellectual disability-epilepsy-movement disorder syndrome Intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Intellectual disability-facial dysmorphism-skeletal anomalies syndrome Intellectual disability-hearing loss syndrome Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intellectual disability-macrocephaly syndrome Intellectual disability-microcephaly syndrome Intellectual disability-motor delay syndrome Intellectual disability-myopathy syndrome Intellectual disability-ocular anomalies syndrome Intellectual disability-spasticity syndrome Interatrial communication Intercostal nerve syndrome Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency Interleukin-2 receptor alpha chain deficiency Intermediate atrioventricular septal defect Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Intermediate Charcot-Marie-Tooth disease Intermediate collagen VI-related muscular dystrophy Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate generalized junctional epidermolysis bullosa Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate uveitis Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Intermittent Claudication Intermittent hydrarthrosis Intermittent maple syrup urine disease Internal carotid absence Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interstitial lung disease Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to NKX2-1 mutation Interstitial lung disease due to surfactant protein B deficiency Interstitial lung disease due to surfactant protein C deficiency Interstitial pneumonia with autoimmune features Interstitial pulmonary fibrosis associated with telomerase defect Intervertebral Disc Rupture Intestinal duplication Intestinal epithelial dysplasia Intestinal epithelial dysplasia, syndromic form Intestinal failure Intestinal lymphangiectasia Intestinal malrotation Intestinal neuronal dysplasia Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intestinal pseudo-obstruction Intestinal pseudo-obstruction, chronic idiopathic Intestinal pseudo-obstruction, familial visceral myopathy type Intestinal pseudo-obstruction, familial visceral neuropathy type Intestinal vascular malformation Intracranial aneurysm, familial Intracranial calcification syndrome Intracranial germinoma Intracranial hypertension, idiopathic Intracranial lipoma Intracranial meningioma, familial Intracranial teratoma Intrauterine Growth Restriction Intrinsic factor deficiency Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease Isochromosome Y syndrome Isochromosomy Yp syndrome Isochromosomy Yq syndrome Isolated absence of both forearm and hand Isolated absence of both lower leg and foot Isolated absence of thigh and lower leg with foot present Isolated absence of upper arm and forearm with hand present Isolated absence/hypoplasia of fingers excluding thumb, unilateral Isolated acheiria Isolated acheiropodia Isolated adrenal medullary hyperplasia Isolated agenesis of gallbladder Isolated amelia of lower limb Isolated amelia of upper limb Isolated amyelia Isolated anal canal duplication Isolated angioid streaks Isolated ankyloblepharon filiforme adnatum Isolated anogenital granulomatosis Isolated anterior cervical hypertrichosis Isolated apodia Isolated arhinencephaly Isolated arrhinia Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated atrial septal defect Isolated atrioventricular block, congenital Isolated basilar invagination Isolated bilateral renal agenesis Isolated brachydactyly type A1 Isolated brachydactyly type A2 Isolated brachydactyly type A3 Isolated brachydactyly type B Isolated brachydactyly type C Isolated brachydactyly type D Isolated brachydactyly type E Isolated bronchogenic cyst Isolated congenital diaphragmatic hernia Isolated congenital ptosis Isolated congenital pulmonary airway malformation Isolated congenital tracheal stenosis Isolated coronal craniosynostosis Isolated craniosynostosis Isolated ectopia lentis Isolated familial exudative vitreoretinopathy Isolated generalized epilepsy Isolated hemihyperplasia Isolated hypogonadotropic hypogonadism Isolated lateral meningocele Isolated left bronchial isomerism Isolated left pulmonary artery sling Isolated left ventricular noncompaction Isolated levocardia Isolated lissencephaly type 1 without known genetic defects Isolated lower lip fistula Isolated lower lip pits Isolated macular dystrophy Isolated median cleft face syndrome Isolated megalencephaly Isolated megalopapilla Isolated melanocytic schwannoma Isolated melanotic schwannoma Isolated mesenteric lipodystrophy Isolated mesenteric vein thrombosis Isolated metopic and sagittal craniosynostosis Isolated metopic craniosynostosis Isolated micronodular adrenocortical disease Isolated microspherophakia Isolated mitochondrial neurosensory deafness Isolated mitochondrial neurosensory hearing loss Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated multicystic dysplastic kidney Isolated nail clubbing Isolated nephrogenic diabetes insipidus Isolated neural tube defect Isolated neuronal ceroid lipofuscinosis Isolated noncompaction cardiomyopathy Isolated oligodontia Isolated osteogenesis imperfecta Isolated partial atrioventricular septal defect Isolated patent ductus arteriosus Isolated Pierre Robin sequence with developmental delay Isolated pituitary hormone deficiency Isolated posterior cervical hypertrichosis Isolated postnatal microcephaly Isolated primary microcephaly Isolated pulmonary artery of ductal origin Isolated pulmonary capillaritis Isolated pulmonary valve stenosis Isolated pyramidal syndrome Isolated radial ray defect Isolated renal magnesium wasting Isolated rhombencephalosynapsis Isolated right atrial isomerism Isolated right ventricular hypoplasia Isolated sagittal craniosynostosis Isolated sedoheptulokinase deficiency Isolated segmental infantile hemangioma Isolated small intestine duplication Isolated splenic vein thrombosis Isolated splenogonadal fusion Isolated split hand-split foot malformation Isolated spontaneous cervical artery dissection Isolated stationary inherited retinal disorder Isolated sternocostoclavicular hyperostosis Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated tetra-amelia Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated tibial hemimelia Isolated tibio-fibular synostosis Isolated total cerebellar vermis agenesis Isolated tracheoesophageal fistula Isolated transitional filum lipoma Isolated tubular duplication of the esophagus Isolated ulnar hemimelia Isolated unilateral hemispheric cerebellar hypoplasia Isolated unisquamosal craniosynostosis Isolated unisutural craniosynostosis Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isolated vitreoretinopathy Isomerism of left atrial appendage Isosporiasis Isotretinoin syndrome Isotretinoin-like syndrome ISPD-related limb-girdle muscular dystrophy R20 ISSD ITK deficiency ITM2B amyloidosis ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement ITPN IU IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr Syndrome Jackson-Weiss Syndrome Jaffe-Campanacci Syndrome Jaffe-Lichtenstein Disease Jagell-Holmgren-Hofer Syndrome Jamaican Vomiting Sickness Jancar Syndrome Jankovic-Rivera Syndrome Jansen-de Vries Syndrome Jaw-Winking Syndrome Jawad Syndrome Jeavons Syndrome Jejunal Atresia Microcephaly Ocular Anomalies Syndrome Jessner Lymphocytic Infiltration of the Skin Johnson Neuroectodermal Syndrome Johnson Syndrome Johnson-McMillin Syndrome Johnson-Munson Syndrome Johnston-Aarons-Schelley Syndrome Joint Instability Syndrome Jones Syndrome Joubert Syndrome with Ocular Defect Joubert Syndrome with Renal Defect Joubert Syndrome with Retinopathy Juberg-Hayward Syndrome Junctional Ectopic Tachycardia Junctional Epidermolysis Bullosa, Disentis Type Junctional Epidermolysis Bullosa, Herlitz Type Junctional Epidermolysis Bullosa, non-Herlitz Localized Type Jung Syndrome Junin Hemorrhagic Fever Jussieu Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Aponeurotic Fibromatosis Juvenile Bone Cyst Juvenile Canavan Disease Juvenile Cataract Microcornea Renal Glucosuria Syndrome Juvenile Charcot Disease Juvenile CLN Disease Juvenile Dermatomyositis Juvenile Elastoma without Osteopoikilosis Juvenile Enthesitis-Related Arthritis Juvenile Gastrointestinal Polyposis Juvenile Glaucoma Juvenile GM1 Gangliosidosis Juvenile Hemochromatosis Juvenile Hyaline Fibromatosis Juvenile Idiopathic Inflammatory Myopathy Juvenile Inflammatory Arthritis Juvenile Intestinal Polyposis Juvenile Lou Gehrig Disease Juvenile Muscular Atrophy of the Distal Upper Limb Juvenile Myasthenia Gravis Juvenile Nasopharyngeal Angiofibroma Juvenile Nephronophthisis Juvenile Nephropathic Cystinosis Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Osteoporosis Juvenile Overlap Myositis Juvenile Paget Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Juvenile Periodontitis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis of Infancy Juvenile Polyposis Syndrome Juvenile Primary Lateral Sclerosis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juvenile-onset Diabetes Mellitus Central and Peripheral Neurodegeneration Syndrome Juvenile-onset Multiple Carboxylase Deficiency Juvenile-onset Myotonic Dystrophy Type 1 Juvenile-onset Steinert Disease Juvenile-onset Vitelliform Macular Dystrophy Juxtaposition of the Atrial Appendages K+-aggravated myotonia Kabuki Syndrome Kaeser syndrome Kagami-Ogata syndrome Kaler-Garrity-Stern syndrome Kallmann syndrome-heart disease syndrome Kandori fleck retina Kantaputra mesomelic dysplasia Kanzaki disease Kaplan-Plauchu-Fitch syndrome Kaposiform hemangioendothelioma Kaposiform lymphangiomatosis Kappa-chain deficiency Kapur-Toriello syndrome Karsch-Neugebauer syndrome Karyomegalic interstitial nephritis Kasabach-Merritt phenomenon KAT5-related neurodevelopmental disorder KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome KAT6A syndrome KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome Kaufman-Mckusick syndrome Kawasaki disease Kawashima syndrome Kawashima-Tsuji syndrome Kaya-Barakat-Masson syndrome Kaya-Prontera syndrome KBG syndrome KCNE1-related isolated congenital long QT syndrome KCNE2-related isolated congenital long QT syndrome KCNH2-related isolated congenital long QT syndrome KCNK9 imprinting syndrome KCNQ1-related isolated congenital long QT syndrome KCNQ2-related developmental and epileptic encephalopathy KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM5C-related syndromic X-linked intellectual disability Keasby tumor Keipert syndrome Kelley-Seegmiller syndrome Kelly-Paterson syndrome Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Keppen-Lubinsky syndrome Keratinopathic ichthyosis Keratitis fugax hereditaria Keratitis-ichthyosis-deafness syndrome Keratoconjunctivitis Sicca Keratocystic odontogenic tumor Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair Keratoderma with woolly hair type I Keratoderma with woolly hair type II Keratoderma with woolly hair type IV Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratoendotheliitis fugax hereditaria Keratolytic winter erythema Keratomycosis Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris varians of Wachters Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Keratosis palmoplantaris-corneal dystrophy syndrome Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome Keratosis palmoplantaris-esophageal syndrome Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome Keratosis pilaris atrophicans Kerion celsi Kernicterus Kernicterus spectrum disorder Kersey syndrome Ketamine-induced biliary dilatation Ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Kidney dysplasia Kidney dysplasia, bilateral Kidney dysplasia, unilateral Kidney tubulopathy-dilated cardiomyopathy syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kilquist syndrome Kimura disease Kindler epidermolysis bullosa Kindler syndrome Kinetic abnormalities of the acetylcholine receptor King-Denborough syndrome Kinsbourne syndrome Kjellin syndrome carcinoma syndrome Kjer optic atrophy Klatskin tumor Kleefstra syndrome Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Crisponi/cold induced sweating-like syndrome KLHL9-related early-onset distal myopathy KLICK syndrome Klinefelter Syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil Syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome KMT2B-related dystonia KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT5B haploinsufficiency neurodevelopmental disorder Kniest dysplasia Knobloch syndrome Knobloch-Layer syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohler disease Kohlschütter-Tönz syndrome Kok disease Kommerell diverticulum Komuragaeri disease Koolen-De Vries syndrome Kopysc-Barczyk-Krol syndrome Kosaki overgrowth syndrome Kosenow syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krasnow-Qazi syndrome Krause-Kivlin syndrome Krebs cycle disorder Kreiborg-Pakistani syndrome KRT1-related diffuse NEPPK KRT1-related diffuse nonepidermolytic keratoderma Kufor-Rakeb syndrome Kufs disease type B Kugelberg-Welander disease Kunze-Riehm syndrome Kuru Kuskokwim syndrome Kuzniecky syndrome Kynureninase deficiency Kyphomelic dysplasia Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome Kyphosis-lateral tongue atrophy myofibrillar myopathy syndrome Küttner tumor Köhlmeier-Degos disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-ferritin deficiency L-glyceric aciduria L1 syndrome La Crosse encephalitis Laband syndrome Labrune syndrome Lacrimal drainage system anomaly Lacrimal drainage system anomaly of genetic origin Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LADD syndrome Ladda-Zonana-Ramer syndrome Laing distal myopathy LAMA2-related muscular dystrophy LAMA5-related multisystemic syndrome Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related late-onset muscular dystrophy Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Laminopathy Laminopathy with lipodystrophy Laminopathy with peripheral neuropathy Laminopathy with premature aging Laminopathy with striated muscle involvement LAMM syndrome Landau-Kleffner syndrome Landing disease Lane disease Langer mesomelic dysplasia Langer-Giedion syndrome Langerhans Cell Histiocytosis Langerhans cell sarcoma Laparoschisis LARD syndrome Large cell lymphoma of the mediastinum Large granular lymphocyte leukemia Large segmental hemangioma Large/giant congenital melanocytic nevus Laron syndrome with immunodeficiency Laron-like syndrome Larsen syndrome Larsen-like osseous dysplasia-short stature syndrome Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal neuroendocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx anomaly Larynx atresia Late hereditary endothelial dystrophy Late infantile CACH syndrome Late infantile neuronal ceroid lipofuscinosis type 1 Late infantile neuronal ceroid lipofuscinosis type 10 Late infantile neuronal ceroid lipofuscinosis type 2 Late infantile neuronal ceroid lipofuscinosis type 5 Late infantile neuronal ceroid lipofuscinosis type 6 Late infantile neuronal ceroid lipofuscinosis type 8 Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset brain arteriovenous fistula Late-onset citrullinemia type 1 Late-onset combined immunodeficiency due to ICOS deficiency Late-onset combined immunodeficiency due to ICOSL deficiency Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset familial encephalopathy with neuroserpin inclusion bodies Late-onset familial hyperreninemic hypoaldosteronism Late-onset familial hypoaldosteronism Late-onset focal dermal elastosis Late-onset idiopathic chronic pancreatitis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset multiple carboxylase deficiency Late-onset myotonic dystrophy type 1 Late-onset nephronophthisis Late-onset Pompe disease Late-onset primary lymphedema without systemic or visceral involvement Late-onset retinal degeneration Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Late-onset scapuloperoneal syndrome, myopathic type Late-onset spinal arteriovenous fistula Late-onset spinal motor neuronopathy Late-onset SPMD with hyaline bodies Late-onset Tay-Sachs disease Lateral facial cleft Lateral meningocele syndrome Lathosterolosis Lattice corneal dystrophy type 1 Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome Lead poisoning Learman syndrome Leber miliary aneurysm Leber optic atrophy Leber plus disease Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left atrial isomerism Left Atrial Isomerism Left bronchial isomerism without heterotaxy Left coronary artery from right aortic sinus Left isomerism Left renal vein entrapment syndrome Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication-mirror foot syndrome Legg-Calvé-Perthes disease Legionellosis Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac Saint-Jean type Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leiner disease Leiomyomatosis peritonealis disseminata Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome LEMD2-associated nuclear envelopathy with early progeroid appearance Lenk-Ploski syndrome Lennox-Gastaut syndrome Lens position anomaly Lens position anomaly of genetic origin Lens shape anomaly Lens size anomaly Lens size anomaly of genetic origin Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia syndrome Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome LEOPARD syndrome Lepore-beta-thalassemia syndrome Leprosy Leprosy Leptomeningeal melanomatosis Leri pleonosteosis Léri-Weill dyschondrosteosis Lethal 1p36.33 deletion syndrome Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects Lethal chondrodysplasia Lethal congenital contracture syndrome Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome type 5 Lethal faciocardiomelic dysplasia Lethal fetal brain malformation duodenal atresia-bilateral renal hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis-hypoplasia syndrome Lethal hemolytic anemia-genital anomalies syndrome Lethal hydranencephaly diaphragmatic hernia syndrome Lethal hydrocephalus-cardiac malformation-dense bones syndrome Lethal hyperkeratosis-contracture syndrome Lethal infantile mitochondrial disease Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal left ventricular noncompaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal midline granuloma Lethal multiple congenital anomalies-dysmorphic syndrome Lethal multiple pterygium syndrome Lethal neonatal rigidity-multifocal seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal polymalformative syndrome, Boissel type Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia pulmonary hypoplasia syndrome Lethal tight skin-contracture syndrome Letrozole toxicity Leucoplakia - Oral / Hairy Leukaemia Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukocyte chemotactic factor-2 amyloidosis Leukodystrophy Leukodystrophy Leukodystrophy due to alkaline ceramidase 3 deficiency Leukodystrophy with oligodontia Leukoencephalopathy Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with vanishing white matter Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-metaphyseal chondrodysplasia syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levocardia Levocardia with situs inversus Levy-Hollister syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LGMD D5 collagen VI-related dystrophy LGMD R22 collagen VI-related dystrophy Lhermitte-Duclos disease Li-Fraumeni syndrome Liang-Wang syndrome Liberfarb syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen myxedematosus Lichen planopilaris Lichen planus Lichen planus pemphigoides Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichenoid melanodermatitis Lichtenstein syndrome Lichtenstein-Knorr syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Limb body wall complex Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 2X Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to BVES deficiency Limb-girdle muscular dystrophy due to BVES deficiency (BVES-related LGMD) Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 1D Limb-girdle muscular dystrophy type 1F Limb-girdle muscular dystrophy type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2B Limb-girdle muscular dystrophy type 2C Limb-girdle muscular dystrophy type 2D Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2G Limb-girdle muscular dystrophy type 2I Limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy type 2M Limb-girdle muscular dystrophy type 2N Limb-girdle muscular dystrophy type 2O Limb-girdle muscular dystrophy type 2P Limb-girdle muscular dystrophy type 2Q Limb-girdle muscular dystrophy type 2S Limb-girdle muscular dystrophy type 2T Limb-girdle muscular dystrophy type 2U Limb-girdle muscular dystrophy type 2X Limb-girdle muscular dystrophy type 2Y Limb-girdle muscular dystrophy type 2Z Limb-girdle muscular dystrophy type D4 Limb-girdle muscular dystrophy type R23 Limb-girdle muscular dystrophy type R24 Limb-girdle muscular dystrophy type R28 Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-girdle muscular dystrophy-intellectual disability syndrome Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis Limbic encephalitis-neuromyotonia syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Limit dextrinosis Limited cutaneous systemic sclerosis Limited dorsal myeloschisis Lindau disease Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear focal elastosis Linear hamartoma syndrome Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear IgA dermatosis Linear lichen planus Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome LIPE-related familial partial lipodystrophy Lipid storage disease Lipid storage myopathy Lipoamide dehydrogenase deficiency Lipoate biosynthesis defect Lipoatrophia semicircularis Lipoatrophy caused by injected drug Lipoblastoma Lipodystrophia centrifugalis abdominalis infantilis Lipodystrophy Lipodystrophy due to peptidic growth factors deficiency Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid Nephrosis Lipoid Proteinosis Lipoid proteinosis Lipoma of the filum terminale Lipomatosis dolorosa Lipomatous flat limited dorsal myeloschisis Lipomatous mesenteritis Lipomatous non-saccular limited dorsal myeloschisis Lipomucopolysaccharidosis Lipoprotein deficiency Lipoprotein glomerulopathy Lipoprotein lipase deficiency Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lipoyl transferase 2 deficiency Lisch epithelial corneal dystrophy Lisch nodules Lisch syndrome Lisker-Garcia-Ramos syndrome Lison syndrome Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, Norman Roberts type Lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 Lissencephaly type 2 with muscular and ocular involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 Lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Littoral cell angioma of the spleen Livedo racemosa-cerebrovascular accident syndrome Livedo reticularis with summer ulcerations Livedo reticularis-cerebrovascular accident syndrome Livedo-like dermatitis Livedoid vasculopathy Liver Abscess Liver adenomatosis Liver cirrhosis due to metabolic disease Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Liver Failure Liver fibrosis Liver fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Liver glycogen phosphorylase deficiency LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy Lobar holoprosencephaly Lobstein disease LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa, acral form Localized dystrophic epidermolysis bullosa, nails only Localized dystrophic epidermolysis bullosa, pretibial form Localized epidermolysis bullosa simplex Localized fibrosing scleroderma Localized intravascular coagulation Localized junctional epidermolysis bullosa Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lipodystrophy Localized pagetoid reticulosis Localized pleural mesothelioma Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Loiasis Long eyelashes-intellectual disability syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome Long QT syndrome type 1 Long QT syndrome type 2 Long QT syndrome type 3 Long QT syndrome type 5 Long QT syndrome type 6 Long QT syndrome type 7 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome Loricrin keratoderma Lou Gehrig disease Loucks-Innes syndrome Louis-Bar syndrome Low oxygen affinity alpha chain hemoglobin disease Low oxygen affinity beta chain hemoglobin disease Low oxygen affinity gamma chain hemoglobin disease Low oxygen affinity hemoglobin disease Low phospholipid-associated cholelithiasis Low resistance capillary malformation Low-flow priapism Low-flow vascular malformation of the bone Low-grade appendiceal mucinous neoplasm Low-grade astrocytoma Low-grade neuroendocrine tumor of the corpus uteri Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe-Kohn-Cohen syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower limb hypertrophy Lower limb malformation hypospadias syndrome Lower motor neuron syndrome with late-adult onset Lower urinary tract obstruction Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LQTS type 8 LRP5-related primary osteoporosis LTC4 synthase deficiency Lubag disease Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome Lucey-Driscoll syndrome Lujan-Fryns syndrome Lujo hemorrhagic fever LUMBAR syndrome Lunatomalacia Lundberg syndrome Lung agenesis-heart defect-thumb anomalies syndrome Lung Carcinoma Lung fibrosis immunodeficiency-46,XX gonadal dysgenesis syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Luscan-Lumish syndrome Luteinizing hormone-releasing hormone deficiency with ataxia Lyell syndrome Lyme borreliosis Lymphangioma Lymphatic filariasis Lymphatic-venous malformation Lymphedema with yellow nails Lymphedema-atrial septal defects-facial changes syndrome Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome Lymphedema-distichiasis syndrome Lymphedema-hypoparathyroidism syndrome Lymphedema-lymphangiectasia intellectual disability syndrome Lymphedema-posterior choanal atresia syndrome Lymphocytic hypereosinophilic syndrome Lymphocytic interstitial pneumonia Lymphocytic mastitis Lymphocytic mastopathy Lymphocytic variant HES Lymphoepithelial cyst of the pancreas Lymphoepithelial-like carcinoma Lymphogranulomatosis X Lymphoid eosinophilic syndrome Lymphoid hemopathy Lymphoid HES Lymphoid interstitial pneumonia Lymphoma Lymphoma Lymphoma Lymphomatoid granulomatosis Lymphomatoid papulosis Lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic lymphoma Lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without Immunoglobulin M production Lymphoplasmacytic sclerosing pancreatitis Lymphoproliferative disease associated with primary immune disease Lynch syndrome Lynch-Lee-Murday syndrome Lyngstadaas syndrome Lysine alpha-ketoglutarate reductase deficiency Lysosomal acid lipase deficiency Lysosomal acid phosphatase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal alpha-D-mannosidase deficiency, juvenile form Lysosomal disease Lysosomal disease with epilepsy Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy Lysosomal glycogen storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal involvement Lysosomal storage disorder due to saposin B deficiency Lysozyme amyloidosis Lysyl hydroxylase-deficient EDS Lytico-Bodig disease M hemoglobinopathy Mabry syndrome MAC Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome MacDermot-Winter syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome MACOM syndrome Macroblepharon-ectropion hypertelorism-macrostomia syndrome Macrocephalic sperm head syndrome Macrocephaly-alopecia-cutis laxa-scoliosis syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-congenital heart disease-facial dysmorphism syndrome Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Macrocephaly-cutis marmorata telangiectatica congenita syndrome Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular noncompaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome Macrocephaly-short stature-paraplegia syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macroglossia Macrophage activation syndrome Macrophage or histiocytic tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma-cleft palate-hallux valgus syndrome Maculopapular cutaneous mastocytosis MAD MAD deficiency MAD deficiency, mild type MAD deficiency, severe neonatal type MADA MADaM MADD MADD, mild type MADD, severe neonatal type MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Madelung disease Madras motor neuron disease MADSAM Madura foot MAE Maeda syndrome Maffucci syndrome Maffucci syndrome with spindle cell hemangiomas MAGIC syndrome Magnesium transporter defect-intellectual disability syndrome Magnetic gait disorder Mahvash disease Majeed syndrome Majewski osteodysplastic primordial dwarfism type II Major congenital anomaly syndrome, multiple Major depressive disorder, familial early-onset type Major histocompatibility complex class I deficiency Major histocompatibility complex class II deficiency Major omphalocele Makrydimas syndrome Mal de débarquement Mal de Meleda Malabsorption Malakoplakia Malan overgrowth syndrome Malaria, congenital Malaria, severe complicated type Malattia leventinese Male EBP disorder with neurological defects Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male infertility due to acephalic spermatozoa Male infertility due to asthenozoospermia Male infertility due to chromosome Y microdeletion Male infertility due to globozoospermia Male infertility due to gonadal dysgenesis Male infertility due to gonadal dysgenesis or sperm disorder Male infertility due to impaired sperm transport Male infertility due to impaired sperm transport of genetic origin Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to macrozoospermia Male infertility due to obstructive azoospermia Male infertility due to obstructive azoospermia of genetic origin Male infertility due to round-headed spermatozoa Male infertility due to sperm disorder Male infertility due to sperm motility disorder Male infertility due to testicular dysgenesis Male infertility due to testicular dysgenesis or sperm disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with spermatogenesis disorder Male infertility with spermatogenesis disorder due to single gene mutation Male infertility with teratozoospermia due to single gene mutation Male-limited precocious puberty Malformation of the anal canal and the rectum Malformation of the cerebellar hemispheres Malformation of the cerebellar vermis Malformation of the esophagus Malformation of the intestine Malformation of the neurenteric canal, spinal cord and column Malformation of the stomach and the duodenum Malformation syndrome Malformation syndrome with hamartosis Malformation syndrome with odontal and/or periodontal component Malformation syndrome with short stature Malformative syndrome with dentinogenesis imperfecta Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant blue nevus Malignant carcinoid syndrome Malignant chondroid syringoma Malignant cutaneous adnexal tumor, unspecified Malignant cylindroma Malignant eccrine poroma Malignant eccrine spiradenoma Malignant epithelial tumor of ovary Malignant epithelial tumor of pancreas Malignant epithelial tumor of stomach Malignant germ cell tumor of ovary Malignant germ cell tumor of testis Malignant glomus tumor Malignant granular cell tumor Malignant hidradenoma Malignant mesenchymal tumor of bladder Malignant mesenchymal tumor of uterus Malignant migrating partial seizures of infancy Malignant mixed Müllerian tumor Malignant myoepithelioma Malignant nodular hidradenoma Malignant odontogenic tumor Malignant ossifying fibromyxoid tumor Malignant otitis externa Malignant ovarian stromal tumor Malignant PEComa Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation Malignant perivascular epithelioid cell tumor Malignant pertussis Malignant pilomatricoma Malignant pleural tumor, rare type Malignant proliferating trichilemmal tumor Malignant renal epithelial tumor Malignant rhabdoid tumor Malignant rhabdoid tumor of kidney Malignant rhabdoid tumor of liver Malignant rhabdoid tumor of soft tissue Malignant smooth muscle tumor Malignant spiradenoma Malignant stromal tumor of gastrointestinal tract Malignant trichoblastoma Malignant triton tumor Malignant tumor of adrenal cortex Malignant tumor of bile duct Malignant tumor of bone, rare type Malignant tumor of brain, rare type Malignant tumor of gallbladder Malignant tumor of larynx, rare type Malignant tumor of liver, rare type Malignant tumor of lung, rare type Malignant tumor of nasal cavity Malignant tumor of pancreas, rare type Malignant tumor of paranasal sinus Malignant tumor of skin, rare type Malignant tumor of small intestine Malignant tumor of spleen Malignant tumor of thymus Malignant tumor of thyroid gland, rare type Malignant tumor of trachea Malignant tumor of ureter Malignant tumor of urethra Malignant tumor of vulva, rare type Malignant vascular tumor, rare type Mandibulo-palpebral synkinesisptosis syndrome Mandibulofacial dysostosis, Toriello type Mandibulofacial dysostosismacroblepharon-macrostomia syndrome Mandibulofacial dysostosismicrocephaly syndrome Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with postaxial limb anomalies Mandibulofacial dysostosis with preaxial limb anomalies Mandibulofacial dysostosis without limb anomalies Mandibulofacial dysostosis, GuionAlmeida type Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosidase alpha class 2B member 2-congenital disorder of glycosylation Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle zone lymphoma MAP Map-dot-fingerprint dystrophy Marbach-Rustad progeroid syndrome Marbach-Schaaf neurodevelopmental syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease MARCH syndrome Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini-Nyhan syndrome Marfan Syndrome Marfanoid craniosynostosis syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome Marfanoid habitus-inguinal herniaadvanced bone age syndrome Marfanoid syndrome, De Silva type Marginal papular palmoplantar hyperkeratosis Marginal papular palmoplantar keratoderma Marginal zone lymphoma Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marinesco-Sjögren syndrome type 2 Maroteaux type acromesomelic dysplasia Maroteaux-Lamy-like syndrome Maroteaux-type spondyloepimetaphyseal dysplasia Marrow hypoplasia with immunodeficiency syndrome Marshall syndrome Marshall-Smith syndrome Martinez-Frias syndrome MASA syndrome Mast cell leukemia Mast cell sarcoma Mastitis Mastocytoma Mastocytosis, systemic with associated hematologic neoplasm Mastocytosis, diffuse cutaneous Mastocytosis, indolent systemic Mastocytosis, smoldering systemic Mastocytosis, systemic aggressive type Mastocytosis-associated hematologic neoplasm Maternal uniparental disomy 14 syndrome Maternal uniparental disomy 15 syndrome Maternal uniparental disomy 20 syndrome Maternal uniparental disomy 7 syndrome Mathieu-De Broca-Bony syndrome Matthews syndrome May-Hegglin anomaly May-Hegglin anomaly variant May-Hegglin anomaly with Döhlelike bodies Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MBD5-associated neurodevelopmental disorder McArdle disease McArdle disease, late-onset form McArdle disease, severe infantile form McCune-Albright-like syndrome McDonough syndrome McKusick type metaphyseal chondrodysplasia McLeod neuroacanthocytosis syndrome McLeod syndrome with cardiomyopathy McLeod syndrome with cardiomyopathy and arrhythmia McLeod syndrome with hematologic and neurologic features McLeod syndrome with hematological abnormalities McLeod syndrome with multisystem involvement McLeod syndrome with neurodegeneration McLeod syndrome with neuropsychiatric features McLeod syndrome with progressive neurodegeneration McLeod syndrome McLeod syndrome with ataxia McLeod syndrome with autonomic dysfunction McLeod syndrome with behavioral disorder McLeod syndrome with cardiac involvement McLeod syndrome with chorea McLeod syndrome with cognitive impairment McLeod syndrome with dysarthria McLeod syndrome with dysphagia McLeod syndrome with dystonia McLeod syndrome with early-onset presentation McLeod syndrome with elevated creatine kinase McLeod syndrome with extrapyramidal features McLeod syndrome with hemolytic anemia McLeod syndrome with incomplete penetrance McLeod syndrome with late-onset presentation McLeod syndrome with movement disorder McLeod syndrome with muscle weakness McLeod syndrome with muscular involvement McLeod syndrome with myopathy McLeod syndrome with peripheral blood abnormalities McLeod syndrome with peripheral neuropathy McLeod syndrome with psychiatric and neurological features McLeod syndrome with psychiatric manifestations McLeod syndrome with seizures McLeod syndrome with spasticity McLeod syndrome with tremor McLeod syndrome with variable expressivity McLeod syndrome, atypical form McLeod syndrome, X-linked Meckel-like syndrome Meckel-like syndrome type 1 Meckel-like syndrome type 2 Meckel-like syndrome type 3 Meckel-like syndrome type 4 Meckel-like syndrome type 5 Meckel-like syndrome type 6 Meckel-like syndrome type 7 Meckel-like syndrome type 8 Meckel-like syndrome type 9 Meconium ileus Meconium ileus equivalent Meconium peritonitis Medial tibial stress syndrome Median arcuate ligament syndrome Median cleft lip Median cleft mandible Median facial cleft syndrome Median nail dystrophy Median raphe cyst Mediastinal non-seminomatous germ cell tumor Mediastinal Fibrosis Mediastinal germ cell tumor Mediastinal Granuloma Mediastinal seminoma Mediastinitis, chronic fibrosing type Medulloblastoma, rare subtype Meesmann corneal dystrophy Meester-Loeys syndrome MEF2C-related syndrome Mega-cisterna magna Megacalycosis Megacolon-microcephaly syndrome Megaconial congenital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-cystic leukodystrophy syndrome Megalencephaly-polymicrogyriapostaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemiaimmunodeficiency due to folate transporter 1 deficiency Megaloblastic Anaemia Megalocornea-intellectual disability syndrome Megalocornea-spherophakiasecondary glaucoma syndrome Megaoesophagus Mégarbané-Loiselet syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome MEI Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meigs syndrome MEITL Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of choroid Melanoma of soft tissue Melanoma of uvea Melanoma-astrocytoma syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS syndrome with lactic acidosis MELAS syndrome with ocular involvement MELAS syndrome with renal involvement MELAS syndrome with gastrointestinal involvement MELAS syndrome with multisystem involvement MELAS syndrome with cardiomyopathy MELAS syndrome with cardiomyopathy and arrhythmia MELAS syndrome with diabetes MELAS syndrome with endocrine dysfunction MELAS syndrome with epilepsy MELAS syndrome with hearing loss MELAS syndrome with movement disorder MELAS syndrome with myopathy MELAS syndrome with neuropathy MELAS syndrome with progressive neurodegeneration MELAS syndrome with psychiatric manifestations MELAS syndrome with stroke-like episodes MELAS syndrome, atypical form MELAS syndrome, childhood-onset type MELAS syndrome, late-onset type MELAS syndrome, maternally inherited form MELAS-like syndrome Meleda disease Melhem-Fahl syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melphalan-induced pulmonary toxicity Melphalan-related acute myeloid leukemia Melphalan-related myelodysplastic syndrome Membranoproliferative glomerulonephritis Membranous aplasia cutis congenita Membranous nephropathy, idiopathic Membranous nephropathy, secondary Membranous cataract Membranous glomerulonephritis Mendelian susceptibility to mycobacterial disease, IL-12 p40 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?1 deficiency Mendelian susceptibility to mycobacterial disease, IRF8 deficiency Mendelian susceptibility to mycobacterial disease, ISG15 deficiency Mendelian susceptibility to mycobacterial disease, NEMO deficiency Mendelian susceptibility to mycobacterial disease, STAT1 deficiency Mendelian susceptibility to mycobacterial disease, autosomal dominant form Mendelian susceptibility to mycobacterial disease, autosomal recessive form Mendelian susceptibility to mycobacterial disease, complete IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, IFN-? pathway defect, unspecified Mendelian susceptibility to mycobacterial disease, IFN-gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial disease, IL-12 receptor ?2 deficiency Mendelian susceptibility to mycobacterial disease, JAK1 deficiency Mendelian susceptibility to mycobacterial disease, JAK2 deficiency Mendelian susceptibility to mycobacterial disease, partial IFN-gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial disease, ROR?T deficiency Mendelian susceptibility to mycobacterial disease, SPPL2A deficiency Mendelian susceptibility to mycobacterial disease, TYK2 deficiency Mendelian susceptibility to mycobacterial disease, X-linked form Mendelian susceptibility to mycobacterial infections Ménétrier disease Mengel-Konigsmark syndrome Meniere's Disease Meningeal Haemorrhage Meningeal melanocytoma Meningioma Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menke-Hennekam syndrome Menstrual cycle-dependent febrile episode Menstrual cycle-dependent periodic fever MEPAN syndrome Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERS Mesangiocapillary glomerulonephritis Mesenchymal tumor of small bowel Mesenchymal tumor of small intestine Mesenchymal hamartoma of liver Mesenteric Adenitis Mesenteric lipogranuloma Mesenteric panniculitis Mesenteric Vein Thrombosis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-cleft palatecamptodactyly syndrome Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, KozlowskiReardon type Mesomelic dysplasia, Nievergelt type Mesomelic dysplasia, Reardon type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma of the tunica vaginalis Mesulam syndrome Metabolic myopathy due to carnitine palmitoyltransferase I deficiency Metabolic myopathy due to carnitine palmitoyltransferase II deficiency Metabolic myopathy due to coenzyme Q10 deficiency Metabolic myopathy due to glycerol kinase deficiency Metabolic myopathy due to mitochondrial trifunctional protein deficiency Metabolic myopathy due to mitochondrial DNA depletion syndrome Metabolic myopathy due to mitochondrial respiratory chain defect Metabolic myopathy due to multiple acyl-CoA dehydrogenase deficiency Metabolic myopathy due to neutral lipid storage disease Metabolic myopathy due to phosphoglycerate kinase deficiency Metabolic myopathy due to phosphoglycerate mutase deficiency Metabolic myopathy due to primary carnitine deficiency Metabolic neurotransmission anomaly with epilepsy Metabolic disease due to other fatty acid oxidation disorder Metabolic disease involving other neurotransmitter deficiency Metabolic disease with cataract Metabolic disease with dementia Metabolic disease with intestinal involvement Metabolic disease with skin involvement Metabolic diseases with epilepsy Metabolic myopathy Metabolic myopathy due to betaenolase deficiency Metabolic myopathy due to fatty acid oxidation disorder Metabolic myopathy due to glycogen storage disease type IX Metabolic myopathy due to glycogen storage disease type V Metabolic myopathy due to glycogen storage disease type VII Metabolic myopathy due to lactate dehydrogenase deficiency Metabolic myopathy due to lactate transporter defect Metabolic myopathy due to phosphofructokinase deficiency Metabolic myopathy due to pyruvate carboxylase deficiency Metabolic myopathy due to pyruvate dehydrogenase deficiency Metabolic myopathy due to very long-chain acyl-CoA dehydrogenase deficiency Metabolic myopathy with exercise intolerance Metabolic myopathy with recurrent rhabdomyolysis Metabolic myopathy, unspecified Metachondromatosis Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metal transport or utilization disorder with epilepsy Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Rosenberg type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal anadysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaplastic carcinoma of the breast Metastases without primary tumor Metastatic vascular neoplasm Metatropic dwarfism Metatropic dysplasia Methacrylic aciduria Methanethiol oxidase deficiency Methanol poisoning Methimazole embryofetopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Methionine adenosyltransferase I/ III deficiency Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylenetetrahydrofolate dehydrogenase 1 deficiency Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic aciduria, intermediate type Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to MMAA deficiency Methylmalonic aciduria due to MMAB deficiency Methylmalonic aciduria due to MMADHC deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria, cblD type Methylmalonic aciduria, cblH type Methylmalonic aciduria, cblX type Methylmalonic aciduria, combined type Methylmalonic aciduria, isolated type Methylmalonic aciduria, neonatal type Methylmalonic aciduria, vitamin B12-responsive type Methylmalonyl-CoA epimerase deficiency Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA racemase deficiency Methylthioadenosine phosphorylase deficiency Metronidazole neurotoxicity Metronidazole-induced encephalopathy Mevalonate kinase deficiency Mevalonic aciduria Mevalonic aciduria, mild type Mevalonic aciduria, severe type Mexican type sialidosis Mianserin-induced agranulocytosis Micrencephaly Microangiopathic hemolytic anemia Microangiopathy, retinal Microbrachycephaly-ptosis-cleft lip syndrome Microcephalic osteodysplastic primordial dwarfism type I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type III Microcephalic osteodysplastic primordial dwarfism type IV Microcephaly with early-onset seizures and developmental delay Microcephaly with spastic quadriplegia Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 1 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 10 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 11 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 12 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 13 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 14 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 15 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 2 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 25 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 26 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 27 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 28 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 29 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 3 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 34 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 35 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 36 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 37 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 38 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 39 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 4 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 40 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 5 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 6 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 7 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 8 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 9 Microcephaly with or without chorioretinopathy, lymphoedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 16 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 17 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 18 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 19 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 20 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 21 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 22 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 23 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 24 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 30 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 31 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 32 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 33 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 41 Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability type 42 Microcephaly with pontine and cerebellar hypoplasia Microcephaly with simplified gyral pattern Microcephaly-capillary malformation syndrome Microcephaly-cardiomyopathy syndrome Microcephaly-chorioretinopathy syndrome Microcephaly-corpus callosum agenesis-intellectual disability syndrome Microcephaly-deafness syndrome Microcephaly-epilepsy syndrome Microcephaly-eye anomalies syndrome Microcephaly-facial dysmorphism syndrome Microcephaly-hypogonadism syndrome Microcephaly-intellectual disability syndrome, autosomal recessive type Microcephaly-lissencephaly syndrome Microcephaly-micromelia syndrome Microcephaly-seizures syndrome Microcephaly-short stature syndrome Microcephaly-simplified gyral pattern-epilepsy syndrome Microcephaly-spastic diplegia syndrome Microcephaly-spastic quadriplegia syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-spasticity syndrome Microcoria-congenital nephrosis syndrome Microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-rod-cone dystrophycataract-posterior staphyloma syndrome Microcystic lymphatic malformation Microcystic infiltrating lymphatic malformation Microcystic stromal tumor Microcytic anemia with liver iron overload Microdeletion 22q11.2 Microdeletion 9q22.3 Microdeletion of the AZF region on the Y chromosome Microdontia-type I microtiadeafness syndrome Microduplication Xp11.22p11.23 syndrome Microduplication 17p12 Microform holoprosencephaly Microgastria-limb reduction defect syndrome Micrognathia digital syndrome Micrognathia-recurrent infectionsbehavioral abnormalities-mild intellectual disability syndrome Microlissencephaly Microlissencephaly type A Microlissencephaly-micromelia syndrome Micromelic dysplasia-dislocation of radius syndrome Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with facial clefting Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-ankyloblepharonintellectual disability syndrome Microphthalmia-anophthalmiacoloboma Microphthalmia-brain atrophy syndrome Microphthalmia-colobomarhizomelic skeletal dysplasia Microphthalmia-dermal aplasiasclerocornea syndrome Microphthalmia-microtia-fetal akinesia syndrome Microphthalmia-motor delaylanguage delay-brain anomaliesdiaphragmatic hernia syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microscopic polyangiitis Microspherophakia-metaphyseal dysplasia syndrome Microsporidiosis Microtia-aortic arch syndrome Microtia-eye colobomaimperforation of the nasolacrimal duct syndrome Microtriplication 11q24.1 syndrome Microvenular haemangioma Microvillus inclusion disease Micturation-induced seizures Mid-dermal elastolysis Middle and/or inner ear anomaly Middle aortic syndrome Middle ear neuroendocrine tumor Middle East respiratory syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Midline cerebral malformation Midline cervical cleft Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mikati-Najjar-Sahli syndrome Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Miller Fisher syndrome Mills syndrome Milroy disease Minimal change nephropathy Minimal pigment oculocutaneous albinism type 1 MIR140-related spondyloepiphyseal dysplasia MIRAGE syndrome Mirizzi syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror-image polydactyly Miscarriage Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease MISSLA MiT family translocation renal cell carcinoma Mitchell Syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial disease with epilepsy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial disease with peripheral neuropathy Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA-related dystonia Mitochondrial DNA-related mitochondrial myopathy Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial encephalo-cardiomyopathy due to isolated mitochondrial respiratory chain complex V deficiency Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial pyruvate carrier deficiency Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial substrate carrier disorder Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy Mitochondrial Disorder Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Mitochondrial encephalomyopathy- aminoacidopathy syndrome Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathycerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a largescale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial short-chain enoylCoA hydratase 1 deficiency Mitochondrial trifunctional protein deficiency Mitochondrial tryptophanyl-tRNA synthetase deficiency Mitral regurgitation-deafnessskeletal anomalies syndrome Mitral atresia Mitral Regurgitation Mitral Stenosis Mitral valve agenesis Mitral Valve Insufficiency Mitral Valve Prolapse Mitten hand Mixed autoinflammatory and autoimmune syndrome Mixed functioning pituitary adenoma Mixed AIHA Mixed connective-tissue disease Mixed cryoglobulinemia type II Mixed cryoglobulinemia type III Mixed cystic lymphangioma Mixed dermis disorder Mixed epithelial and mesenchymal cancer of cervix uteri Mixed epithelial and mesenchymal cancer of corpus uteri Mixed germ cell tumor Mixed germ cell tumor of central nervous system Mixed lineage acute leukemia Mixed Müllerian cancer of corpus uteri Mixed neuroendocrine and nonneuroendocrine neoplasm of pancreas Mixed phenotype acute leukemia with t(9;22)(q34;q11.2) Mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia, B/myeloid, NOS Mixed phenotype acute leukemia, T/myeloid, NOS Mixed polyposis syndrome Mixed-type autoimmune hemolytic anemia MKKS-related Bardet-Biedl syndrome MKS1-related Joubert syndrome MKS1-related Meckel syndrome MKX deficiency MLASA syndrome due to mitochondrial tyrosyl-tRNA synthetase deficiency MLASA syndrome due to pseudouridine synthase deficiency MLASA syndrome MMAA-related methylmalonic aciduria MMAB-related methylmalonic aciduria MMACHC-related methylmalonic aciduria with homocystinuria MMADHC-related methylmalonic aciduria with homocystinuria MMAF MME-related axonal neuropathy MME-related late-onset CharcotMarie-Tooth disease MMIHS MMIHS with congenital mydriasis MMN MNGIE syndrome Moebius syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MOGS-CDG Mohr-Tranebjaerg syndrome Molar pregnancy Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal mast cell activation syndrome Monogenic diabetes of infancy Monogenic disease with epilepsy Monogenic obesity due to a leptinmelanocortin pathway anomaly Monogenic SRNS Monomelic amyotrophy Monomorphic epitheliotropic intestinal T-cell lymphoma Mononen-Karnes-Senac syndrome Mononeuritis multiplex with brachial predilection Monosomy 10p11.21p12.31 Monosomy 10pter Monosomy 10q22.3q23.3 Monosomy 10qter Monosomy 11p13 Monosomy 11q Monosomy 11q23 deletion syndrome Monosomy 12p Monosomy 13q Monosomy 14q11.2 Monosomy 14q22q23 Monosomy 14q32 Monosomy 15q Monosomy 16p13.3 Monosomy 16q Monosomy 17p Monosomy 17p13.3 Monosomy 17q Monosomy 18p Monosomy 18q Monosomy 19p13.3 Monosomy 19q13 Monosomy 20p Monosomy 20q Monosomy 21q Monosomy 22q11.2 Monosomy 22q13 Monosomy X Monosomy X mosaicism Monosomy Xp Monostotic fibrous dysplasia Montgomery syndrome Mooren ulcer MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory disc anomaly Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan syndrome Mosaic genome-wide paternal uniparental disomy syndrome Mosaic paternal uniparental disomy of chromosome 11 Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 Mosaic variegated aneuploidy syndrome type 2 Mosaic Legius syndrome Mosaic monosomy X syndrome Mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 2 Mosaic schwannomatosis Mosaic trisomy 1 syndrome Mosaic trisomy 10 syndrome Mosaic trisomy 12 syndrome Mosaic trisomy 14 syndrome Mosaic trisomy 15 syndrome Mosaic trisomy 16 syndrome Mosaic trisomy 17 syndrome Mosaic trisomy 18 syndrome Mosaic trisomy 19 syndrome Mosaic trisomy 2 syndrome Mosaic trisomy 20 syndrome Mosaic trisomy 21 syndrome Mosaic trisomy 22 syndrome Mosaic trisomy 3 syndrome Mosaic trisomy 4 syndrome Mosaic trisomy 5 syndrome Mosaic trisomy 6 syndrome Mosaic trisomy 7 syndrome Mosaic trisomy 8 syndrome Mosaic trisomy 9 syndrome Mosaic trisomy X syndrome Mosaic trisomy Y syndrome Mosaicism with genome instability syndrome Motor Neuron Disease Mounier-Kuhn syndrome Mowat-Wilson syndrome Moyamoya angiopathy, idiopathic Moyamoya disease Moyamoya Disease Moyamoya disease with earlyonset achalasia Moynahan syndrome MPDU1-CDG MPI-CDG MRCS syndrome MSH3-related polyposis MT-ATP6-related mitochondrial spastic paraplegia MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Mu-heavy chain disease MUC1-related autosomal dominant tubulointerstitial kidney disease Mucinous adenocarcinoma of ovary Mucinous cystadenoma of childhood Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of the pancreas Mucinous tubular and spindle cell renal carcinoma Muckle-Wells syndrome Mucocutaneous venous malformations Mucocutaneous Candidiasis Mucolipidosis Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 10 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type IS Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucormycosis Mucosa-associated lymphoid tissue lymphoma Mucosulfatidosis Mucous membrane pemphigoid Mudd's disease Mueller-Weiss syndrome Mulibrey nanism Mullerian Duct Aplasia Multicentric carpotarsal osteolysis syndrome Multicentric Castleman disease Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic Dysplastic Kidney Multifocal papillary thyroid carcinoma Multifocal superficial thrombophlebitis Multifocal atrial tachycardia Multifocal epithelial hyperplasia Multifocal fibrosclerosis Multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal motor neuropathy Multifocal osteomyelitis, chronic recurrent Multifocal renal cell carcinoma Multifocal skeletal tuberculosis Multifocal vascular malformations syndrome Multifocal ventricular arrhythmia Multiglandular parathyroid disease Multiminicore disease Multinodular and vacuolating neuronal tumor Multinodular goiter Multiple congenital anomalieshypotonia-seizures syndrome Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasiamacrocephaly-facial dysmorphism syndrome Multiple epiphyseal dysplasiaminiepiphyses syndrome Multiple epiphyseal dysplasiasevere proximal femoral dysplasia syndrome Multiple isolated café-au-lait syndrome Multiple keratoacanthoma, Ferguson-Smith type Multiple mtDNA deletion syndrome Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium-malignant hyperthermia syndrome Multiple self-healing squamous epithelioma Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple acyl-CoA dehydrogenase deficiency Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 7 Multiple evanescent white dot syndrome Multiple glomus tumors Multiple hamartoma syndrome Multiple joint dislocations-short stature-craniofacial dysmorphism congenital heart defects syndrome Multiple keratoacanthoma Multiple mastocytoma Multiple metaphyseal dysplasia Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple ossifying fibroma Multiple pterygium syndrome Multiple sclerosis variant Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple venous malformations (Bean syndrome) Multisystem inflammatory syndrome in children and adults Multisystem Langerhans cell histiocytosis Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Muscle enolase deficiency Muscle filaminopathy Muscle glycogen storage disease due to phosphoglucomutase deficiency Muscle glycogen storage disease with exercise intolerance Muscle LIM protein deficiency Muscle phosphofructokinase deficiency Muscle phosphoglycerate kinase deficiency Muscle phosphoglycerate mutase deficiency Muscle weakness-intellectual disability syndrome Muscle weakness-ocular abnormalities syndrome Muscle-eye-brain disease Muscle-eye-brain disease with cerebellar cysts Muscle-eye-brain disease with cobblestone lissencephaly Muscle-type phosphofructokinase deficiency Muscular dystrophy, Duchenne type Muscular dystrophy, EmeryDreifuss type Muscular dystrophy, oculopharyngeal type Muscular dystrophy, Becker type Muscular dystrophy, limb-girdle type Muscular dystrophy-dystroglycanopathy type A Muscular dystrophy-dystroglycanopathy type B Muscular dystrophy-dystroglycanopathy type C Muscular dystrophy-dystroglycanopathy type D Muscular dystrophy-dystroglycanopathy type E Muscular dystrophy-dystroglycanopathy type F Muscular dystrophy-dystroglycanopathy type G Muscular dystrophy-dystroglycanopathy type H Muscular dystrophy-dystroglycanopathy type I Muscular dystrophy-dystroglycanopathy type J Muscular dystrophy-dystroglycanopathy type K Muscular dystrophy-dystroglycanopathy type L Muscular dystrophy-dystroglycanopathy type M Muscular dystrophy-dystroglycanopathy type N Muscular dystrophy-dystroglycanopathy type O Muscular dystrophy-dystroglycanopathy type P Muscular dystrophy-dystroglycanopathy type Q Muscular dystrophy-dystroglycanopathy type R Muscular dystrophy-dystroglycanopathy type S Muscular dystrophy-dystroglycanopathy type T Muscular dystrophy-dystroglycanopathy type U Muscular dystrophy-dystroglycanopathy type V Muscular dystrophy-dystroglycanopathy type W Muscular dystrophy-dystroglycanopathy type X Muscular dystrophy-dystroglycanopathy type Y Muscular dystrophy-dystroglycanopathy type Z Muscular hypertrophy hepatomegaly-polyhydramnios syndrome Muscular hypotonia-intellectual disability syndrome Muscular pseudohypertrophy hypothyroidism syndrome Musculoskeletal dysplasia with retinal degeneration Musculoskeletal-pulmonary insufficiency syndrome Mutase deficiency, methylmalonylCoA Myasthenia gravis, neonatal transient Myasthenia gravis with thymoma Myasthenia gravis, autoimmune Myasthenia gravis, seronegative Myasthenic syndrome due to acetylcholine receptor deficiency Myasthenic syndrome due to DOK7 deficiency Myasthenic syndrome due to MuSK deficiency Myasthenic syndrome due to rapsyn deficiency Myasthenic syndrome, congenital Myasthenic syndrome, congenital with episodic apnea Myasthenic syndrome, congenital with fast-channel defect Myasthenic syndrome, congenital with slow-channel defect MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Mycetoma Mycobacterial cutaneous infection Mycobacterial lymphadenitis Mycobacterial osteomyelitis Mycobacterium avium complex infection Mycobacterium abscessus infection Mycobacterium kansasii infection Mycobacterium marinum infection Mycophenolate mofetil embryopathy Mycophenolate-induced colitis Mycoplasma encephalitis Mycoplasma pneumoniae infection Mycoplasma-associated encephalitis Mycosis fungoides with folliculotropism Mycosis fungoides Mycosis fungoides Mycosis fungoides and variants Mycosis fungoides, Alibert-Bazin type Mycosis fungoides, erythrodermic type Mycosis fungoides-associated follicular mucinosis Mycotic keratitis Myelic limited dorsal malformation Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelitis Myelocerebellar disorder Myelocystocele Myelodysplasia-infection restriction of growth-adrenal hypoplasiagenital anomalies-enteropathy syndrome Myelodysplastic neoplasm with increased blasts Myelodysplastic neoplasm with increased blasts type 1 Myelodysplastic neoplasm with increased blasts type 2 Myelodysplastic neoplasm with low blasts Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastic Syndrome Myelodysplastic/ myeloproliferative disease Myeloid hemopathy Myeloid sarcoma Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloma Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myeloproliferative Disease Myeloproliferative neoplasm Myeloschisis MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myiasis MYO5B-related progressive familial intrahepatic cholestasis Myoadenylate deaminase deficiency Myocardial Fibrosis Myocardial Infarction Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic epilepsy of infancy Myoclonus epilepsy and ataxia due to potassium channel mutation Myoclonus-cerebellar ataxiadeafness syndrome Myoclonus-dystonia syndrome Myoclonus-nephropathy syndrome Myofibrillar myopathy Myofibrillar myopathy with early respiratory failure Myofibrillar myopathy-rimmed vacuoles type 13 Myofibrillar myopathy-titinopathy Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally cross-linked tubular arrays Myopathy with rimmed ubiquitin-positive autophagic vacuolation Myopathy, lactic acidosis and sideroblastic anemia Myopathy-Moebius-Robin syndrome Myopericytoma Myophosphorylase deficiency Myosclerosis Myosin storage myopathy Myositis tropicans Myospherulosis Myotilinopathy Myotonia fluctuans Myotonia permanens Myotonia-intellectual disability-skeletal anomalies syndrome Myotonia-painful contractions syndrome Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 MYRF-related cardiac urogenital syndrome MYSM1 deficiency MYT1L-associated neurodevelopmental disorder MYT1L-related developmental delay-intellectual disability-obesity syndrome Myxofibrosarcoma Myxoid leiomyosarcoma Myxoid malignant fibrous histiocytoma Myxoid neurofibroma Myxoid pleomorphic liposarcoma Myxoid solitary fibrous tumor Myxoid/round cell liposarcoma Myxoinflammatory fibroblastic sarcoma Myxoma of heart Myxoma with fibrous dysplasia Myxoma-spotty pigmentation-endocrine overactivity syndrome Myxomatous mitral valve disease Myxomatous tumor syndrome Myxopapillary ependymoma N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1-phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency N-methyl-D-aspartate receptor encephalitis Na channel myasthenia Na-H exchanger 3 deficiency Nabais Sa-de Vries type 1 syndrome Nabais Sa-de Vries type 2 syndrome Nablus mask-like facial syndrome NAD(P)HX dehydratase deficiency NAD(P)HX epimerase deficiency Naegeli-Franceschetti-Jadassohn syndrome Naevus syringocystadenomatosus papilliferus NAGA deficiency Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail anomaly Nail-patella syndrome Nail-patella-like renal disease Naito-Oyanagi disease Nakagawa angioblastoma Nakamura-Osame syndrome Nance-Horan syndrome Nanophthalmos Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Narcissistic Personality Disorder Narcolepsy Narcolepsy type 1 Narcolepsy type 2 NARP syndrome Nasal dermoid sinus cyst Nasal dorsum fistula Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasolacrimal mucocele Nasopalpebral lipoma-coloboma syndrome Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NCKAP1L-associated hyperinflammatory disorder NDE1-related microhydranencephaly Near total absence of cerebellum Nebulin-related early-onset distal myopathy Necrobiosis lipoidica Necrobiotic xanthogranuloma Necrolytic acral erythema Necrolytic Migratory Erythema Necrotizing autoimmune myositis Necrotizing cellulitis Necrotizing enterocolitis Necrotizing fasciitis Necrotizing myositis Necrotizing soft tissue infection NEDMABA disorder NEK9-related lethal skeletal dysplasia Nelson syndrome Nemaline myopathy NEMO deleted exon 5 autoinflammatory syndrome Neonatal acute respiratory distress due to surfactant protein deficiency Neonatal adrenoleukodystrophy Neonatal alloimmune neutropenia Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonatal compartment syndrome Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes mellitus Neonatal encephalomyopathy cardiomyopathy-respiratory distress syndrome Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Neonatal focal intestinal perforation Neonatal glycine encephalopathy Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal renal venous thrombosis Neonatal Schwartz-Jampel syndrome Neonatal scleroderma Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal Volkmann ischemic contracture syndrome Neonatal-onset epilepsy syndrome Neonatal-onset multisystem inflammatory disease Neonatal-onset spinal arteriovenous fistula Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Neonate - Low Apgar Score Neonate - Post Term Neoplastic hypereosinophilic syndrome Nephritis Nephroblastoma Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephronophthisis Nephronophthisis Nephronophthisis with retinal dystrophy Nephronophthisis-hepatic fibrosis syndrome Nephropathy-deafness hyperparathyroidism syndrome Nephrosis-neuronal dysmigration syndrome Nephrotic Syndrome Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Nestor-Guillermo progeria syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neural tube defect Neuralgic amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency Neuroacanthocytosis Neurocutaneous melanocytosis Neurocutaneous syndrome with epilepsy Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegeneration-spasticity cerebellar atrophy-cortical visual impairment syndrome Neurodegenerative disease with chorea Neurodegenerative disease with dementia Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Neurodevelopmental delaycongenital heart defects-intellectual disability syndrome Neurodevelopmental delayhypotonia-cerebellar ataxia-cardiac conduction defects syndrome Neurodevelopmental delayhypotonia-cerebellar atrophy-cardiac conduction defects syndrome Neurodevelopmental delayintellectual disability-ataxia-feeding difficulty syndrome Neurodevelopmental delayintellectual disability-skeletal defects syndrome Neurodevelopmental delayseizures-ophthalmic anomalies-osteopeniacerebellar atrophy syndrome Neurodevelopmental disorder due to KDM2B-CxxC domain mutation Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Neurodevelopmental disorder with hearing loss and spastic quadriplegia Neurodevelopmental disorder-slitlike lateral ventricles-intellectual disability syndrome Neurodevelopmental disorderbrain malformation-facial dysmorphismbrachydactyly syndrome Neurodevelopmental disordercraniofacial dysmorphism-cardiac defectskeletal anomalies syndrome Neurodevelopmental disorderhypotonia-stereotypic hand movementsimpaired language Neurodevelopmental disordermicrocephaly-arthrogryposis-structural brain anomalies Neurodevelopmental disorderspasticity-movement disorder-epileptic syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroendocrine carcinoma of pancreas Neuroendocrine cell hyperplasia of infancy Neuroendocrine neoplasm Neuroendocrine neoplasm of appendix Neuroendocrine neoplasm of esophagus Neuroendocrine neoplasm of pancreas Neuroendocrine neoplasm of the colon Neuroendocrine neoplasm of the small intestine Neuroendocrine Tumor Neuroendocrine tumor of anal canal Neuroendocrine tumor of pancreas Neuroendocrine tumor of small bowel Neuroendocrine tumor of stomach Neuroendocrine tumor of the colon Neuroendocrine tumor of the rectum Neuroendocrine tumor with other location Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis schwannomatosis Neurofibromatosis type 1 Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia-retinitis pigmentosa syndrome Neurogenic scapuloperoneal amyotrophy, New England type Neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic thoracic outlet syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurological channelopathy due to genetic calcium channel defect Neurological channelopathy due to genetic chloride channel defect Neurological channelopathy due to genetic GABA receptor defect Neurological channelopathy due to genetic glycine receptor defect Neurological channelopathy due to genetic potassium channel defect Neurological channelopathy due to genetic sodium channel defect Neurological muscular channelopathy due to genetic calcium channel defect Neurological muscular channelopathy due to genetic chloride channel defect Neurological muscular channelopathy due to genetic potassium channel defect Neurological muscular channelopathy due to genetic ryanodine receptor defect Neurological muscular channelopathy due to genetic sodium channel defect Neurolymphomatosis Neurometabolic disease Neurometabolic disorder due to serine deficiency Neuromuscular disease with dilated cardiomyopathy Neuromuscular junction disease Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis type 1 Neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis type 11 Neuronal ceroid lipofuscinosis type 12 Neuronal ceroid lipofuscinosis type 13 Neuronal ceroid lipofuscinosis type 14 Neuronal ceroid lipofuscinosis type 2 Neuronal ceroid lipofuscinosis type 3 Neuronal ceroid lipofuscinosis type 4 Neuronal ceroid lipofuscinosis type 5 Neuronal ceroid lipofuscinosis type 6 Neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis type 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuronal tumor Neurooculocardiogenitourinary syndrome Neuropathy with hearing impairment Neuropathy-ataxia-retinitis pigmentosa syndrome Neuroretinitis Neurosensory deafness with dilated cardiomyopathy Neurotrophic keratitis Neurovascular malformation Neutral lipid storage disease Neutral lipid storage disease type M Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with severe cardiovascular involvement Neutropenia-monocytopenia deafness syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevoid basal cell carcinoma syndrome Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn Nevus sebaceus syndrome New-onset refractory status epilepticus Nezelof syndrome NF-kappa-B essential modulator deleted exon 5 autoinflammatory syndrome NFAT5 haploinsufficiency NFKB1-related immune dysregulation NFU1 deficiency NGLY1 deficiency NHEJ1 deficiency Nicolaides-Baraitser syndrome Nicolau syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Nievergelt syndrome Night blindness-skeletal anomalies-dysmorphism syndrome Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder NIK deficiency Nipah encephalitis Nipah virus disease NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK/T-cell lymphoma NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease NMDA receptor encephalitis Nodal marginal zone B-cell lymphoma Nodal T-cell lymphoma with TFH phenotype Nodal T-follicular helper cell lymphoma, follicular type Nodal TFH lymphoma, follicular type Nodular cutaneous amyloidosis Nodular fasciitis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular urticaria pigmentosa Noma NOMID syndrome Non-24-hour sleep-wake syndrome Non-acquired isolated growth hormone deficiency Non-acquired panhypopituitarism Non-alcoholic Fatty Liver Disease Non-amyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-central nervous systemlocalized embryonal carcinoma Non-cerebral juvenile Gaucher disease Non-cirrhotic portal vein thrombosis Non-classic congenital lipoid adrenal hyperplasia due to STAR deficiency Non-deforming osteogenesis imperfecta Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-dystrophic myopathy Non-epithelial cancer of ovary Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-fibrotic hypersensitivity pneumonitis Non-fluent variant primary progressive aphasia Non-functioning pancreatic neuroendocrine tumor Non-functioning paraganglioma Non-functioning pituitary adenoma Non-functioning welldifferentiated pancreatic neuroendocrine neoplasm Non-genetic central precocious puberty in male Non-hereditary degenerative ataxia Non-hereditary retinoblastoma Non-HFE-related hemochromatosis Non-histaminic angioedema Non-Hodgkin lymphoma Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis Non-immune hydrops fetalis Non-infectious anterior uveitis Non-inflammatory peeling skin syndrome type A Non-inflammatory vasculopathy Non-insulinoma pancreatogenous hypoglycemia syndrome Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Langerhans cell histiocytosis Non-malignant non-cirrhotic portal vein thrombosis Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-paraneoplastic sensory ganglionopathy Non-paraneoplastic sensory neuronopathy Non-phenylketonuric non-BH4deficiency hyperphenylalaninemia Non-pneumonic Legionnaires disease Non-progressive cerebellar ataxiaintellectual disability syndrome Non-progressive epilepsy and-or ataxia with myoclonus as a major feature Non-recovering obstetric brachial plexus lesion Non-rhizomelic chondrodysplasia punctata Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-severe combined immunodeficiency Non-specific autoimmune cerebellar ataxia Non-specific early-onset epileptic encephalopathy Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-specific myositis Non-specific syndromic intellectual disability Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic agammaglobulinemia Non-syndromic amelia Non-syndromic anal stenosis Non-syndromic anorectal malformation Non-syndromic anterior synostotic plagiocephaly Non-syndromic biliary atresia Non-syndromic brain malformation Non-syndromic central nervous system malformation Non-syndromic cloacal malformation Non-syndromic congenital bronchial anomaly Non-syndromic congenital bronchial atresia Non-syndromic congenital phagocyte functional defect Non-syndromic congenital sodium diarrhea Non-syndromic constitutional thrombocytopenia Non-syndromic craniosynostosis Non-syndromic dentinogenesis imperfecta Non-syndromic diaphragmatic or abdominal wall malformation Non-syndromic diaphragmatic or thoracic malformation Non-syndromic esophageal malformation Non-syndromic gastrointestinal malformation Non-syndromic genetic hearing loss (DFNA/DFNB/DFNX) Non-syndromic heritable thoracic aortic disease Non-syndromic hypogammaglobulinemia Non-syndromic intercalary limb defect Non-syndromic intestinal malformation Non-syndromic joint formation defect Non-syndromic lambdoid craniosynostosis Non-syndromic limb hypoplasia Non-syndromic limb overgrowth Non-syndromic limb reduction defect Non-syndromic longitudinal limb defect Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis Non-syndromic multiple suture synostosis Non-syndromic polydactyly Non-syndromic pontocerebellar hypoplasia Non-syndromic postaxial polydactyly Non-syndromic posterior hypospadias Non-syndromic preaxial polydactyly Non-syndromic renal tract malformation Non-syndromic reticular dysgenesis Non-syndromic retinal nonattachment Non-syndromic sagittal craniosynostosis Non-syndromic single suture synostosis Non-syndromic syndactyly Non-syndromic terminal transverse limb defect Non-syndromic thrombocytopenia Non-syndromic unicoronal craniosynostosis Non-syndromic urogenital tract malformation Non-syndromic uterovaginal malformation Non-syndromic vestibular fistula Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Non-terminal myelocystocele Non-transfusion dependent betathalassemia Non-transplant-related bronchiolitis obliterans Non-tuberculous mycobacterial extrapulmonary disease Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonmosaic Legius syndrome Nonmosaic neurofibromatosis type 1 Nonmosaic neurofibromatosis type 2-related schwannomatosis Nonmosaic schwannomatosis Nonne-Milroy lymphedema Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Norman-Landing disease Normomorphic sialidosis Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 North Sea progressive myoclonus epilepsy Northern epilepsy Norum disease Notochordal sarcoma NR1H4 deficiency NR4A2-related neurodevelopmental syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleepwake cycle disturbance NSD2-related syndrome NTHL1-related adenomatous polyposis NTHL1-related polyposis Nuclear factor kappa B subunit 1related immune dysregulation Nude/severe combined immunodeficiency Null cell pituitary adenoma Null pituitary adenoma Null syndrome NUT midline carcinoma O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia OAV spectrum Oberklaid-Danks syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to prohormone convertase I deficiency Obesity due to proopiomelanocortin deficiency Obesity due to SIM1 deficiency Obesity-colitis-hypothyroidism cardiac hypertrophy-developmental delay syndrome Oblique facial cleft Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obsessive-Compulsive Disorder (OCD) Obstructed hemivagina and ipsilateral renal anomaly Obstructive Uropathy Occipital atretic cephalocele unusual facies-large feet syndrome Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Occult spina bifida Ochoa syndrome Ocular albinism Ocular albinism Nettleship-Falls type Ocular albinism type 1 Ocular albinism with late-onset sensorineural hearing loss Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cicatricial pemphigoid Ocular cystinosis Ocular motor apraxia, Cogan type Ocular siderosis Ocular surface squamous neoplasia Ocular-scoliotic Ehlers-Danlos syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital dysplasia Oculo-digito-esophageal-duodenal syndrome Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculoauricular syndrome Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral spectrum with radial defects Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocutaneous Albinism Oculocutaneous albinism Amish type Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type 8 Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd type Oculodentodigital syndrome Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculogastrointestinal neurodevelopmental syndrome Oculomandibulofacial syndrome Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia Oculoosteocutaneous syndrome Oculootodental syndrome Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculoskeletodental syndrome Oculotrichoanal syndrome Oculotrichodysplasia Odonto-onycho dysplasia alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digitopalmar syndrome Odontochondrodysplasia Odontogenic keratocystoma Odontohypophosphatasia Odontoleukodystrophy Odontomatosis-aortae esophagus stenosis syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome OEIS complex Oesophageal atresia Oesophageal Diverticuli Oesophageal Obstruction Oesophagitis Ofuji disease Ogden syndrome Oguchi disease Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohtahara syndrome Okamoto syndrome Okihiro syndrome Okur-Chung neurodevelopmental syndrome Olfactory neuroblastoma Oligoastrocytoma Oligocone trichromacy Oligodendroglioma Oligodontia Oligomeganephronia Oligophrenin-1 syndrome Oligosaccharidosis Oliver-McFarlane syndrome Olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome Omenn syndrome Omodysplasia Omphalocele syndrome, Shprintzen-Goldberg type Omphalocele-cloacal exstrophy imperforate anus-spinal defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalomesenteric cyst Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine-Hirschsprung syndrome Onycho-digito-mammary syndrome Onychocytic matricoma Onychomatricoma Onychoosteodysplasia Oophoritis Opalescent teeth without osteogenesis imperfecta OPD I syndrome OPD II syndrome OPD spectrum disorder Open iniencephaly Open spina bifida Open spinal dysraphism Open spinal dysraphism with a myelomeningocele Open spinal dysraphism with a posterior meningocele Open split-cord malformation Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia-hypotonia ataxia-hypoacusis-athetosis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Opitz BBB/G syndrome Opitz C trigonocephaly syndrome Opitz-Kaveggia syndrome Oppenheim dystonia Oppenheim-Urbach disease Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxia simultanagnosia syndrome Optic atrophy plus syndrome (Behr syndrome) Optic atrophy type 1 Optic atrophy type 2 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-deafness polyneuropathy-myopathy syndrome Optic atrophy-intellectual disability syndrome Optic disc pit Optic nerve edema-splenomegaly syndrome Optic pathway glioma Oral dysesthesia Oral submucous fibrosis Oral-facial-digital syndrome Oral-facial-digital syndrome Edwards type Oral-facial-digital syndrome Gabrielli type Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome with short stature and brachymesophalangy Orbital Apex Syndrome Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Orbitofacial cleft Organoid nevus syndrome Orgasm-induced epilepsy Ormond disease Ornithine aminotransferase deficiency Ornithine carrier deficiency Ornithine decarboxylase deficiency Ornithosis Oroacral syndrome Orocraniodigital syndrome Orodynia Orofacial clefting syndrome Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Oromandibular dystonia Oromandibular-limb anomalies syndrome Oromandibular-limb hypogenesis syndrome Oropharyngeal teratoma Orotidylic decarboxylase deficiency Orthostatic intolerance due to NET deficiency Osebold-Remondini syndrome Osgood-Schlatter disease Osseous Ewing sarcoma Osseous-oculo-dental dysplasia Ossification anomalies psychomotor developmental delay syndrome Osteitis condensans of the clavicle Osteoarthritis Osteoblastoma Osteochondritis dissecans and short stature Osteochondromuscular dystrophy Osteochondrosis of genetic origin Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteofibrous dysplasia Osteogenesis imperfecta (Brittle bone disease) Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenesis imperfecta-congenital joint contractures syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteoglophonic dwarfism Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelofibrosis Osteonecrosis Osteonecrosis Osteonecrosis of genetic origin Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia Osteopenia-intellectual disability sparse hair syndrome Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteopoikilosis Osteopoikilosis-short stature intellectual disability syndrome Osteoporosis Osteoporosis of pregnancy Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoradionecrosis of the mandible Osteosarcoma Osteosarcoma-limb anomalies erythroid macrocytosis syndrome Osteosclerosis Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis premature ovarian failure syndrome Osteosclerotic bone dysplasia Osteosclerotic metaphyseal dysplasia Osteosclerotic myeloma Ostravik-Lindemann-Solberg syndrome Otitis Externa Otitis Media Otodental dysplasia Otofaciocervical syndrome Otofaciocervical syndrome type 2 Otofaciocervical syndrome with thymic hypoplasia Otofaciocervical syndrome without thymic hypoplasia Otomandibular dysplasia Otoonychoperoneal syndrome Otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTULIN-related autoinflammatory syndrome Otulipenia Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian dysgerminoma Ovarian epithelial cancer Ovarian fibroma Ovarian fibrothecoma Ovarian germ cell cancer Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant epithelial tumor Ovarian malignant mixed epithelial mesenchymal tumor Ovarian malignant mixed Mullerian tumor Ovarian malignant non-epithelial tumor Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarioleukodystrophy Overgrowth obesity syndrome Overgrowth or tall stature syndrome with skeletal involvement Overgrowth syndrome Overgrowth syndrome with 2q37 translocation Overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Overhydrated hereditary stomatocytosis Overlap myositis Overlap syndromes of autoimmune liver diseases Overlapping connective tissue disease Owren disease OXCT1 deficiency Oxoglutaric aciduria Oxoprolinuria due to oxoprolinase deficiency OXPHOS disease OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies OXPHOS disease with no known mechanism Oxysterol 7-alpha-hydroxylase deficiency Pancreatic Cysts Pancreatic Duct Obstruction Pancreatic Hyperplasia Pancreatic Neuroendocrine Tumour Pancreatitis Pancreatitis - Bacterial Parkinsonism Patent Ductus Arteriosus PCT - Type I Sporadic PCT - Type II Familial PCT - Type III PCT - Type IV Hepatoerythropoietic Porphyria PCT - Type V Toxic Porphyria Pellagra Pelvic Inflammatory Disease Peptic Ulcer Disease Pericardial Constriction Pericardial Effusion Pericarditis Peripheral Vascular Disease Peritoneal Mesothelial Tumour Peritonitis Pernicious Anaemia Perthes Disease Pfeiffer Syndrome Phaeochromocytoma Pituitary Tumour Pleural Aspergillosis Pleural Mesothelial Tumour Pleurisy Pleuritis Pneumonia Pneumonia - Aspiration Pneumonia - Bacterial Pneumonia - Haemorrhagic Pneumonia - Tuberculous Pneumonitis Pneumothorax Polyarteritis Nodosa Polycystic Ovary Syndrome Polymicrogyria Polymyalgia Rheumatica Polymyositis Polyneuritis Portal Hypertension Pott's Disease of the Spine Prader-Willi Syndrome Pre-Eclampsia Pregnancy - Cytomegalovirus Infection Premature Delivery Primary Acquired Sideroblastic Anaemia Primary Biliary Cirrhosis Primary hyperlipoproteinemia type III (Broad-beta disease) Primary Hypothyroidism Primary Small Intestinal Lymphoma - PSIL Progressive external ophthalmoplegia with riboflavin transporter deficiency (Brown-Vialetto-van Laere syndrome) Prolactinoma Prostatitis Protein Losing Enteropathy Pseudo-Obstruction Pseudomembranous Candidiasis Pseudotumour Cerebri Psoriasis Psoriatic arthropathy Pulmonary Artery Agenesis Pulmonary Artery Stenosis Pulmonary Disease - Obstructive Pulmonary Disease - Restrictive Pulmonary Embolus(i) Pulmonary Fibrosis Pulmonary Hypertension Pulmonary Interstitial Disease Pulmonary Oedema - Acute Pulmonary Regurgitation Pulmonary Valve Stenosis Pulmonary Vascular Thrombosis Purpura Fulminans Pyelonephritis Pyoarthrosis Radiculitis Radiculopathy RAEB in Transformation (RAEBIT) Ramsay Hunt Syndrome Refractory Anaemia Refractory Anaemia - Excess Blasts (RAEB) Refractory Anaemia - Ring Sideroblasts (RARS) Reiter's Syndrome Renal Abscess(es) Renal Agenesis Renal Artery Stenosis Renal Carcinoma Renal Cysts Renal Disease Renal Disease Renal Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Rickets Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Scapuloperoneal muscular dystrophy Scapuloperoneal myopathy, neurogenic type Scapuloperoneal spinal muscular atrophy Scapulothoracic dysostosis SCARF syndrome Scarring alopecia-short stature-craniofacial dysmorphism syndrome Schilder disease Schimke immuno-osseous dysplasia Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel phocomelia syndrome Schinzel syndrome Schinzel-Giedion syndrome Schizophrenia Schizophrenia Schmidt syndrome Schneckenbecken dysplasia Schnitzler syndrome Schoenlein-Henoch purpura Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 Schwartz-Jampel syndrome type 2 Scleritis Scleroderma Scleroderma, diffuse cutaneous Scleroderma, limited cutaneous Scleromyxedema Sclerosing Cholangitis Sclerosing cholangitis, primary Sclerosing mesenteritis Sclerosing osteomyelitis Sclerosing peritonitis Sclerosing skin disorders, inherited Sclerosteosis Sclerotherapy-related complications Sclerotic fibroma SCN1A-related epileptic encephalopathy SCN2A-related epileptic encephalopathy SCN8A-related epileptic encephalopathy SCN9A-related congenital insensitivity to pain Scofield syndrome SCOT deficiency Scrotal calcinosis Scrotal elephantiasis Scrotal lymphedema Scrotal melanoma Scrotal squamous cell carcinoma Sea-blue histiocyte syndrome Sebaceous carcinoma Sebaceous hyperplasia, familial Sebaceous nevus of Jadassohn syndrome Seborrheic dermatitis Seckel syndrome Secondary Acquired Sideroblastic Anaemia Secondary hemophagocytic lymphohistiocytosis Secondary hyperoxaluria Secondary lymphedema Secondary myelofibrosis Secondary pulmonary hypertension Secondary sclerosing cholangitis Secondary Sjogren syndrome Secondary syphilis Secretory carcinoma of the breast Segawa syndrome Segmental neurofibromatosis Seip-Berardinelli congenital lipodystrophy Seizures, benign familial infantile Seizures, benign familial neonatal Seizures, benign familial neonatal-infantile Seizures, familial focal with variable foci Seizures, genetic epilepsy with febrile seizures plus Seizures, neonatal severe Seizures, progressive myoclonic epilepsy Seizures, reflex epilepsy Seizures, symptomatic focal epilepsy Selenoprotein deficiency disorder Selenoprotein N-related myopathy Self-healing collodion baby Self-healing squamous epithelioma SEMDCJL1-related skeletal dysplasia Semicircular canal dehiscence syndrome Seminoma Senear-Usher syndrome Sensory ataxic neuropathy Sensory neuropathy, hereditary Sensory processing disorder Septic arthritis Septic shock Septic Shock Septicaemia Septicaemia - Gram negative Septicemia Septo-optic dysplasia Septo-optic dysplasia spectrum Septo-optic pituitary dysplasia Serine biosynthesis defect Serine deficiency disorders Serotonin syndrome Serous cystadenoma of pancreas Serpiginous choroiditis Sertoli cell tumor Sertoli-Leydig cell tumor Serum amyloid A amyloidosis SeSAME syndrome Severe achondroplasia with developmental delay and acanthosis nigricans Severe Combined Degeneration Severe combined immunodeficiency, T-B+ phenotype Severe combined immunodeficiency, T-B+NK+ phenotype Severe combined immunodeficiency, T-B+NK- phenotype Severe combined immunodeficiency, T-B- phenotype Severe combined immunodeficiency, T-B-NK+ phenotype Severe combined immunodeficiency, T-B-NK- phenotype Severe congenital neutropenia Severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to HAX1 deficiency Severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to VPS45 deficiency Severe cutaneous adverse drug reaction Severe developmental delay-epilepsy-short stature-deep set eyes syndrome Severe early-childhood-onset retinal dystrophy Severe fever with thrombocytopenia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome Severe megalencephaly-cortical malformation-capillary malformation syndrome Severe myoclonic epilepsy in infancy Severe neonatal episodic laryngospasm Severe neonatal-onset encephalopathy with microcephaly Severe persistent hyperinsulinemic hypoglycemia of infancy Severe skeletal dysplasia-intellectual disability-progeroid features syndrome Severe thrombocytopenia with Philadelphia chromosome-positive chronic myeloid leukemia Severe X-linked intellectual disability, Gustavson type Sezary Syndrome Shapiro syndrome Sharp syndrome Shashi-Pena syndrome Sheehan syndrome Sheldon-Hall syndrome Shiga toxin-associated hemolytic uremic syndrome Shigellosis Shin splints syndrome Shinzel-Giedion midface retraction syndrome Short QT syndrome Short rib-polydactyly syndrome Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short stature due to growth hormone deficiency Short stature with microcephaly and distinctive facies Short stature with pigmentary skin changes and skeletal anomalies Short stature with precocious puberty and dysmorphic features Short stature with speech delay and facial dysmorphism Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-facial dysmorphism-skeletal anomalies syndrome Short stature-hyperextensible joints-hernia-ocular depression-Rieger anomaly syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic nerve atrophy-Pelger-Huet anomaly syndrome Short stature-renal disease syndrome Short stature-skeletal anomalies-intellectual disability syndrome Short stature-slow hair growth-intellectual disability syndrome Short stature-valvular heart disease-characteristic facies syndrome Shoulder girdle myopathy Shprintzen syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg syndrome Sialadenitis, chronic recurrent Sialidosis Sialidosis type 1 Sialidosis type 2 Sicca syndrome Sickle cell disease with crisis Sickle cell-beta thalassemia Sideroblastic anemia Sideroblastic anemia, X-linked Siderosis, pulmonary SIDS Siegel syndrome Siemens syndrome Sifrim-Hitz-Weiss syndrome SIL1-related Marinesco-Sjögren syndrome Silver-Russell syndrome Simpson - Golabi - Behmel Syndrome Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinus histiocytosis with massive lymphadenopathy Sinus node dysfunction Sinus pericranii Sirenomelia SIRS Sjogren's Syndrome Sjögren syndrome with extraglandular involvement Sjögren syndrome with glandular involvement Sjögren syndrome, primary Sjögren syndrome, secondary Sjögren-Larsson syndrome Skeletal dysplasia with brachydactyly and joint laxity Skeletal dysplasia with microcephaly and intellectual disability Skeletal dysplasia-intellectual disability syndrome Skeletal muscle calcium channelopathy Skeletal muscle channelopathy Skeletal muscle chloride channelopathy Skeletal muscle potassium channelopathy Skeletal muscle ryanodine receptor channelopathy Skeletal muscle sodium channelopathy Skin - Squamous Cell Carcinoma Skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin peeling syndrome Skin peeling syndrome, acral type Skin peeling syndrome, generalized inflammatory type Skin peeling syndrome, generalized non-inflammatory type Skin peeling syndrome, localized type Skull base chordoma Skull dysplasia, familial Sleep Deprivation Slipped capital femoral epiphysis Slow channel congenital myasthenic syndrome Slow transit constipation SMARD1 Smith syndrome Smith-Magenis syndrome SMN1-related spinal muscular atrophy Smouldering multiple myeloma Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOFT syndrome Sotos syndrome type 2 Sotos syndrome type 3 Sotos-like syndrome Sowden syndrome Sparing syndrome Spastic ataxia Spastic paraplegia type 1 Spastic paraplegia type 10 Spastic paraplegia type 11 Spastic paraplegia type 12 Spastic paraplegia type 13 Spastic paraplegia type 14 Spastic paraplegia type 15 Spastic paraplegia type 16 Spastic paraplegia type 17 Spastic paraplegia type 18 Spastic paraplegia type 19 Spastic paraplegia type 2 Spastic paraplegia type 20 Spastic paraplegia type 21 Spastic paraplegia type 22 Spastic paraplegia type 23 Spastic paraplegia type 24 Spastic paraplegia type 25 Spastic paraplegia type 26 Spastic paraplegia type 27 Spastic paraplegia type 28 Spastic paraplegia type 29 Spastic paraplegia type 3 Spastic paraplegia type 30 Spastic paraplegia type 31 Spastic paraplegia type 32 Spastic paraplegia type 33 Spastic paraplegia type 34 Spastic paraplegia type 35 Spastic paraplegia type 36 Spastic paraplegia type 37 Spastic paraplegia type 38 Spastic paraplegia type 39 Spastic paraplegia type 4 Spastic paraplegia type 40 Spastic paraplegia type 41 Spastic paraplegia type 42 Spastic paraplegia type 43 Spastic paraplegia type 44 Spastic paraplegia type 45 Spastic paraplegia type 46 Spastic paraplegia type 47 Spastic paraplegia type 48 Spastic paraplegia type 49 Spastic paraplegia type 5 Spastic paraplegia type 50 Spastic paraplegia type 51 Spastic paraplegia type 52 Spastic paraplegia type 53 Spastic paraplegia type 54 Spastic paraplegia type 55 Spastic paraplegia type 56 Spastic paraplegia type 57 Spastic paraplegia type 58 Spastic paraplegia type 59 Spastic paraplegia type 6 Spastic paraplegia type 60 Spastic paraplegia type 61 Spastic paraplegia type 62 Spastic paraplegia type 63 Spastic paraplegia type 64 Spastic paraplegia type 65 Spastic paraplegia type 66 Spastic paraplegia type 67 Spastic paraplegia type 68 Spastic paraplegia type 69 Spastic paraplegia type 7 Spastic paraplegia type 70 Spastic paraplegia type 71 Spastic paraplegia type 72 Spastic paraplegia type 73 Spastic paraplegia type 74 Spastic paraplegia type 75 Spastic paraplegia type 76 Spastic paraplegia type 77 Spastic paraplegia type 78 Spastic paraplegia type 79 Spastic paraplegia type 8 Spastic paraplegia type 80 Spastic paraplegia type 81 Spastic paraplegia type 82 Spastic paraplegia type 83 Spastic paraplegia type 84 Spastic paraplegia type 85 Spastic paraplegia type 86 Spastic paraplegia type 87 Spastic paraplegia type 88 Spastic paraplegia type 89 Spastic paraplegia type 9 Spastic tetraplegia Spasticity with white matter abnormalities Spasticity, hereditary Spasticity-ataxia syndrome Spasticity-intellectual disability-seizures syndrome Spasticity-paraplegia-neuropathy syndrome Speckled lentiginous nevus syndrome Speech delay-intellectual disability syndrome Speech sound disorder Spherocytosis, hereditary Spherophakia Sphingolipidosis Sphingomyelin lipidosis Sphingomyelinase deficiency Spina bifida Spina bifida occulta Spinal and bulbar muscular atrophy Spinal arteriovenous malformation Spinal cord astrocytoma Spinal cord compression Spinal Cord Compression Spinal cord ependymoma Spinal cord injury Spinal cord ischemia Spinal cord malformation Spinal cord tumor Spinal dysraphism Spinal Epidural Abscess Spinal epidural lipomatosis Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, congenital with arthrogryposis Spinal muscular atrophy, distal Spinal muscular atrophy, distal hereditary motor neuropathy type Spinal muscular atrophy, juvenile Spinal muscular atrophy, non-5q type Spinal muscular atrophy, type 0 Spinal muscular atrophy, type 1 Spinal muscular atrophy, type 2 Spinal muscular atrophy, type 3 Spinal muscular atrophy, type 4 Spinal muscular atrophy, X-linked Spinal neurofibromatosis Spinal osteochondroma Spinal osteosarcoma Spinal paraganglioma Spinal schwannoma Spinal stenosis Spinal subdural hematoma Spinal subependymoma Spinal teratoma Spinal tuberculosis Spinal vascular malformation Spinal vascular tumor Spinalis muscle myopathy Spindle cell carcinoma Spindle cell hemangioma Spindle cell lipoma Spindle cell melanoma Spindle cell oncocytoma of the pituitary gland Spindle cell sarcoma Spine Abscess Spinocerebellar Ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 22 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 24 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27A Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 33 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 39 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 44 Spinocerebellar ataxia type 45 Spinocerebellar ataxia type 46 Spinocerebellar ataxia type 47 Spinocerebellar ataxia type 48 Spinocerebellar ataxia type 49 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 50 Spinocerebellar ataxia type 51 Spinocerebellar ataxia type 52 Spinocerebellar ataxia type 53 Spinocerebellar ataxia type 54 Spinocerebellar ataxia type 55 Spinocerebellar ataxia type 56 Spinocerebellar ataxia type 57 Spinocerebellar ataxia type 58 Spinocerebellar ataxia type 59 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 60 Spinocerebellar ataxia type 61 Spinocerebellar ataxia type 62 Spinocerebellar ataxia type 63 Spinocerebellar ataxia type 64 Spinocerebellar ataxia type 65 Spinocerebellar ataxia type 66 Spinocerebellar ataxia type 67 Spinocerebellar ataxia type 68 Spinocerebellar ataxia type 69 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 70 Spinocerebellar ataxia type 71 Spinocerebellar ataxia type 72 Spinocerebellar ataxia type 73 Spinocerebellar ataxia type 74 Spinocerebellar ataxia type 75 Spinocerebellar ataxia type 76 Spinocerebellar ataxia type 77 Spinocerebellar ataxia type 78 Spinocerebellar ataxia type 79 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 80 Spinocerebellar ataxia type 81 Spinocerebellar ataxia type 82 Spinocerebellar ataxia type 83 Spinocerebellar ataxia type 84 Spinocerebellar ataxia type 85 Spinocerebellar ataxia type 86 Spinocerebellar ataxia type 87 Spinocerebellar ataxia type 88 Spinocerebellar ataxia type 89 Spinocerebellar ataxia type 9 Spinocerebellar ataxia type 90 Spinocerebellar ataxia type 91 Spinocerebellar ataxia type 92 Spinocerebellar ataxia type 93 Spinocerebellar ataxia type 94 Spinocerebellar ataxia type 95 Spinocerebellar ataxia type 96 Spinocerebellar ataxia type 97 Spinocerebellar degeneration with peripheral neuropathy Spinocerebellar degeneration, autosomal dominant Spinocerebellar degeneration, autosomal recessive Spinocerebellar syndrome with epilepsy Spinocerebellar syndrome with pyramidal signs Spinocerebellar syndrome with retinal degeneration Spinocerebellar syndrome with sensorineural hearing loss Spinocerebellar syndrome with spasticity Spitz nevus Splenic abscess Splenic artery aneurysm Splenic cyst Splenic marginal zone lymphoma Splenic Rupture Splenic sequestration crisis Splenic vein thrombosis Splenomegaly with cytopenia syndrome Splenomegaly, hereditary Split hand/foot malformation Split hand/foot malformation type 1 Split hand/foot malformation type 2 Split hand/foot malformation type 3 Split hand/foot malformation type 4 Split hand/foot malformation type 5 Split hand/foot malformation type 6 Split hand/foot malformation type 7 Split hand/foot malformation type 8 Split hand/foot malformation with long bone deficiency Split hand/foot malformation with tibial aplasia Split notochord syndrome Splitting of the spinal cord Spondyloarthritis Spondyloarthritis associated with inflammatory bowel disease Spondyloarthritis, undifferentiated Spondyloarthropathy Spondyloarthropathy, axial Spondyloarthropathy, peripheral Spondylocostal dysostosis Spondylocostal dysostosis type 1 Spondylocostal dysostosis type 10 Spondylocostal dysostosis type 11 Spondylocostal dysostosis type 12 Spondylocostal dysostosis type 13 Spondylocostal dysostosis type 14 Spondylocostal dysostosis type 15 Spondylocostal dysostosis type 16 Spondylocostal dysostosis type 17 Spondylocostal dysostosis type 18 Spondylocostal dysostosis type 19 Spondylocostal dysostosis type 2 Spondylocostal dysostosis type 20 Spondylocostal dysostosis type 3 Spondylocostal dysostosis type 4 Spondylocostal dysostosis type 5 Spondylocostal dysostosis type 6 Spondylocostal dysostosis type 7 Spondylocostal dysostosis type 8 Spondylocostal dysostosis type 9 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, tarda X-linked Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia with cone-rod dystrophy Spondylometaphyseal dysplasia with dentinogenesis imperfecta Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, axial type Spondylometaphyseal dysplasia, corner fracture type Spondylometaphyseal dysplasia, filamin A type Spondylometaphyseal dysplasia, handigodu type Spondylometaphyseal dysplasia, Japanese type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, plasmalemma vesicle-associated protein type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, short limb type Spondylometaphyseal dysplasia, short limb-abnormal calcification type Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, with corneal dystrophy Spondylometaphyseal dysplasia, with dentinogenesis imperfecta Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-corneal dystrophy syndrome Spondyloperipheral dysplasia Spondyloperipheral dysplasia-short ulna syndrome Spondylothoracic dysostosis Spondylothoracic dysostosis, autosomal recessive Spongiform leukoencephalopathy with chronic euphoria Spontaneous Abortion Spontaneous coronary artery dissection Spontaneous intracranial hypotension Spontaneous periodic hypothermia Spontaneous pneumothorax Spontaneous splenic rupture Spotted fever rickettsiosis Sprengel deformity Sprinz-Nelson syndrome SPTLC1-related hereditary sensory and autonomic neuropathy SQUAMOS syndrome Squamous cell carcinoma of the conjunctiva Squamous cell carcinoma of the eyelid Squamous cell carcinoma of the lip Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the skin Squamous odontogenic tumor SRD5A3-congenital disorder of glycosylation SRSF2-related myelodysplastic syndrome SSADH deficiency SSPE Staphylococcal scalded skin syndrome Stargardt disease Stargardt disease type 1 Stargardt disease type 3 Starvation ketoacidosis Static encephalopathy Steatocystoma multiplex Steele-Richardson-Olszewski syndrome Steinert disease Stenosis of aqueduct of Sylvius Stenotrophomonas maltophilia infection Stensen duct obstruction Sterility - Female Sterility - Male Steroid-resistant nephrotic syndrome Steroid-sensitive nephrotic syndrome Stevens Johnson Syndrome Stevens-Johnson syndrome Stewart-Treves syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stiff skin syndrome Still disease, adult-onset Stomatin-deficient cryohydrocytosis Stomatocytosis, dehydrated hereditary Stomatocytosis, overhydrated hereditary Stormorken syndrome Stromme syndrome Sturge-Weber syndrome Stuve-Wiedemann syndrome Subacute Combined Degeneration of Cord Subacute sclerosing panencephalitis Subacute Sclerosing Panencephalitis - SSPE Subaortic stenosis, discrete Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical laminar heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Subependymal heterotopia Subependymal nodular heterotopia Subependymal nodules Subependymoma Subungual exostosis Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital Sudanophilic leukodystrophy Sudden infant death syndrome Sudden unexplained death in epilepsy Sudden unexplained nocturnal death syndrome Sulfite oxidase deficiency Sulfite Oxidase Deficiency Sulfite oxidase deficiency, isolated Sulfoglucuronosyl paragloboside ceramide lipidosis Sulfur amino acid metabolism disorder Superior mesenteric artery syndrome Superior Vena Caval Obstruction Supranuclear gaze palsy Supratentorial primitive neuroectodermal tumor Surfactant metabolism dysfunction, pulmonary Surfactant protein B deficiency Surfactant protein C deficiency Surfactant protein deficiency, congenital Susac syndrome Sweet syndrome Swyer syndrome Swyer-James-MacLeod syndrome Sydenham chorea Sydenham's Chorea Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Symphalangism with multiple anomalies of hands and feet Symphalangism, distal Symphalangism, proximal Synapsin-related neurodevelopmental disorder Syncope, catecholaminergic polymorphic ventricular tachycardia-related Syndromic craniosynostosis Syndromic deafness Syndromic intellectual disability Syndromic microphthalmia Syndromic obesity Syndromic oculocutaneous albinism Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic outer canthal malposition Syndromic palpebral coloboma Syndromic recessive X-linked ichthyosis Syndromic renal or urinary tract malformation Syndromic respiratory or mediastinal malformation Syndromic retinal dystrophy Syndromic rod-cone dystrophy Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic telecanthus Syndromic urogenital tract malformation Syndromic uterovaginal malformation Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen Syndromic vitreoretinopathy Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related arthrogryposis multiplex congenita SYNGAP1-related developmental and epileptic encephalopathy Syngnathia-cleft palate syndrome Syngnathia-multiple anomalies syndrome Synovial chondromatosis Synovial sarcoma Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synspondylism Syntelencephaly Syringocystadenoma papilliferum Systemic AL amyloidosis Systemic autoimmune disease Systemic autoinflammatory disease due to NEMO exon 5 deletion Systemic candidiasis Systemic capillary leak syndrome Systemic disease with glomerulopathy as a major feature Systemic disease with skin involvement Systemic diseases with anterior uveitis Systemic diseases with panuveitis Systemic diseases with posterior uveitis Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemic karyomegaly Systemic Lupus Erythematosus Systemic mastocytosis with associated hematologic neoplasm Systemic monochloroacetate poisoning Systemic polyarteritis nodosa Systemic primary carnitine deficiency Systemic sarcoidosis (Boeck) Systemic Sclerosis Systemic sclerosis Systemic sclerosis sine scleroderma Systemic vasculitis associated with glomerulopathy T-cell acute lymphoblastic leukemia T-cell large granular lymphocyte leukemia T-cell non-Hodgkin lymphoma T-cell prolymphocytic leukemia Takotsubo cardiomyopathy Takotsubo cardiomyopathy (stress-induced cardiomyopathy) Talaromycosis (Talaromyces marneffei infection) TANGO2-related metabolic encephalopathy-arrhythmia syndrome TAR syndrome (thrombocytopenia-absent radius syndrome) TARP syndrome Tarui disease (glycogen storage disease type VII) Tatton-Brown-Rahman overgrowth syndrome Taussig-Bing syndrome TBCD TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome TCA cycle disorder TCF12-related syndromic craniosynostosis TCR-alpha-beta-positive T-cell deficiency TDO syndrome Teebi hypertelorism syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia macularis eruptiva perstans Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric fluid collections-intrapulmonary shunting syndrome Telangiectatic capillary malformation Telecanthus-hypertelorism-strabismus-pes cavus syndrome Telethonin-related limb-girdle muscular dystrophy R7 Telfer-Sugar-Jaeger syndrome TELO2-related intellectual disability-neurodevelopmental disorder Telomeric deletion 10p Telomeric deletion 10q Telomeric deletion 11q Telomeric deletion 12q Telomeric deletion 13q Telomeric deletion 14q Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 5q Telomeric deletion 9p Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 1p36 Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric monosomy 3p Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temple-Baraitser syndrome Temporal arteritis (giant cell arteritis) Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal complement pathway deficiency Terminal extramedullary conus spinal cord lipoma Terminal myelocystocele Terminal osseous dysplasia-pigmentary defects syndrome Terrien marginal degeneration Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessier number 7 facial cleft Testicular agenesis Testicular Dysgenesis Testicular germ cell tumor Testicular regression syndrome Testicular seminoma Testicular sex cord-stromal tumor TET3-related Beck-Fahrner syndrome Tetra X Tetraamelia-multiple malformations syndrome Tetragametic chimerism syndrome Tetrahydrobiopterin-responsive phenylketonuria Tetrahydrobiopterin-unresponsive phenylketonuria Tetramelic monodactyly Tetrasomy 11q24.1 Tetrasomy 15q26 Tetrasomy 18p syndrome Tetrasomy 21 syndrome Tetrasomy 5p syndrome Tetrasomy 9p syndrome Tetrasomy X syndrome Teunissen-Cremers syndrome TFE3-related neurodevelopmental disorder TFR2-related hemochromatosis TFRC-related combined immunodeficiency Thakker-Donnai syndrome Thalassaemia Intermedia Thalassaemia Major Thalassaemia Trait Thalidomide embryopathy Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Thanatophoric dysplasia-cloverleaf skull syndrome Thauvin-Robinet-Faivre syndrome THBD-related bleeding disorder Theca steroid-producing cell tumor of ovary Theodore superior limbic keratoconjunctivitis Therapy-related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thickened earlobes-conductive hearing loss syndrome Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs-tubular bones-dysmorphism syndrome Thinking epilepsy Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomas syndrome Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic malformation Thoracic outlet syndrome Thoraco-abdominal enteric duplication Thoraco-abdominal syndrome Thoracolaryngopelvic dysplasia Thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Thromboangiitis obliterans Thrombocythemia with distal limb defects Thrombocytopathy-asplenia-miosis syndrome Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia-absent radius syndrome Thrombocytopenia-anasarca-fever renal insufficiency-organomegaly syndrome Thromboembolism Thrombomodulin-related bleeding disorder Thrombotic microangiopathy Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Thumb deformity-alopecia pigmentation anomaly syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Thurston syndrome Thygeson superficial punctate keratitis Thymic carcinoma Thymic epithelial tumor Thymic neuroendocrine tumor Thymic Neuroendocrine Tumour Thymoma hypogammaglobulinemia syndrome Thyrocerebrorenal syndrome Thyroid Carcinoma Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid-renal-digital anomalies Thyroiditis Thyrotoxic periodic paralysis Thyrotoxicosis Thyrotroph adenoma Tibia vara Blount Tibial aplasia-ectrodactyly syndrome Tibial muscular dystrophy Tibiofibular diaphyseal toxopachyosteosis Tick-borne encephalitis Tietz syndrome Timothy syndrome Timothy syndrome type 1 Timothy syndrome type 2 TINU syndrome Titin-related limb-girdle muscular dystrophy R10 TJP2 deficit TKT deficiency TLK2-related neurodevelopmental disorder TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome TM2D3-related neurodevelopmental disorder TMEM147-related neurodevelopmental disorder TMEM165-CDG TMEM199-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome TNF receptor 1-associated periodic syndrome Tolosa-Hunt syndrome Toluene embryopathy Tomaculous neuropathy Tonic pupil-tendon areflexia syndrome Tonoki-Ohura-Niikawa syndrome Tooth and nail syndrome Toriello syndrome Toriello-Carey syndrome Toriello-Higgins-Miller syndrome Torpedo maculopathy Torsade-de-pointes syndrome with short coupling interval Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Tortuosity of retinal arteries Total color blindness Total early-onset cataract Touraine-Solente-Gole syndrome Townes syndrome Toxic dermatosis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic or drug-related embryofetopathy Toxic pustuloderma Toxin-mediated infectious botulism Toxocariasis Toxoplasma embryofetopathy TPHA TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay Traboulsi syndrome Tracheal agenesis Tracheal anomaly Tracheal atresia Tracheal Obstruction Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica TRAF7-associated heart defect-digital anomalies-facial dysmorphism syndrome Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin I deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient antenatal Bartter syndrome Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient congenital hypothyroidism due to maternal TSH receptor-blocking antibodies Transient congenital hypothyroidism due to neonatal hyperthyrotropinemia Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient Ischaemic Attacks Transient left ventricular apical ballooning syndrome Transient myeloproliferative disease Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient predisposition to invasive pyogenic bacterial infection Transient pseudohypoaldosteronism Transient reactive papulotranslucent acrokeratoderma Transient tyrosinemia of the newborn Transition renal cell carcinoma Transitional atrioventricular canal defect Transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the pelvis and ureter Transitional cell carcinoma of the upper urinary tract Transitional PMD Transketolase deficiency Translocation renal cell carcinoma Transplacentally acquired neonatal autoimmune disease Transplant-related bronchiolitis obliterans Transposition of the great arteries Transposition of the great arteries and conotruncal heart defects Transverse facial cleft Transverse Myelitis Transverse vaginal septum TRAP sequence TRAPPC11-related limb-girdle muscular dystrophy R18 Traumatic avascular necrosis Traumatic AVN Traumatic myiasis TRDN-related isolated congenital Long QT syndrome Treacher-Collins syndrome Trehalase deficiency Tremor-ataxia-central hypomyelination syndrome Tremor-nystagmus-duodenal ulcer syndrome Trevor disease TRH resistance syndrome Triad syndrome TRIANGLE disease Triatrial heart Trichinellosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia spinulosa Trichodysplasia-amelogenesis imperfecta syndrome Trichofolliculoma Trichomatrical carcinoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tricuspid Regurgitation Trigeminal autonomic cephalalgia Trigeminal neuralgia Trigeminal trophic syndrome Triglyceride deposit cardiomyovasculopathy Trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-broad thumbs syndrome Trigonocephaly-short stature-developmental delay syndrome Trilineage bone marrow failure-developmental delay syndrome TRIM22-related IBD TRIM22-related inflammatory bowel disease TRIM32-related limb-girdle muscular dystrophy R8 Trimethylaminuria Triophthalmia Triopia Triose phosphate-isomerase deficiency TRIP13-related Wilms tumor predisposition syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triple A syndrome Triple H syndrome Triple X Syndrome Triplication 15q25-qter Triplication 15q26 Triplo-X syndrome Triploidy syndrome Trismus-pseudocamptodactyly syndrome Trisomy 1 mosaicism Trisomy 10 mosaicism Trisomy 10p syndrome Trisomy 12 mosaicism Trisomy 12p syndrome Trisomy 13 syndrome Trisomy 14 mosaicism Trisomy 15 mosaicism Trisomy 16 mosaicism Trisomy 17 mosaicism Trisomy 17p syndrome Trisomy 18 syndrome Trisomy 18p syndrome Trisomy 1q syndrome Trisomy 2 mosaicism Trisomy 20 mosaicism Trisomy 20p syndrome Trisomy 21 Trisomy 22 mosaicism Trisomy 3 mosaicism Trisomy 4 mosaicism Trisomy 4p syndrome Trisomy 5 mosaicism Trisomy 5p syndrome Trisomy 7 mosaicism Trisomy 8 mosaicism Trisomy 8p syndrome Trisomy 8q syndrome Trisomy 9 mosaicism Trisomy 9p syndrome Trisomy X syndrome Tritan colour blindness Tritanopia Tropical calcific chronic pancreatitis Tropical endomyocardial fibrosis Tropical pancreatitis Tropical pyomyositis Tropical spastic paraparesis Troyer syndrome TRPV4-related bone disorder True congenital pancreatic cyst True congenital shoulder dislocation True microcephaly True myelomeningocele True unicornuate uterus Truncus arteriosus Tsao-Ellingson syndrome TSC2/PKD1 contiguous gene syndrome TSH-secreting pituitary adenoma TSHZ3-related congenital anomalies of kidney-urinary tract syndrome Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever Tubal cancer Tuberculosis Tuberculosis of respiratory system Tuberous Sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubulinopathy-associated dysgyria Tubulocystic renal cell carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tufted angioma Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome Tumor of cranial and spinal nerves Tumor of testis and paratestis Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tungiasis Tunnel subaortic stenosis Turban tumor syndrome Turner Syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turnpenny-Fry syndrome Twin anemia-polycythemia sequence Twin-reversed arterial perfusion sequence Twin-to-twin transfusion syndrome Tylosis with oesophageal cancer Tylosis-oesophageal carcinoma syndrome Type 1 galactosemia Type 1 interferonopathy Type 1 syndactyly-microcephaly-intellectual disability syndrome Type 2 galactosemia Type 3 galactosemia Type 4 galactosemia Type I OI Type II OI Type III OI Type IV OI Typhoidal salmonellosis Typical hemolytic uremic syndrome Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Ulcerative Colitis Undifferentiated Pleomorphic Sarcoma Unifocal Langerhans Cell Histiocytosis Uniparental Disomy Univentricular Heart Universal Melanosis Unroofed Coronary Sinus Unspecified Mitochondrial Disorder Upington Disease Upper Respiratory Tract Infections Upper Tract Urothelial Carcinoma Urachal Carcinoma Urachal Tumour Urbach-Wiethe Disease Urban-Rifkin-Davis Syndrome Urban-Rogers-Meyer Syndrome Urban-Schosser-Spohn Syndrome Ureter Carcinoma Uridine 5'-monophosphate hydrolase deficiency Uridine Monophosphate Synthetase Deficiency Urinary Tract Infection s Urioste Syndrome Urocanic Aciduria Urofacial Syndrome Urogenital Tuberculosis Urological Carcinoma Urothelial Carcinoma Urrets-Zavalia Syndrome Uterine Carcinosarcoma Uterine Malignant Mixed Mullerian Tumour UV-sensitive Syndrome Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveomeningitic Syndrome Vaccine-induced immune thrombotic thrombocytopenia VACTERL association VACTERL with hydrocephalus Vacuolar aggregate myopathy Vacuolar sorting protein 45 deficiency Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell tumor Valine metabolic defect Valproic acid embryopathy Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Ende-Gupta syndrome Van Maldergem syndrome Vanishing bone disease Vanishing testis syndrome Váradi syndrome Variable age-onset epilepsy syndrome Variably protease-sensitive prionopathy Variant ABeta2M amyloidosis Variant Creutzfeldt-Jakob disease Variant of Guillain-Barré syndrome Vascular Ehlers-Danlos polymicrogyria syndrome Vascular Ehlers-Danlos syndrome Vasculitis-autoinflammation immunodeficiency-hematologic defects syndrome Vasoproliferative tumor of the retina Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VCAN-related vitreoretinopathy Vegetant intravascular hemangioendothelioma Vegetative pyoderma gangrenosum VEGFC-related congenital primary lymphedema Vein of Galen arteriovenous malformation Velo-facial-skeletal syndrome Venezuelan hemorrhagic fever Venolymphatic malformation Venous malformation of the spleen Venous malformations with glomus cells Ventilator-induced diaphragmatic dysfunction Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Ventricular septal defect with aortic insufficiency Ventriculomegaly-cystic kidney disease Verloes-Bourguignon syndrome Verloes-David syndrome Verloes-Gillerot-Fryns syndrome Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verrucous venous malformation Very early-onset schizophrenia Vesicourachal diverticulum VEXAS syndrome Vibratory angioedema Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome Viral hemorrhagic fever Viral Infections Viral myositis Virus-associated hemophagocytic syndrome Virus-associated trichodysplasia spinulosa Visceral arteriovenous malformation Visceral calciphylaxis Visceral fibromuscular dysplasia Visceral heterotaxy Visceral myopathy-familial external ophthalmoplegia syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visual snow syndrome Vitamin B12-responsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia Vitamin B6-dependent seizures Vitamin D-dependent rickets type I Vitamin D-dependent rickets type II Vitelliform macular dystrophy (Best vitelliform macular dystrophy) Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo Vitreoretinopathy Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease Volcke-Soekarman syndrome Von Meyenburg complexes disease Von Voss-Cherstvoy syndrome VPS11-related autosomal recessive hypomyelinating leukodystrophy VPS45 deficiency Vulto-van Silfout-de Vries syndrome Vulvar adenocarcinoma Vulvar basal cell carcinoma Vulvar carcinoma Vulvar intraepithelial neoplasia Vulvar squamous cell carcinoma Vulvovaginal gingival syndrome Vulvovaginal rhabdomyosarcoma Vuopala disease Västerbotten dystrophy Weill - Marchesani Syndrome West Syndrome ( Infantile Spasms ) Wilms Tumor Wilson's Disease Wolff-Parkinson-White Syndrome X Chromosome Number Anomaly Syndrome X Chromosome Number Anomaly with Female Phenotype Syndrome X Chromosome Number Anomaly with Male Phenotype Syndrome X-linked acqueductal stenosis X-linked Acrogigantism X-linked Adrenal Hypoplasia Congenita X-linked agammaglobulinemia (Bruton) X-linked AHC X-linked Alpha-thalassemia Intellectual Disability Syndrome X-linked Alport Syndrome X-linked Alport Syndrome-diffuse Leiomyomatosis X-linked Angelman-like Syndrome X-linked aqueductal stenosis X-linked aqueductal stenosis with hydrocephalus X-linked Ataxia-Deafness Syndrome X-linked ataxia-dementia syndrome X-linked ataxia-hearing loss syndrome X-linked Auditory Neuropathy with Peripheral Sensory Neuropathy Type 1 X-linked Autoinflammatory and Immunodeficiency Disease Associated with ELF4 X-linked Branchial Arch Syndrome X-linked bulbospinal muscular atrophy X-linked Calvarial Hyperostosis X-linked Cardioskeletal Myopathy and Neutropenia X-linked Central Congenital Hypothyroidism with Late-onset Macroorchidism X-linked Centronuclear Myopathy X-linked cerebral adrenoleukodystrophy X-linked cerebral degeneration syndrome X-linked cerebral-cerebellar degeneration syndrome X-linked Cerebral-Cerebellar-Coloboma Syndrome X-linked Charcot-Marie-Tooth Disease X-linked chondrodysplasia punctata type 2 X-linked Cleft Palate and Ankyloglossia X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome X-linked combined immunodeficiency due to SASH3 deficiency X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked complex spastic paraplegia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital anemia neutropenia syndrome X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked Congenital Generalized Hypertrichosis X-linked corneal dermoid X-linked Creatine Transporter Deficiency X-linked Cutaneous Amyloidosis X-linked deafness syndrome X-linked deafness-intellectual disability syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal hereditary motor neuropathy type 3 X-linked distal myopathy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria X-linked dystonia syndrome X-linked Dystonia-Parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss Muscular Dystrophy X-linked Endothelial Corneal Dystrophy X-linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome X-linked Erythropoietic Protoporphyria X-linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome X-linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked Hearing Loss-Intellectual Disability Syndrome X-linked Hereditary Motor and Sensory Neuropathy X-linked hereditary neuropathy X-linked hereditary sensory and autonomic neuropathy X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hereditary sensory and autonomic neuropathy with hearing loss X-linked Hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked Hyper-IgM Syndrome X-linked Hypohidrotic Ectodermal Dysplasia X-linked Immune Dysregulation with Inflammatory Bowel Disease due to ELF4 Deficiency X-linked immunodeficiency syndrome X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia X-linked Immunoneurologic Disorder X-linked Incomplete Achromatopsia X-linked intellectual disability cardiomegaly-congestive heart failure syndrome X-linked intellectual disability cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability cubitus valgus-dysmorphism syndrome X-linked Intellectual Disability due to GRIA3 Mutations X-linked Intellectual Disability due to PQBP1 Mutations X-linked intellectual disability dysmorphism-cerebral atrophy syndrome X-linked intellectual disability epilepsy syndrome X-linked intellectual disability global developmental delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability gynecomastia-obesity syndrome X-linked intellectual disability hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked intellectual disability hypotonia-movement disorder syndrome X-linked intellectual disability limb spasticity-retinal dystrophy-arginine vasopressin deficiency X-linked intellectual disability microcephaly-cortical malformation-thin habitus syndrome X-linked intellectual disability microcephaly-testicular failure syndrome X-linked intellectual disability progressive joint contractures-dysmorphism syndrome X-linked intellectual disability psychosis-macroorchidism syndrome X-linked intellectual disability seizures syndrome X-linked intellectual disability syndrome X-linked Intellectual Disability Syndrome, Lubs Type X-linked Intellectual Disability with Isolated Growth Hormone Deficiency X-linked Intellectual Disability with Marfanoid Habitus X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome X-linked intellectual disability-dystonia-dysarthria syndrome X-linked intellectual disability-hypotonia syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked isolated growth hormone deficiency X-linked Juvenile Retinoschisis X-linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-linked Lethal Multiple Pterygium Syndrome X-linked lissencephaly type 1 X-linked Lissencephaly with Abnormal Genitalia X-linked Mandibulofacial Dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod Syndrome X-linked Mendelian Susceptibility to Mycobacterial Diseases X-linked microcephaly syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked Moesin-associated Immunodeficiency X-linked motor neuron disease X-linked Myopathy with Excessive Autophagy X-linked Myopathy with Postural Muscle Atrophy X-linked Myotubular Myopathy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked Neurodegenerative Syndrome, Bertini Type X-linked Neurodegenerative Syndrome, Hamel Type X-linked neurodevelopmental disorder X-linked Non Progressive Cerebellar Ataxia X-linked Non-syndromic Hearing Loss X-linked Non-syndromic Intellectual Disability X-linked Ohdo Syndrome X-linked Osteoporosis with Fractures X-linked parkinsonism X-linked Parkinsonism-Spasticity Syndrome X-linked peripheral neuropathy X-linked pigmentary disorder X-linked Progressive Cerebellar Ataxia X-linked progressive spastic paraplegia X-linked Pure Spastic Paraplegia X-linked Recessive Hypercalciuric Hypophosphatemic Rickets X-linked Recessive Nephrolithiasis X-linked Recessive Ocular Albinism X-linked Reticulate Pigmentary Disorder X-linked retinal dystrophy X-linked Scapuloperoneal Muscular Dystrophy X-linked scapuloperoneal syndrome X-linked Severe Congenital Neutropenia X-linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection X-linked Sideroblastic Anemia X-linked Sideroblastic Anemia with Ataxia X-linked sideroblastic anemia with spinocerebellar ataxia X-linked skeletal dysplasia X-linked Skeletal Dysplasia-Intellectual Disability Syndrome X-linked spastic paraplegia X-linked Spastic Paraplegia Type 16 X-linked Spastic Paraplegia Type 2 X-linked Spastic Paraplegia Type 34 X-linked spasticity syndrome X-linked Spasticity-Intellectual Disability-Epilepsy Syndrome X-linked Spinal and Bulbar Muscular Atrophy X-linked spinal muscular atrophy type 2 X-linked Spinal Muscular Atrophy with Respiratory Distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type X-linked thrombocytopenia X-linked thrombocytopenia syndrome X-linked thrombocytopenia with normal platelets X-linked vascular malformation syndrome Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinuria type II Xanthoma disseminatum Xanthous oculocutaneous albinism Xanthurenic aciduria Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Xia-Gibbs syndrome XIAP deficiency syndrome XK aprosencephaly syndrome XK syndrome Xp deletion syndrome Xp21 contiguous gene deletion syndrome Xp21 deletion syndrome Xp21 microdeletion syndrome Xp22.13-p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq duplication syndrome Xq12-q13.3 duplication syndrome Xq21 microdeletion syndrome Xq22.3 microdeletion syndrome Xq25 microduplication syndrome Xq25 microtriplication Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome Xq28 contiguous gene deletion syndrome XX female gonadal dysgenesis XX gonadal dysgenesis-deafness syndrome XX gonadal dysgenesis-hearing loss syndrome XX, male syndrome XXX syndrome XY gonadal agenesis syndrome XY sex reversal-adrenal failure XY type gonadal dysgenesis-associated anomalies syndrome Xylitol dehydrogenase deficiency XYLT1-CDG XYY Syndrome	Choose Sign