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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 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 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 Dandy - Walker Syndrome Decubitus ulcers Dengue Haemorrhagic Fever - DHF Dengue Shock Syndrome - DSS Dermatomyositis Diabetes Insipidus Diabetes Mellitus Diabetic Ketoacidosis Diffuse large B-cell lymphoma Diffuse Unilateral Subacute Neuroretinitis Diplophthalmia Disseminated Intravascular Coagulation Distal Intestinal Obstruction Syndrome DNA repair disorder with growth deficiency (Bloom syndrome) 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 Familial Amyloid Syndromes Fanconi Syndrome Favism Felty's Syndrome Fetal Alcohol Syndrome Fetal Death Fibromuscular dysplasia of the arteries of the extremities Fibrosing Alveolitis Floppy Valve Syndrome Focal segmental glomerulosclerosis (FSGS) Folate Deficiency Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gout Guillain Barre Syndrome Gyrate Atrophy Haemochromatosis Haemoglobin H Disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Hairy Cell Leukaemia Hemimegalencephaly Hemochromatosis (Bronze diabetes) Henoch-Schonlein Purpura Hepatic Failure Hepatic Vein Thrombosis Hepatitis Hepatocellular Carcinoma Hepatorenal Failure Hereditary periodic fever syndromes Herpes labialis Homocystinuria Hydrops Fetalis Hyperaldosteronism Hyperammonemia Hypercalcaemia Hyperlysinemia Hyperthyroidism Hypertrophic Cardiomyopathy Hyperviscosity Syndrome Hypoadrenalism Hypogammaglobulinaemia Hypogonadism Hypoparathyroidism Hypopituitarism Hypothyroidism Idiopathic Hyperprolactinaemia Idiopathic Thrombocytopenic Purpura IgA glomerulonephritis IgM glomerulonephritis Infective Endocarditis Inferior Vena-caval Obstruction Inflammatory Bowel Disease Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intermittent Claudication Intervertebral Disc Rupture Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intrauterine Growth Restriction Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease 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 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 Malabsorption Marfan Syndrome Mastitis Mediastinal Fibrosis Mediastinal Granuloma Megacalycosis Megaloblastic Anaemia Megaoesophagus Membranoproliferative glomerulonephritis Membranous glomerulonephritis Meniere's Disease Meningeal Haemorrhage Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menstrual cycle-dependent periodic fever Mesenteric Adenitis Mesenteric Vein Thrombosis Minimal change nephropathy Miscarriage Mitochondrial Disorder Mitral Regurgitation Mitral Stenosis Mitral Valve Insufficiency Mitral Valve Prolapse Mixed connective-tissue disease Motor Neuron Disease Moyamoya Disease Mucocutaneous Candidiasis Mullerian Duct Aplasia Multicystic Dysplastic Kidney Multiple venous malformations (Bean syndrome) Mycosis fungoides Myelitis Myelodysplastic Syndrome Myeloma Myeloproliferative Disease Myocardial Fibrosis Myocardial Infarction 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 Necrolytic Migratory Erythema Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Nephritis Nephronophthisis Nephrotic Syndrome Neuroretinitis Neutral lipid storage disease with myopathy NMDA receptor encephalitis Non-alcoholic Fatty Liver Disease Non-Hodgkin lymphoma 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 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 Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Schizophrenia Scleroderma Sclerosing Cholangitis Secondary Acquired Sideroblastic Anaemia Septicaemia Septicaemia - Gram negative 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 Sezary Syndrome Simpson - Golabi - Behmel Syndrome Sjogren's Syndrome Skin - Squamous Cell Carcinoma Sleep Deprivation Spinal Cord Compression Spinal Epidural Abscess Spine Abscess Spinocerebellar Ataxia Splenic Rupture Spontaneous Abortion Sterility - Female Sterility - Male Stevens Johnson Syndrome Subacute Combined Degeneration of Cord Subacute Sclerosing Panencephalitis - SSPE Sulfite Oxidase Deficiency Superior Vena Caval Obstruction Sydenham's Chorea Systemic Lupus Erythematosus Systemic sarcoidosis (Boeck) Systemic Sclerosis 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 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 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 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 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 Dandy - Walker Syndrome Decubitus ulcers Dengue Haemorrhagic Fever - DHF Dengue Shock Syndrome - DSS Dermatomyositis Diabetes Insipidus Diabetes Mellitus Diabetic Ketoacidosis Diffuse large B-cell lymphoma Diffuse Unilateral Subacute Neuroretinitis Diplophthalmia Disseminated Intravascular Coagulation Distal Intestinal Obstruction Syndrome DNA repair disorder with growth deficiency (Bloom syndrome) 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 Familial Amyloid Syndromes Fanconi Syndrome Favism Felty's Syndrome Fetal Alcohol Syndrome Fetal Death Fibromuscular dysplasia of the arteries of the extremities Fibrosing Alveolitis Floppy Valve Syndrome Focal segmental glomerulosclerosis (FSGS) Folate Deficiency Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gout Guillain Barre Syndrome Gyrate Atrophy Haemochromatosis Haemoglobin H Disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Hairy Cell Leukaemia Hemimegalencephaly Hemochromatosis (Bronze diabetes) Henoch-Schonlein Purpura Hepatic Failure Hepatic Vein Thrombosis Hepatitis Hepatocellular Carcinoma Hepatorenal Failure Hereditary periodic fever syndromes Herpes labialis Homocystinuria Hydrops Fetalis Hyperaldosteronism Hyperammonemia Hypercalcaemia Hyperlysinemia Hyperthyroidism Hypertrophic Cardiomyopathy Hyperviscosity Syndrome Hypoadrenalism Hypogammaglobulinaemia Hypogonadism Hypoparathyroidism Hypopituitarism Hypothyroidism Idiopathic Hyperprolactinaemia Idiopathic Thrombocytopenic Purpura IgA glomerulonephritis IgM glomerulonephritis Infective Endocarditis Inferior Vena-caval Obstruction Inflammatory Bowel Disease Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intermittent Claudication Intervertebral Disc Rupture Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intrauterine Growth Restriction Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease 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 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 Malabsorption Marfan Syndrome Mastitis Mediastinal Fibrosis Mediastinal Granuloma Megacalycosis Megaloblastic Anaemia Megaoesophagus Membranoproliferative glomerulonephritis Membranous glomerulonephritis Meniere's Disease Meningeal Haemorrhage Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menstrual cycle-dependent periodic fever Mesenteric Adenitis Mesenteric Vein Thrombosis Minimal change nephropathy Miscarriage Mitochondrial Disorder Mitral Regurgitation Mitral Stenosis Mitral Valve Insufficiency Mitral Valve Prolapse Mixed connective-tissue disease Motor Neuron Disease Moyamoya Disease Mucocutaneous Candidiasis Mullerian Duct Aplasia Multicystic Dysplastic Kidney Multiple venous malformations (Bean syndrome) Mycosis fungoides Myelitis Myelodysplastic Syndrome Myeloma Myeloproliferative Disease Myocardial Fibrosis Myocardial Infarction 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 Necrolytic Migratory Erythema Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Nephritis Nephronophthisis Nephrotic Syndrome Neuroretinitis Neutral lipid storage disease with myopathy NMDA receptor encephalitis Non-alcoholic Fatty Liver Disease Non-Hodgkin lymphoma 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 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 Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Schizophrenia Scleroderma Sclerosing Cholangitis Secondary Acquired Sideroblastic Anaemia Septicaemia Septicaemia - Gram negative 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 Sezary Syndrome Simpson - Golabi - Behmel Syndrome Sjogren's Syndrome Skin - Squamous Cell Carcinoma Sleep Deprivation Spinal Cord Compression Spinal Epidural Abscess Spine Abscess Spinocerebellar Ataxia Splenic Rupture Spontaneous Abortion Sterility - Female Sterility - Male Stevens Johnson Syndrome Subacute Combined Degeneration of Cord Subacute Sclerosing Panencephalitis - SSPE Sulfite Oxidase Deficiency Superior Vena Caval Obstruction Sydenham's Chorea Systemic Lupus Erythematosus Systemic sarcoidosis (Boeck) Systemic Sclerosis 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 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 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 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 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 Dandy - Walker Syndrome Decubitus ulcers Dengue Haemorrhagic Fever - DHF Dengue Shock Syndrome - DSS Dermatomyositis Diabetes Insipidus Diabetes Mellitus Diabetic Ketoacidosis Diffuse large B-cell lymphoma Diffuse Unilateral Subacute Neuroretinitis Diplophthalmia Disseminated Intravascular Coagulation Distal Intestinal Obstruction Syndrome DNA repair disorder with growth deficiency (Bloom syndrome) 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 Familial Amyloid Syndromes Fanconi Syndrome Favism Felty's Syndrome Fetal Alcohol Syndrome Fetal Death Fibromuscular dysplasia of the arteries of the extremities Fibrosing Alveolitis Floppy Valve Syndrome Focal segmental glomerulosclerosis (FSGS) Folate Deficiency Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gout Guillain Barre Syndrome Gyrate Atrophy Haemochromatosis Haemoglobin H Disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Hairy Cell Leukaemia Hemimegalencephaly Hemochromatosis (Bronze diabetes) Henoch-Schonlein Purpura Hepatic Failure Hepatic Vein Thrombosis Hepatitis Hepatocellular Carcinoma Hepatorenal Failure Hereditary periodic fever syndromes Herpes labialis Homocystinuria Hydrops Fetalis Hyperaldosteronism Hyperammonemia Hypercalcaemia Hyperlysinemia Hyperthyroidism Hypertrophic Cardiomyopathy Hyperviscosity Syndrome Hypoadrenalism Hypogammaglobulinaemia Hypogonadism Hypoparathyroidism Hypopituitarism Hypothyroidism Idiopathic Hyperprolactinaemia Idiopathic Thrombocytopenic Purpura IgA glomerulonephritis IgM glomerulonephritis Infective Endocarditis Inferior Vena-caval Obstruction Inflammatory Bowel Disease Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intermittent Claudication Intervertebral Disc Rupture Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intrauterine Growth Restriction Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease 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 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 Malabsorption Marfan Syndrome Mastitis Mediastinal Fibrosis Mediastinal Granuloma Megacalycosis Megaloblastic Anaemia Megaoesophagus Membranoproliferative glomerulonephritis Membranous glomerulonephritis Meniere's Disease Meningeal Haemorrhage Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menstrual cycle-dependent periodic fever Mesenteric Adenitis Mesenteric Vein Thrombosis Minimal change nephropathy Miscarriage Mitochondrial Disorder Mitral Regurgitation Mitral Stenosis Mitral Valve Insufficiency Mitral Valve Prolapse Mixed connective-tissue disease Motor Neuron Disease Moyamoya Disease Mucocutaneous Candidiasis Mullerian Duct Aplasia Multicystic Dysplastic Kidney Multiple venous malformations (Bean syndrome) Mycosis fungoides Myelitis Myelodysplastic Syndrome Myeloma Myeloproliferative Disease Myocardial Fibrosis Myocardial Infarction 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 Necrolytic Migratory Erythema Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Nephritis Nephronophthisis Nephrotic Syndrome Neuroretinitis Neutral lipid storage disease with myopathy NMDA receptor encephalitis Non-alcoholic Fatty Liver Disease Non-Hodgkin lymphoma 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 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 Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Schizophrenia Scleroderma Sclerosing Cholangitis Secondary Acquired Sideroblastic Anaemia Septicaemia Septicaemia - Gram negative 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 Sezary Syndrome Simpson - Golabi - Behmel Syndrome Sjogren's Syndrome Skin - Squamous Cell Carcinoma Sleep Deprivation Spinal Cord Compression Spinal Epidural Abscess Spine Abscess Spinocerebellar Ataxia Splenic Rupture Spontaneous Abortion Sterility - Female Sterility - Male Stevens Johnson Syndrome Subacute Combined Degeneration of Cord Subacute Sclerosing Panencephalitis - SSPE Sulfite Oxidase Deficiency Superior Vena Caval Obstruction Sydenham's Chorea Systemic Lupus Erythematosus Systemic sarcoidosis (Boeck) Systemic Sclerosis 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 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 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 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 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 Dandy - Walker Syndrome Decubitus ulcers Dengue Haemorrhagic Fever - DHF Dengue Shock Syndrome - DSS Dermatomyositis Diabetes Insipidus Diabetes Mellitus Diabetic Ketoacidosis Diffuse large B-cell lymphoma Diffuse Unilateral Subacute Neuroretinitis Diplophthalmia Disseminated Intravascular Coagulation Distal Intestinal Obstruction Syndrome DNA repair disorder with growth deficiency (Bloom syndrome) 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 Familial Amyloid Syndromes Fanconi Syndrome Favism Felty's Syndrome Fetal Alcohol Syndrome Fetal Death Fibromuscular dysplasia of the arteries of the extremities Fibrosing Alveolitis Floppy Valve Syndrome Focal segmental glomerulosclerosis (FSGS) Folate Deficiency Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gout Guillain Barre Syndrome Gyrate Atrophy Haemochromatosis Haemoglobin H Disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Hairy Cell Leukaemia Hemimegalencephaly Hemochromatosis (Bronze diabetes) Henoch-Schonlein Purpura Hepatic Failure Hepatic Vein Thrombosis Hepatitis Hepatocellular Carcinoma Hepatorenal Failure Hereditary periodic fever syndromes Herpes labialis Homocystinuria Hydrops Fetalis Hyperaldosteronism Hyperammonemia Hypercalcaemia Hyperlysinemia Hyperthyroidism Hypertrophic Cardiomyopathy Hyperviscosity Syndrome Hypoadrenalism Hypogammaglobulinaemia Hypogonadism Hypoparathyroidism Hypopituitarism Hypothyroidism Idiopathic Hyperprolactinaemia Idiopathic Thrombocytopenic Purpura IgA glomerulonephritis IgM glomerulonephritis Infective Endocarditis Inferior Vena-caval Obstruction Inflammatory Bowel Disease Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intermittent Claudication Intervertebral Disc Rupture Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intrauterine Growth Restriction Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease 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 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 Malabsorption Marfan Syndrome Mastitis Mediastinal Fibrosis Mediastinal Granuloma Megacalycosis Megaloblastic Anaemia Megaoesophagus Membranoproliferative glomerulonephritis Membranous glomerulonephritis Meniere's Disease Meningeal Haemorrhage Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menstrual cycle-dependent periodic fever Mesenteric Adenitis Mesenteric Vein Thrombosis Minimal change nephropathy Miscarriage Mitochondrial Disorder Mitral Regurgitation Mitral Stenosis Mitral Valve Insufficiency Mitral Valve Prolapse Mixed connective-tissue disease Motor Neuron Disease Moyamoya Disease Mucocutaneous Candidiasis Mullerian Duct Aplasia Multicystic Dysplastic Kidney Multiple venous malformations (Bean syndrome) Mycosis fungoides Myelitis Myelodysplastic Syndrome Myeloma Myeloproliferative Disease Myocardial Fibrosis Myocardial Infarction 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 Necrolytic Migratory Erythema Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Nephritis Nephronophthisis Nephrotic Syndrome Neuroretinitis Neutral lipid storage disease with myopathy NMDA receptor encephalitis Non-alcoholic Fatty Liver Disease Non-Hodgkin lymphoma 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 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 Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Schizophrenia Scleroderma Sclerosing Cholangitis Secondary Acquired Sideroblastic Anaemia Septicaemia Septicaemia - Gram negative 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 Sezary Syndrome Simpson - Golabi - Behmel Syndrome Sjogren's Syndrome Skin - Squamous Cell Carcinoma Sleep Deprivation Spinal Cord Compression Spinal Epidural Abscess Spine Abscess Spinocerebellar Ataxia Splenic Rupture Spontaneous Abortion Sterility - Female Sterility - Male Stevens Johnson Syndrome Subacute Combined Degeneration of Cord Subacute Sclerosing Panencephalitis - SSPE Sulfite Oxidase Deficiency Superior Vena Caval Obstruction Sydenham's Chorea Systemic Lupus Erythematosus Systemic sarcoidosis (Boeck) Systemic Sclerosis 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 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 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 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 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 Dandy - Walker Syndrome Decubitus ulcers Dengue Haemorrhagic Fever - DHF Dengue Shock Syndrome - DSS Dermatomyositis Diabetes Insipidus Diabetes Mellitus Diabetic Ketoacidosis Diffuse large B-cell lymphoma Diffuse Unilateral Subacute Neuroretinitis Diplophthalmia Disseminated Intravascular Coagulation Distal Intestinal Obstruction Syndrome DNA repair disorder with growth deficiency (Bloom syndrome) 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 Familial Amyloid Syndromes Fanconi Syndrome Favism Felty's Syndrome Fetal Alcohol Syndrome Fetal Death Fibromuscular dysplasia of the arteries of the extremities Fibrosing Alveolitis Floppy Valve Syndrome Focal segmental glomerulosclerosis (FSGS) Folate Deficiency Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gout Guillain Barre Syndrome Gyrate Atrophy Haemochromatosis Haemoglobin H Disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Hairy Cell Leukaemia Hemimegalencephaly Hemochromatosis (Bronze diabetes) Henoch-Schonlein Purpura Hepatic Failure Hepatic Vein Thrombosis Hepatitis Hepatocellular Carcinoma Hepatorenal Failure Hereditary periodic fever syndromes Herpes labialis Homocystinuria Hydrops Fetalis Hyperaldosteronism Hyperammonemia Hypercalcaemia Hyperlysinemia Hyperthyroidism Hypertrophic Cardiomyopathy Hyperviscosity Syndrome Hypoadrenalism Hypogammaglobulinaemia Hypogonadism Hypoparathyroidism Hypopituitarism Hypothyroidism Idiopathic Hyperprolactinaemia Idiopathic Thrombocytopenic Purpura IgA glomerulonephritis IgM glomerulonephritis Infective Endocarditis Inferior Vena-caval Obstruction Inflammatory Bowel Disease Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intermittent Claudication Intervertebral Disc Rupture Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intrauterine Growth Restriction Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease 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 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 Malabsorption Marfan Syndrome Mastitis Mediastinal Fibrosis Mediastinal Granuloma Megacalycosis Megaloblastic Anaemia Megaoesophagus Membranoproliferative glomerulonephritis Membranous glomerulonephritis Meniere's Disease Meningeal Haemorrhage Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menstrual cycle-dependent periodic fever Mesenteric Adenitis Mesenteric Vein Thrombosis Minimal change nephropathy Miscarriage Mitochondrial Disorder Mitral Regurgitation Mitral Stenosis Mitral Valve Insufficiency Mitral Valve Prolapse Mixed connective-tissue disease Motor Neuron Disease Moyamoya Disease Mucocutaneous Candidiasis Mullerian Duct Aplasia Multicystic Dysplastic Kidney Multiple venous malformations (Bean syndrome) Mycosis fungoides Myelitis Myelodysplastic Syndrome Myeloma Myeloproliferative Disease Myocardial Fibrosis Myocardial Infarction 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 Necrolytic Migratory Erythema Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Nephritis Nephronophthisis Nephrotic Syndrome Neuroretinitis Neutral lipid storage disease with myopathy NMDA receptor encephalitis Non-alcoholic Fatty Liver Disease Non-Hodgkin lymphoma 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 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 Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Schizophrenia Scleroderma Sclerosing Cholangitis Secondary Acquired Sideroblastic Anaemia Septicaemia Septicaemia - Gram negative 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 Sezary Syndrome Simpson - Golabi - Behmel Syndrome Sjogren's Syndrome Skin - Squamous Cell Carcinoma Sleep Deprivation Spinal Cord Compression Spinal Epidural Abscess Spine Abscess Spinocerebellar Ataxia Splenic Rupture Spontaneous Abortion Sterility - Female Sterility - Male Stevens Johnson Syndrome Subacute Combined Degeneration of Cord Subacute Sclerosing Panencephalitis - SSPE Sulfite Oxidase Deficiency Superior Vena Caval Obstruction Sydenham's Chorea Systemic Lupus Erythematosus Systemic sarcoidosis (Boeck) Systemic Sclerosis 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 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 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 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 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 Dandy - Walker Syndrome Decubitus ulcers Dengue Haemorrhagic Fever - DHF Dengue Shock Syndrome - DSS Dermatomyositis Diabetes Insipidus Diabetes Mellitus Diabetic Ketoacidosis Diffuse large B-cell lymphoma Diffuse Unilateral Subacute Neuroretinitis Diplophthalmia Disseminated Intravascular Coagulation Distal Intestinal Obstruction Syndrome DNA repair disorder with growth deficiency (Bloom syndrome) 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 Familial Amyloid Syndromes Fanconi Syndrome Favism Felty's Syndrome Fetal Alcohol Syndrome Fetal Death Fibromuscular dysplasia of the arteries of the extremities Fibrosing Alveolitis Floppy Valve Syndrome Focal segmental glomerulosclerosis (FSGS) Folate Deficiency Gardner's Syndrome Gastric Carcinoma Gastric Lymphoma Gastritis Gastroenteritis Gastroesophageal Reflux Gastrointestinal Haemorrhage General Paralysis of Insane - GPI GI Carcinoma Gitelman Syndrome Glaucoma Glomerulonephritis Glomerulosclerosis Goldenhar Syndrome Gout Guillain Barre Syndrome Gyrate Atrophy Haemochromatosis Haemoglobin H Disease Haemolysis Haemolytic Anaemia Haemolytic Uraemic Syndrome Haemorrhagic Colitis Hairy Cell Leukaemia Hemimegalencephaly Hemochromatosis (Bronze diabetes) Henoch-Schonlein Purpura Hepatic Failure Hepatic Vein Thrombosis Hepatitis Hepatocellular Carcinoma Hepatorenal Failure Hereditary periodic fever syndromes Herpes labialis Homocystinuria Hydrops Fetalis Hyperaldosteronism Hyperammonemia Hypercalcaemia Hyperlysinemia Hyperthyroidism Hypertrophic Cardiomyopathy Hyperviscosity Syndrome Hypoadrenalism Hypogammaglobulinaemia Hypogonadism Hypoparathyroidism Hypopituitarism Hypothyroidism Idiopathic Hyperprolactinaemia Idiopathic Thrombocytopenic Purpura IgA glomerulonephritis IgM glomerulonephritis Infective Endocarditis Inferior Vena-caval Obstruction Inflammatory Bowel Disease Intellectual disability-hypotonia syndrome (Börjeson-Forssman-Lehmann syndrome) Intermittent Claudication Intervertebral Disc Rupture Intestinal Obstruction Intestinal Perforation Intestinal Polyps Intrauterine Growth Restriction Iridocyclitis Irritable Bowel Syndrome Ischaemic Heart Disease 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 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 Malabsorption Marfan Syndrome Mastitis Mediastinal Fibrosis Mediastinal Granuloma Megacalycosis Megaloblastic Anaemia Megaoesophagus Membranoproliferative glomerulonephritis Membranous glomerulonephritis Meniere's Disease Meningeal Haemorrhage Meningitis Meningitis - Aseptic Meningitis - Bacterial Meningitis - Chronic Meningitis - Tuberculous Meningoencephalitis Meningomyelitis Menstrual cycle-dependent periodic fever Mesenteric Adenitis Mesenteric Vein Thrombosis Minimal change nephropathy Miscarriage Mitochondrial Disorder Mitral Regurgitation Mitral Stenosis Mitral Valve Insufficiency Mitral Valve Prolapse Mixed connective-tissue disease Motor Neuron Disease Moyamoya Disease Mucocutaneous Candidiasis Mullerian Duct Aplasia Multicystic Dysplastic Kidney Multiple venous malformations (Bean syndrome) Mycosis fungoides Myelitis Myelodysplastic Syndrome Myeloma Myeloproliferative Disease Myocardial Fibrosis Myocardial Infarction 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 Necrolytic Migratory Erythema Neonatal cholestasis bronze discoloration (Bronze baby syndrome) Neonate - Tracheoesophageal Fistula Neonate - Choanal Atresia Nephritis Nephronophthisis Nephrotic Syndrome Neuroretinitis Neutral lipid storage disease with myopathy NMDA receptor encephalitis Non-alcoholic Fatty Liver Disease Non-Hodgkin lymphoma 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 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 Failure Renal Failure - Acute Renal Infarction Renal Pelvis Carcinoma Renal Tubular Acidosis Renal Vein Thrombosis Respiratory Failure Respiratory Infections Retinal Haemangioblastoma Rheumatoid Arthritis Right Atrial Isomerism Right Heart Failure Sacroileitis Salpingitis Schizophrenia Scleroderma Sclerosing Cholangitis Secondary Acquired Sideroblastic Anaemia Septicaemia Septicaemia - Gram negative 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 Sezary Syndrome Simpson - Golabi - Behmel Syndrome Sjogren's Syndrome Skin - Squamous Cell Carcinoma Sleep Deprivation Spinal Cord Compression Spinal Epidural Abscess Spine Abscess Spinocerebellar Ataxia Splenic Rupture Spontaneous Abortion Sterility - Female Sterility - Male Stevens Johnson Syndrome Subacute Combined Degeneration of Cord Subacute Sclerosing Panencephalitis - SSPE Sulfite Oxidase Deficiency Superior Vena Caval Obstruction Sydenham's Chorea Systemic Lupus Erythematosus Systemic sarcoidosis (Boeck) Systemic Sclerosis 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 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 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