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Abnormality of the ear
Therapeutic area code (HPO):
HP:0000598Panel «Abnormality of the ear» :
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Disease code
Disease name
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:276422 10q22.3q23.3 microduplication syndrome
- ORPHA:300305 11p15.4 microduplication syndrome
- ORPHA:444002 11q22.2q22.3 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:261120 14q11.2 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:261183 15q11.2 microdeletion syndrome
- ORPHA:199318 15q13.3 microdeletion syndrome
- ORPHA:261190 15q14 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication syndrome
- ORPHA:217385 17p13.3 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:217340 17q21.31 microduplication syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:293948 1p21.3 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250989 1q21.1 microdeletion syndrome
- ORPHA:261295 20p12.3 microdeletion syndrome
- ORPHA:313781 20p13 microdeletion syndrome
- ORPHA:444051 20q11.2 microdeletion syndrome
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:1727 22q11.2 duplication syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:163693 2p21 microdeletion syndrome
- ORPHA:313947 2q23.1 microduplication syndrome
- ORPHA:1617 2q24 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- ORPHA:939 3-hydroxyisobutyric aciduria
- OMIM:612921 3-M syndrome 2
- OMIM:614205 3-M syndrome 3
- ORPHA:67048 3-methylglutaconic aciduria type 4
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:7 3C syndrome
- ORPHA:2616 3M syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- OMIM:265050 3mc syndrome 2
- OMIM:248340 3MC syndrome 3
- ORPHA:435638 3p25.3 microdeletion syndrome
- ORPHA:397695 3q27.3 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:251038 3q29 microduplication syndrome
- ORPHA:8 47,XYY syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:238750 4q21 microdeletion syndrome
- ORPHA:251046 6p22 microdeletion syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:314034 7p22.1 microduplication syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:228399 8q12 microduplication syndrome
- ORPHA:284160 8q21.11 microdeletion syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Disease code
Disease name
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- ORPHA:916 Aase-Smith syndrome
- OMIM:147800 Aase-Smith syndrome I
- OMIM:600501 ABCD syndrome
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:921 Abruzzo-Erickson syndrome
- ORPHA:926 Acatalasemia
- OMIM:619959 ACCES syndrome
- ORPHA:929 Achalasia-microcephaly syndrome
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200600 Achondrogenesis, type IA
- OMIM:100800 Achondroplasia
- ORPHA:15 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- ORPHA:40366 Acitretin/etretinate embryopathy
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- OMIM:201050 Acrocraniofacial dysostosis
- ORPHA:949 Acrocraniofacial dysostosis
- ORPHA:950 Acrodysostosis
- OMIM:101800 Acrodysostosis 1, with or without hormone resistance
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- OMIM:201170 Acrofacial dysostosis syndrome of rodriguez
- ORPHA:1786 Acrofacial dysostosis, Catania type
- OMIM:616462 Acrofacial dysostosis, Cincinnati type
- ORPHA:1787 Acrofacial dysostosis, Palagonia type
- ORPHA:1788 Acrofacial dysostosis, Rodríguez type
- ORPHA:952 Acrofacial dysostosis, Weyers type
- OMIM:201180 Acrofrontofacionasal dysostosis 1
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- ORPHA:963 Acromegaly
- OMIM:619636 Acromesomelic dysplasia 4
- ORPHA:2980 Acrootoocular syndrome
- OMIM:200980 Acrorenal-Mandibular syndrome
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:520 Acute promyelocytic leukemia
- OMIM:614219 Adams-Oliver syndrome 2
- ORPHA:85138 Addison disease
- ORPHA:95512 Adenohypophysitis
- OMIM:103050 Adenylosuccinase deficiency
- ORPHA:46 Adenylosuccinate lyase deficiency
- ORPHA:404448 ADNP syndrome
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:300100 Adrenoleukodystrophy
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:613500 Agammaglobulinemia 2, autosomal recessive
- OMIM:613501 Agammaglobulinemia 3, autosomal recessive
- OMIM:613502 Agammaglobulinemia 4, autosomal recessive
- OMIM:613506 Agammaglobulinemia 5, autosomal dominant
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:616941 Agammaglobulinemia 8, autosomal dominant
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:619693 Agammaglobulinemia 9, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- OMIM:218000 Agenesis of the corpus callosum with peripheral neuropathy
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- OMIM:202650 Agnathia-Otocephaly complex
- ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:250977 AICA-ribosiduria
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- ORPHA:50 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:617694 Al Kaissi syndrome
- OMIM:607131 Al-Gazali-Bakalinova syndrome
- OMIM:616459 Al-Raqad syndrome
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- ORPHA:319671 Alazami syndrome
- OMIM:615071 Alazami syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- OMIM:300650 Albinism, ocular, with late-onset sensorineural deafness
- OMIM:300700 Albinism-Deafness syndrome
- ORPHA:998 Albinism-deafness syndrome
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:56 Alkaptonuria
- OMIM:617822 Alkuraya-Kucinskas syndrome
- OMIM:300523 Allan-Herndon-Dudley syndrome
- ORPHA:93925 Alobar holoprosencephaly
- ORPHA:1006 Alopecia antibody deficiency
- OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome
- ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:79279 Alpha-N-acetylgalactosaminidase deficiency type 1
- ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:63 Alport syndrome
- OMIM:203780 Alport syndrome 2, autosomal recessive
- OMIM:104200 Alport syndrome 3, autosomal dominant
- OMIM:301050 Alport syndrome, X-linked
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:609924 Aminoacylase 1 deficiency
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- OMIM:300194 AMME complex
- OMIM:105210 Amyloidosis, hereditary, transthyretin-related
- OMIM:162100 Amyotrophy, hereditary neuralgic
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:1104 Anophthalmia plus syndrome
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome
- ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- ORPHA:83 Antley-Bixler syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- OMIM:301800 Anus, imperforate
- ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- ORPHA:2356 Arachnoid cyst
- ORPHA:137817 Arachnoiditis
- OMIM:616268 Arboleda-Tham syndrome
- OMIM:207780 AREDYLD
- ORPHA:1133 AREDYLD syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome
- OMIM:108120 Arthrogryposis, distal, type 1A
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:601680 Arthrogryposis, distal, type 2B
- OMIM:121070 Arthrogryposis, distal, type 2E
- OMIM:609128 Arthrogryposis, distal, type 4
- OMIM:108145 Arthrogryposis, distal, type 5
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- OMIM:108200 Arthrogryposis-Like hand anomaly and sensorineural deafness
- ORPHA:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- OMIM:301835 Arts syndrome
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- OMIM:208750 Ataxia, deafness, and cardiomyopathy
- OMIM:270500 Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
- ORPHA:1188 Ataxia-deafness-intellectual disability syndrome
- OMIM:208850 Ataxia-Deafness-Retardation syndrome
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- OMIM:108720 Atelosteogenesis, type I
- OMIM:601536 Athabaskan brainstem dysgenesis syndrome
- OMIM:209010 Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- ORPHA:1193 Atkin-Flaitz syndrome
- OMIM:108760 Atresia of external auditory canal and conduction deafness
- ORPHA:1344 Atrial standstill
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- OMIM:616580 Au-Kline syndrome
- OMIM:617717 Auditory neuropathy and optic atrophy
- OMIM:619832 Auditory neuropathy, autosomal dominant 3
- OMIM:609129 Auditory neuropathy, autosomal dominant, 1
- OMIM:607842 Aural atresia, congenital
- OMIM:209770 Aural atresia, multiple congenital anomalies, and mental retardation
- OMIM:109050 Auralcephalosyndactyly
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:137888 Auriculocondylar syndrome
- OMIM:602483 Auriculocondylar syndrome 1
- OMIM:614669 Auriculocondylar syndrome 2
- OMIM:615706 Auriculocondylar syndrome 3
- OMIM:109000 AURICULOOSTEODYSPLASIA
- ORPHA:114 Auriculoosteodysplasia
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:1215 Autosomal dominant optic atrophy plus syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:2514 Autosomal dominant primary microcephaly
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:100991 Autosomal dominant spastic paraplegia type 10
- ORPHA:100994 Autosomal dominant spastic paraplegia type 13
- ORPHA:101009 Autosomal dominant spastic paraplegia type 29
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:357058 Autosomal recessive cutis laxa type 2A
- ORPHA:1974 Autosomal recessive faciodigitogenital syndrome
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:314603 Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:209951 Autosomal recessive spastic paraplegia type 18
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101004 Autosomal recessive spastic paraplegia type 24
- ORPHA:101007 Autosomal recessive spastic paraplegia type 27
- ORPHA:320401 Autosomal recessive spastic paraplegia type 44
- ORPHA:320391 Autosomal recessive spastic paraplegia type 46
- ORPHA:319199 Autosomal recessive spastic paraplegia type 53
- ORPHA:100986 Autosomal recessive spastic paraplegia type 5A
- ORPHA:401830 Autosomal recessive spastic paraplegia type 69
- ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:250984 Autosomal recessive Stickler syndrome
- OMIM:109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- OMIM:602482 Axenfeld-Rieger syndrome, type 3
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:601088 Ayme-Gripp syndrome
Disease code
Disease name
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:79332 B4GALT1-CDG
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- OMIM:243310 Baraitser-Winter syndrome 1
- OMIM:614583 Baraitser-Winter syndrome 2
- OMIM:209885 Barber-Say syndrome
- ORPHA:1231 Barber-Say syndrome
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615993 Bardet-Biedl syndrome 16
- OMIM:604571 Bare lymphocyte syndrome, type I
- OMIM:149200 Bart-Pumphrey syndrome
- OMIM:302060 Barth syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:241200 Bartter syndrome, type 2
- OMIM:602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness
- OMIM:613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness
- OMIM:615483 Basal ganglia calcification, idiopathic, 5
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:301032 Basilicata-Akhtar syndrome
- ORPHA:113 Bazex-Dupré-Christol syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:618798 Beck-Fahrner syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:117 Behçet disease
- ORPHA:71518 Benign paroxysmal torticollis of infancy
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- ORPHA:252164 Benign schwannoma
- OMIM:614592 Bent bone dysplasia syndrome
- ORPHA:118 Beta-mannosidosis
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- OMIM:617595 Birk-Landau-Perez syndrome
- OMIM:262000 Bjornstad syndrome
- ORPHA:123 Björnstad syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:186580 Blau syndrome
- ORPHA:1997 Blepharo-cheilo-odontic syndrome
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:110100 Blepharophimosis, epicanthus inversus, and ptosis
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:614675 Bone marrow failure syndrome 1
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618116 Bone marrow failure syndrome 4
- ORPHA:107 BOR syndrome
- OMIM:600257 Bor-Duane hydrocephalus contiguous gene syndrome
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- OMIM:617412 Brachycephaly, trichomegaly, and developmental delay
- OMIM:610023 Brachydactyly, coloboma, and anterior segment dysgenesis
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:611377 Brachydactyly, type B2
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:52047 Braddock syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- OMIM:619981 Braddock-Carey syndrome 2
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- OMIM:613735 Brain malformations with or without urinary tract defects
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:301950 Branchial arch syndrome, X-linked
- ORPHA:1297 Branchio-oculo-facial syndrome
- ORPHA:50815 Branchiogenic deafness syndrome
- OMIM:609166 Branchiogenic-deafness syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:52429 Branchiootic syndrome
- OMIM:602588 Branchiootic syndrome 1
- OMIM:120502 Branchiootic syndrome 2
- OMIM:608389 Branchiootic syndrome 3
- OMIM:113650 Branchiootorenal syndrome 1
- OMIM:610896 Branchiootorenal syndrome 2
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:616001 Breasts and/or nipples, aplasia or hypoplasia of, 2
- ORPHA:85284 BRESEK syndrome
- ORPHA:90354 Brittle cornea syndrome
- OMIM:229200 Brittle cornea syndrome
- OMIM:614170 Brittle cornea syndrome 2
- ORPHA:79493 Brooke-Spiegler syndrome
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- OMIM:259450 Bruck syndrome 1
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- OMIM:619314 Buratti-Harel syndrome
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
Disease code
Disease name
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- OMIM:126550 Calvarial doughnut lesions with bone fragility
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1
- ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3
- OMIM:211910 Camptodactyly syndrome, guadalajara, type I
- OMIM:611929 Camptodactyly syndrome, Guadalajara, type III
- OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:271900 Canavan disease
- ORPHA:141 Canavan disease
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- OMIM:212100 Cardioauditory syndrome of sanchez cascos
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615278 Cardiofaciocutaneous syndrome 2
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- ORPHA:97292 Cardiogenic shock
- OMIM:605362 Cardiomyopathy, dilated, 1J
- OMIM:608758 Cardiomyopathy, familial hypertrophic, 10
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:3238 Cardiospondylocarpofacial syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- OMIM:619941 Carey-Fineman-Ziter syndrome 2
- ORPHA:97286 Carney-Stratakis syndrome
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:201000 Carpenter syndrome 1
- OMIM:614976 Carpenter syndrome 2
- ORPHA:175 Cartilage-hair hypoplasia
- OMIM:115470 Cat eye syndrome
- ORPHA:195 Cat-eye syndrome
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome
- ORPHA:1368 Cataract-ataxia-deafness syndrome
- OMIM:212710 Cataract-Ataxia-Deafness-Retardation syndrome
- ORPHA:1383 Cataract-deafness-hypogonadism syndrome
- ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- ORPHA:3286 Catecholaminergic polymorphic ventricular tachycardia
- OMIM:616145 Catel-Manzke syndrome
- ORPHA:1388 Catel-Manzke syndrome
- OMIM:618761 Catifa syndrome
- ORPHA:1123 Caudal appendage-deafness syndrome
- OMIM:603116 CDAGS syndrome
- OMIM:618774 CEBALID syndrome
- ORPHA:66631 CEDNIK syndrome
- ORPHA:3258 Cenani-Lenz syndrome
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- ORPHA:73256 Central neurocytoma
- OMIM:212850 Cerebellar ataxia and neurosensory deafness
- OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
- OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
- ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM:302700 Cerebral sclerosis, diffuse, Scholz type
- OMIM:300864 Cerebral-Cerebellar-Coloboma syndrome, X-linked
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- ORPHA:1394 Cerebrofaciothoracic dysplasia
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- OMIM:610756 Cerebrooculofacioskeletal syndrome 2
- OMIM:616570 Cerebrooculofacioskeletal syndrome 3
- OMIM:610758 Cerebrooculofacioskeletal syndrome 4
- OMIM:605627 Cerebrooculonasal syndrome
- ORPHA:66625 Cerebrooculonasal syndrome
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- OMIM:275630 Chanarin-Dorfman syndrome
- OMIM:169100 Char syndrome
- ORPHA:46627 Char syndrome
- OMIM:118300 Charcot-Marie-Tooth disease and deafness
- ORPHA:101082 Charcot-Marie-Tooth disease type 1B
- ORPHA:90658 Charcot-Marie-Tooth disease type 1E
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- ORPHA:99950 Charcot-Marie-Tooth disease type 4D
- OMIM:617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
- OMIM:609260 Charcot-marie-tooth disease, axonal, type 2A2A
- OMIM:613287 Charcot-Marie-Tooth disease, axonal, type 2N
- OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z
- OMIM:118220 Charcot-Marie-Tooth disease, demyelinating, type 1A
- OMIM:617882 Charcot-Marie-Tooth disease, dominant intermediate G
- OMIM:613641 Charcot-marie-tooth disease, recessive intermediate B
- OMIM:607736 Charcot-Marie-Tooth disease, type 2J
- OMIM:604563 Charcot-Marie-Tooth disease, type 4B2
- OMIM:601596 Charcot-Marie-Tooth disease, type 4C
- OMIM:601455 Charcot-Marie-Tooth disease, type 4D
- OMIM:616684 Charcot-Marie-Tooth disease, type 4K
- OMIM:300905 Charcot-Marie-Tooth disease, X-linked dominant, 6
- OMIM:311070 Charcot-Marie-Tooth disease, X-linked recessive, 5
- ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- OMIM:302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:302905 Charge-Like syndrome, X-linked
- ORPHA:1406 Charlie M syndrome
- OMIM:118420 Chiari malformation type I
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:243300 Cholestasis, benign recurrent intrahepatic 1
- OMIM:619658 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
- OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:614078 Chondrodysplasia with joint dislocations, Gpapp type
- OMIM:300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
- ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome
- ORPHA:319195 Chondroectodermal dysplasia with night blindness
- OMIM:616368 CHOPS syndrome
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- ORPHA:85278 Christianson syndrome
- OMIM:609625 Chromosome 10q26 deletion syndrome
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:613457 Chromosome 14q11-q22 deletion syndrome
- OMIM:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:612001 Chromosome 15q13.3 microdeletion syndrome
- OMIM:616898 Chromosome 15q14 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:612626 Chromosome 15q26-qter deletion syndrome
- OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- OMIM:616863 Chromosome 16p13.2 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb
- OMIM:614527 Chromosome 17q12 deletion syndrome
- OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome
- OMIM:146390 Chromosome 18p deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:617930 Chromosome 1p35 deletion syndrome
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:619343 Chromosome 1p36 deletion syndrome, proximal
- OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:614257 Chromosome 20q11-q12 deletion syndrome
- OMIM:608363 Chromosome 22q11.2 duplication syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:613792 Chromosome 3pter-p25 deletion syndrome
- OMIM:615433 Chromosome 3q13.31 deletion syndrome
- OMIM:609425 Chromosome 3q29 deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:613174 Chromosome 5p13 duplication syndrome
- OMIM:615668 Chromosome 5q12 deletion syndrome
- OMIM:612582 Chromosome 6pter-p24 deletion syndrome
- OMIM:613544 Chromosome 6q11-q14 deletion syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion syndrome
- OMIM:614230 Chromosome 8q21.11 deletion syndrome
- OMIM:158170 Chromosome 9P deletion syndrome
- OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- ORPHA:529808 Chronic bilirubin encephalopathy
- ORPHA:379 Chronic granulomatous disease
- OMIM:604213 Chudley-Mccullough syndrome
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:612518 Ciliary dyskinesia, primary, 10
- OMIM:612650 Ciliary dyskinesia, primary, 12
- OMIM:613193 Ciliary dyskinesia, primary, 13
- OMIM:613807 Ciliary dyskinesia, primary, 14
- OMIM:613808 Ciliary dyskinesia, primary, 15
- OMIM:614017 Ciliary dyskinesia, primary, 16
- OMIM:614874 Ciliary dyskinesia, primary, 18
- OMIM:614935 Ciliary dyskinesia, primary, 19
- OMIM:606763 Ciliary dyskinesia, primary, 2
- OMIM:615067 Ciliary dyskinesia, primary, 20
- OMIM:615294 Ciliary dyskinesia, primary, 21
- OMIM:615444 Ciliary dyskinesia, primary, 22
- OMIM:615451 Ciliary dyskinesia, primary, 23
- OMIM:615481 Ciliary dyskinesia, primary, 24
- OMIM:615500 Ciliary dyskinesia, primary, 26
- OMIM:615504 Ciliary dyskinesia, primary, 27
- OMIM:615505 Ciliary dyskinesia, primary, 28
- OMIM:608644 Ciliary dyskinesia, primary, 3, with or without situs inversus
- OMIM:616037 Ciliary dyskinesia, primary, 30
- OMIM:616481 Ciliary dyskinesia, primary, 32
- OMIM:616726 Ciliary dyskinesia, primary, 33
- OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked
- OMIM:617577 Ciliary dyskinesia, primary, 37
- OMIM:618063 Ciliary dyskinesia, primary, 38
- OMIM:618254 Ciliary dyskinesia, primary, 39
- OMIM:618449 Ciliary dyskinesia, primary, 41
- OMIM:618781 Ciliary dyskinesia, primary, 44
- OMIM:619436 Ciliary dyskinesia, primary, 46
- OMIM:619466 Ciliary dyskinesia, primary, 47, and lissencephaly
- OMIM:620032 Ciliary dyskinesia, primary, 48, without situs inversus
- OMIM:611884 Ciliary dyskinesia, primary, 7
- OMIM:612444 Ciliary dyskinesia, primary, 9, with or without situs inversus
- OMIM:619273 Cimdag syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- ORPHA:251383 CK syndrome
- OMIM:300831 Ck syndrome
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:1991 Cleft lip with or without cleft palate
- ORPHA:199306 Cleft lip/palate
- ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:225060 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly
- OMIM:600987 Cleft palate, cardiac defects, and mental retardation
- OMIM:216300 Cleft palate, deafness, and oligodontia
- OMIM:619074 Cleft palate, proliferative retinopathy, and developmental delay
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome
- ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome
- ORPHA:99772 Cleft velum
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome
- OMIM:119800 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
- ORPHA:228123 Coccidioidomycosis
- OMIM:120040 Cochleosaccular degeneration of the inner ear with progressive cataracts
- ORPHA:3233 Cochleosaccular degeneration-cataract syndrome
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:133540 Cockayne syndrome, type B
- ORPHA:1458 CODAS syndrome
- OMIM:600373 CODAS syndrome
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- OMIM:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614650 Coenzyme Q10 deficiency, primary, 6
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- ORPHA:192 Coffin-Lowry syndrome
- OMIM:303600 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:618506 Coffin-Siris syndrome 10
- OMIM:618779 Coffin-Siris syndrome 11
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:614607 Coffin-Siris syndrome 2
- OMIM:614608 Coffin-Siris syndrome 3
- OMIM:614609 Coffin-Siris syndrome 4
- OMIM:617808 Coffin-siris syndrome 6
- OMIM:618027 Coffin-Siris syndrome 7
- OMIM:615866 Coffin-Siris syndrome 9
- ORPHA:1466 COFS syndrome
- ORPHA:263508 COG1-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:1467 Cogan syndrome
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:617561 Cohen-Gibson syndrome
- OMIM:610313 Cold-Induced sweating syndrome 2
- OMIM:115250 Collagenoma, familial cutaneous
- OMIM:120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
- OMIM:617306 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- OMIM:617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- OMIM:312863 Combined immunodeficiency, X-linked
- ORPHA:319514 Combined oxidative phosphorylation defect type 13
- ORPHA:477774 Combined oxidative phosphorylation defect type 27
- OMIM:614922 Combined oxidative phosphorylation deficiency 11
- OMIM:614932 Combined oxidative phosphorylation deficiency 13
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:615440 Combined oxidative phosphorylation deficiency 17
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616672 Combined oxidative phosphorylation deficiency 27
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:617872 Combined oxidative phosphorylation deficiency 34
- OMIM:617950 Combined oxidative phosphorylation deficiency 36
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- ORPHA:1572 Common variable immunodeficiency
- OMIM:614379 Complement component 4B deficiency
- OMIM:610984 Complement factor I deficiency
- ORPHA:3216 Conductive deafness-malformed external ear syndrome
- ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome
- OMIM:600624 Cone-Rod dystrophy 1
- OMIM:617236 Cone-rod dystrophy and hearing loss
- OMIM:618358 Cone-rod dystrophy and hearing loss 2
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- OMIM:614482 Congenital cataracts, hearing loss, and neurodegeneration
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:619775 Congenital disorder of deglycosylation 2
- OMIM:619493 Congenital disorder of glycosylation, type 2V
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:617082 Congenital disorder of glycosylation, type IAA
- OMIM:601110 Congenital disorder of glycosylation, type Id
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:266265 Congenital disorder of glycosylation, type IIc
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:613612 Congenital disorder of glycosylation, type IIi
- OMIM:614727 Congenital disorder of glycosylation, type IIK
- OMIM:616721 Congenital disorder of glycosylation, type IIN
- OMIM:301045 Congenital disorder of glycosylation, type IIr
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:613661 Congenital disorder of glycosylation, type Ip
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:293603 Congenital hereditary endothelial dystrophy type II
- ORPHA:2185 Congenital hydrocephalus
- ORPHA:442 Congenital hypothyroidism
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- ORPHA:2291 Congenital velopharyngeal incompetence
- ORPHA:420794 Cono-spondylar dysplasia
- OMIM:121050 Contractural arachnodactyly, congenital
- OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1488 Cooper-Jabs syndrome
- ORPHA:1490 Corneal dystrophy-perceptive deafness syndrome
- OMIM:217400 Corneal endothelial dystrophy and perceptive deafness
- OMIM:122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:610759 Cornelia de Lange syndrome 3
- OMIM:614701 Cornelia de Lange syndrome 4
- OMIM:300882 Cornelia de Lange syndrome 5
- ORPHA:3194 Corneodermatoosseous syndrome
- ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome
- ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia
- OMIM:616819 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
- OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence
- OMIM:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia
- ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:260660 Cousin syndrome
- OMIM:310490 Cowchock syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:122780 Coxoauricular syndrome
- ORPHA:1508 Coxoauricular syndrome
- ORPHA:202 Crandall syndrome
- ORPHA:1512 Crane-Heise syndrome
- OMIM:218100 Cranial nerves, congenital paresis of
- ORPHA:1513 Craniodiaphyseal dysplasia
- OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614378 Cranioectodermal dysplasia 4
- OMIM:614195 Craniofacial anomalies and anterior segment dysgenesis syndrome
- OMIM:616994 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- OMIM:218350 Craniofacial dyssynostosis with short stature
- OMIM:122880 Craniofacial-Deafness-Hand syndrome
- ORPHA:1529 Craniofacial-deafness-hand syndrome
- OMIM:114620 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- ORPHA:1520 Craniofrontonasal dysplasia
- OMIM:269300 Craniometadiaphyseal dysplasia
- ORPHA:1522 Craniometaphyseal dysplasia
- OMIM:123000 Craniometaphyseal dysplasia, autosomal dominant
- OMIM:218400 Craniometaphyseal dysplasia, autosomal recessive
- ORPHA:54595 Craniopharyngioma
- OMIM:616602 Craniosynostosis 6
- OMIM:614188 Craniosynostosis and dental anomalies
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- ORPHA:1528 Craniotelencephalic dysplasia
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:606851 Cree mental retardation syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:205 Crigler-Najjar syndrome
- ORPHA:79234 Crigler-Najjar syndrome type 1
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- ORPHA:2935 Crossed polysyndactyly
- ORPHA:207 Crouzon syndrome
- OMIM:123500 Crouzon syndrome
- ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome
- ORPHA:1546 Cryptococcosis
- OMIM:123560 Cryptomicrotia-Brachydactyly syndrome
- OMIM:123557 Cryptotia, familial
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:616603 Cutis laxa, autosomal dominant 3
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:219200 Cutis laxa, autosomal recessive, type IIA
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- OMIM:617402 Cutis laxa, autosomal recessive, type IIC
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:619451 Cutis laxa, autosomal recessive, type IIE
- OMIM:219150 Cutis laxa, autosomal recessive, type IIIA
- OMIM:614438 Cutis laxa, autosomal recessive, type IIIB
- ORPHA:2686 Cyclic neutropenia
- OMIM:500007 Cyclic vomiting syndrome
- ORPHA:212 Cystathioninuria
- ORPHA:586 Cystic fibrosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- ORPHA:2437 Czeizel-Losonci syndrome
Disease code
Disease name
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:941 D-glyceric aciduria
- OMIM:220220 Dandy-Walker malformation with postaxial polydactyly
- OMIM:124300 Darwinian point of pinna
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type
- OMIM:221200 Deafness and myopia
- OMIM:125050 Deafness with anhidrotic ectodermal dysplasia
- ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia
- OMIM:580000 Deafness, aminoglycoside-induced
- OMIM:124900 Deafness, autosomal dominant 1
- OMIM:602459 Deafness, autosomal dominant 15
- OMIM:603964 Deafness, autosomal dominant 16
- OMIM:606012 Deafness, autosomal dominant 18
- OMIM:604717 Deafness, autosomal dominant 20
- OMIM:607017 Deafness, autosomal dominant 21
- OMIM:606346 Deafness, autosomal dominant 22
- OMIM:605192 Deafness, autosomal dominant 23
- OMIM:606282 Deafness, autosomal dominant 24
- OMIM:605583 Deafness, autosomal dominant 25
- OMIM:612431 Deafness, autosomal dominant 27
- OMIM:612644 Deafness, autosomal dominant 2B
- OMIM:606451 Deafness, autosomal dominant 30
- OMIM:608645 Deafness, autosomal dominant 31
- OMIM:614211 Deafness, autosomal dominant 33
- OMIM:606705 Deafness, autosomal dominant 36
- OMIM:618533 Deafness, autosomal dominant 37
- OMIM:605594 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
- OMIM:612643 Deafness, autosomal dominant 3B
- OMIM:616357 Deafness, autosomal dominant 40
- OMIM:608224 Deafness, autosomal dominant 41
- OMIM:608394 Deafness, autosomal dominant 43
- OMIM:607453 Deafness, autosomal dominant 44
- OMIM:608652 Deafness, autosomal dominant 47
- OMIM:607841 Deafness, autosomal dominant 48
- OMIM:614614 Deafness, autosomal dominant 4B
- OMIM:613074 Deafness, autosomal dominant 50
- OMIM:613558 Deafness, autosomal dominant 51
- OMIM:607683 Deafness, autosomal dominant 52
- OMIM:609965 Deafness, autosomal dominant 53
- OMIM:615649 Deafness, autosomal dominant 54
- OMIM:615629 Deafness, autosomal dominant 56
- OMIM:615654 Deafness, autosomal dominant 58
- OMIM:612642 Deafness, autosomal dominant 59
- OMIM:600965 Deafness, autosomal dominant 6
- OMIM:614152 Deafness, autosomal dominant 64
- OMIM:616044 Deafness, autosomal dominant 65
- OMIM:616969 Deafness, autosomal dominant 66
- OMIM:616340 Deafness, autosomal dominant 67
- OMIM:616707 Deafness, autosomal dominant 68
- OMIM:616697 Deafness, autosomal dominant 69
- OMIM:616968 Deafness, autosomal dominant 70
- OMIM:617605 Deafness, autosomal dominant 71
- OMIM:617606 Deafness, autosomal dominant 72
- OMIM:617663 Deafness, autosomal dominant 73
- OMIM:618140 Deafness, autosomal dominant 74
- OMIM:618778 Deafness, autosomal dominant 75
- OMIM:618787 Deafness, autosomal dominant 76
- OMIM:618915 Deafness, autosomal dominant 77
- OMIM:619081 Deafness, autosomal dominant 78
- OMIM:619086 Deafness, autosomal dominant 79
- OMIM:619274 Deafness, autosomal dominant 80
- OMIM:619500 Deafness, autosomal dominant 81
- OMIM:619804 Deafness, autosomal dominant 82
- OMIM:619808 Deafness, autosomal dominant 83
- OMIM:619810 Deafness, autosomal dominant 84
- OMIM:601369 Deafness, autosomal dominant 9
- OMIM:601316 Deafness, autosomal dominant nonsyndromic sensorineural 10
- OMIM:601317 Deafness, autosomal dominant nonsyndromic sensorineural 11
- OMIM:601543 Deafness, autosomal dominant nonsyndromic sensorineural 12
- OMIM:601868 Deafness, autosomal dominant nonsyndromic sensorineural 13
- OMIM:603622 Deafness, autosomal dominant nonsyndromic sensorineural 17
- OMIM:600101 Deafness, autosomal dominant nonsyndromic sensorineural 2
- OMIM:608641 Deafness, autosomal dominant nonsyndromic sensorineural 28
- OMIM:601544 Deafness, autosomal dominant nonsyndromic sensorineural 3
- OMIM:600652 Deafness, autosomal dominant nonsyndromic sensorineural 4
- OMIM:608372 Deafness, autosomal dominant nonsyndromic sensorineural 49
- OMIM:600994 Deafness, autosomal dominant nonsyndromic sensorineural 5
- OMIM:601412 Deafness, autosomal dominant nonsyndromic sensorineural 7
- OMIM:618422 Deafness, autosomal recessive 100
- OMIM:615837 Deafness, autosomal recessive 101
- OMIM:615974 Deafness, autosomal recessive 102
- OMIM:616042 Deafness, autosomal recessive 103
- OMIM:616515 Deafness, autosomal recessive 104
- OMIM:617637 Deafness, autosomal recessive 106
- OMIM:617639 Deafness, autosomal recessive 107
- OMIM:617654 Deafness, autosomal recessive 108
- OMIM:618013 Deafness, autosomal recessive 109
- OMIM:618094 Deafness, autosomal recessive 110
- OMIM:618145 Deafness, autosomal recessive 111
- OMIM:618257 Deafness, autosomal recessive 112
- OMIM:618410 Deafness, autosomal recessive 113
- OMIM:618456 Deafness, autosomal recessive 114
- OMIM:618457 Deafness, autosomal recessive 115
- OMIM:619093 Deafness, autosomal recessive 116
- OMIM:619174 Deafness, autosomal recessive 117
- OMIM:619553 Deafness, autosomal recessive 118, with cochlear aplasia
- OMIM:619615 Deafness, autosomal recessive 119
- OMIM:601386 Deafness, autosomal recessive 12
- OMIM:603098 Deafness, autosomal recessive 13
- OMIM:603678 Deafness, autosomal recessive 14
- OMIM:601869 Deafness, autosomal recessive 15
- OMIM:603720 Deafness, autosomal recessive 16
- OMIM:603010 Deafness, autosomal recessive 17
- OMIM:614945 Deafness, autosomal recessive 18B
- OMIM:220290 Deafness, autosomal recessive 1A
- OMIM:612645 Deafness, autosomal recessive 1B
- OMIM:604060 Deafness, autosomal recessive 20
- OMIM:603629 Deafness, autosomal recessive 21
- OMIM:607039 Deafness, autosomal recessive 22
- OMIM:609533 Deafness, autosomal recessive 23
- OMIM:613285 Deafness, autosomal recessive 25
- OMIM:605428 Deafness, autosomal recessive 26
- OMIM:605818 Deafness, autosomal recessive 27
- OMIM:609823 Deafness, autosomal recessive 28
- OMIM:614035 Deafness, autosomal recessive 29
- OMIM:607101 Deafness, autosomal recessive 30
- OMIM:607084 Deafness, autosomal recessive 31
- OMIM:608653 Deafness, autosomal recessive 32, with or without immotile sperm
- OMIM:607239 Deafness, autosomal recessive 33
- OMIM:608565 Deafness, autosomal recessive 35
- OMIM:609006 Deafness, autosomal recessive 36, with or without vestibular involvement
- OMIM:607821 Deafness, autosomal recessive 37
- OMIM:600791 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
- OMIM:610154 Deafness, autosomal recessive 44
- OMIM:612433 Deafness, autosomal recessive 45
- OMIM:609946 Deafness, autosomal recessive 47
- OMIM:609439 Deafness, autosomal recessive 48
- OMIM:610153 Deafness, autosomal recessive 49
- OMIM:609941 Deafness, autosomal recessive 51
- OMIM:609706 Deafness, autosomal recessive 53
- OMIM:609952 Deafness, autosomal recessive 55
- OMIM:618003 Deafness, autosomal recessive 57
- OMIM:610220 Deafness, autosomal recessive 59
- OMIM:600971 Deafness, autosomal recessive 6
- OMIM:613865 Deafness, autosomal recessive 61
- OMIM:610143 Deafness, autosomal recessive 62
- OMIM:611451 Deafness, autosomal recessive 63
- OMIM:610248 Deafness, autosomal recessive 65
- OMIM:610212 Deafness, autosomal recessive 66
- OMIM:610265 Deafness, autosomal recessive 67
- OMIM:610419 Deafness, autosomal recessive 68
- OMIM:614934 Deafness, autosomal recessive 70
- OMIM:612789 Deafness, autosomal recessive 71
- OMIM:613718 Deafness, autosomal recessive 74
- OMIM:615540 Deafness, autosomal recessive 76
- OMIM:613079 Deafness, autosomal recessive 77
- OMIM:613307 Deafness, autosomal recessive 79
- OMIM:601072 Deafness, autosomal recessive 8/10
- OMIM:613685 Deafness, autosomal recessive 83
- OMIM:613391 Deafness, autosomal recessive 84
- OMIM:614944 Deafness, autosomal recessive 84B
- OMIM:613392 Deafness, autosomal recessive 85
- OMIM:614617 Deafness, autosomal recessive 86
- OMIM:615429 Deafness, autosomal recessive 88
- OMIM:613916 Deafness, autosomal recessive 89
- OMIM:601071 Deafness, autosomal recessive 9
- OMIM:613453 Deafness, autosomal recessive 91
- OMIM:614899 Deafness, autosomal recessive 93
- OMIM:618434 Deafness, autosomal recessive 94
- OMIM:614414 Deafness, autosomal recessive 96
- OMIM:616705 Deafness, autosomal recessive 97
- OMIM:614861 Deafness, autosomal recessive 98
- OMIM:618481 Deafness, autosomal recessive 99
- OMIM:611022 Deafness, autosomal recessive, 24
- OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuropathy
- OMIM:300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
- OMIM:221300 Deafness, conductive, with malformed external ear
- OMIM:221320 Deafness, conductive, with ptosis and skeletal anomalies
- OMIM:617992 Deafness, congenital heart defects, and posterior embryotoxon
- OMIM:608219 Deafness, congenital neurosensory, autosomal recessive 38
- OMIM:608265 Deafness, congenital neurosensory, autosomal recessive 39
- OMIM:608264 Deafness, congenital neurosensory, autosomal recessive 40
- OMIM:619196 Deafness, congenital, and adult-onset progressive leukoencephalopathy
- OMIM:124480 Deafness, congenital, and onychodystrophy, autosomal dominant
- OMIM:610706 Deafness, congenital, with inner ear agenesis, microtia, and microdontia
- OMIM:220900 Deafness, congenital, with total albinism
- OMIM:221350 Deafness, congenital, with vitiligo and achalasia
- OMIM:300475 Deafness, dystonia, and cerebral hypomyelination
- OMIM:124700 Deafness, mid-tone neural
- OMIM:221400 Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy
- OMIM:221500 Deafness, neural, congenital moderate
- OMIM:221700 Deafness, neural, with atypical atopic dermatitis
- OMIM:602092 Deafness, neurosensory, autosomal recessive 18
- OMIM:600060 Deafness, neurosensory, autosomal recessive 2
- OMIM:600316 Deafness, neurosensory, autosomal recessive 3
- OMIM:609646 Deafness, neurosensory, autosomal recessive 42
- OMIM:609647 Deafness, neurosensory, autosomal recessive 46
- OMIM:600792 Deafness, neurosensory, autosomal recessive 5
- OMIM:600974 Deafness, neurosensory, autosomal recessive 7
- OMIM:601449 Deafness, progressive, with stapes fixation
- OMIM:611102 Deafness, sensorineural, and male infertility
- OMIM:221745 Deafness, sensorineural, Autosomal-Mitochondrial type
- OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease
- OMIM:221750 Deafness, sensorineural, with pituitary dwarfism
- OMIM:125000 Deafness, unilateral
- OMIM:612097 Deafness, unilateral, with delayed endolymphatic hydrops
- OMIM:304500 Deafness, X-linked 1
- OMIM:304400 Deafness, X-linked 2
- OMIM:300030 Deafness, X-linked 3
- OMIM:300066 Deafness, X-linked 4
- OMIM:300614 Deafness, X-linked 5
- OMIM:300914 Deafness, X-linked 6
- OMIM:301018 Deafness, X-linked 7
- OMIM:400043 DEAFNESS, Y-LINKED 1
- OMIM:400047 DEAFNESS, Y-LINKED 2
- ORPHA:3241 Deafness-craniofacial syndrome
- OMIM:125230 Deafness-Craniofacial syndrome
- ORPHA:3232 Deafness-ear malformation-facial palsy syndrome
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:94064 Deafness-infertility syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- OMIM:221740 Deafness-Oligodontia syndrome
- ORPHA:3230 Deafness-oligodontia syndrome
- ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome
- ORPHA:3239 Deafness-vitiligo-achalasia syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- OMIM:619083 Delpire-Mcneill syndrome
- OMIM:117300 Dementia, familial danish
- ORPHA:79134 DEND syndrome
- OMIM:619877 Dentici-Novelli neurodevelopmental syndrome
- ORPHA:49042 Dentinogenesis imperfecta
- ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- OMIM:221790 DERMATOLEUKODYSTROPHY
- ORPHA:99688 Dermotrichic syndrome
- OMIM:616708 Desanto-Shinawi syndrome
- ORPHA:1425 Desbuquois syndrome
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:618298 Developmental and epileptic encephalopathy 70
- OMIM:618379 Developmental and epileptic encephalopathy 73
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- OMIM:616901 Developmental delay with short stature, dysmorphic features, and sparse hair
- OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:619694 Developmental delay with variable neurologic and brain abnormalities
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- OMIM:619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:617991 Developmental delay, intellectual disability, obesity, and dysmorphic features
- ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ORPHA:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:221950 Dextrocardia with unusual facies and microphthalmia
- OMIM:520000 Diabetes and deafness, maternally inherited
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- ORPHA:1926 Diabetic embryopathy
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:608022 Diaphanospondylodysostosis
- OMIM:601163 Diaphragmatic defects, limb deficiencies, and ossification defects of skull
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- OMIM:270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- ORPHA:1672 Diencephalic syndrome
- OMIM:618846 Diets-Jongmans syndrome
- OMIM:188400 Digeorge syndrome
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:1681 Diprosopus
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- OMIM:223200 Disorganization, mouse, homolog of
- ORPHA:319171 Distal 17p13.1 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:1307 Distal limb deficiencies-micrognathia syndrome
- ORPHA:1580 Distal monosomy 10p
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:36367 Distal monosomy 1q
- ORPHA:1620 Distal monosomy 3p
- ORPHA:96125 Distal monosomy 6p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:18 Distal renal tubular acidosis
- OMIM:602722 Distal renal tubular acidosis 3, with or without sensorineural hearing loss
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1705 Distal trisomy 14q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:246200 Donohue syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:233 Duane retraction syndrome
- OMIM:617041 Duane retraction syndrome 3 with or without deafness
- OMIM:607323 Duane-Radial ray syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:97339 Dural sinus malformation
- OMIM:223500 Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- ORPHA:239 Dyggve-Melchior-Clausen disease
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:241 Dyschromatosis universalis hereditaria
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- ORPHA:1782 Dysosteosclerosis
- OMIM:224300 DYSOSTEOSCLEROSIS
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:607371 Dystonia, juvenile-onset
Disease code
Disease name
- OMIM:128290 Ear antitragus, tag at base of
- OMIM:128300 Ear exostoses
- OMIM:128500 Ear folding
- OMIM:128600 Ear malformation
- OMIM:128710 Ear pits, posterior helical
- OMIM:128800 Ear without helix
- ORPHA:2554 Ear-patella-short stature syndrome
- OMIM:128980 Earlobes, thickened, with conductive deafness from incudostapedialabnormalities
- ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- OMIM:129000 Earring holes, natural
- ORPHA:199343 EAST syndrome
- OMIM:618180 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
- OMIM:224800 Ectodermal dysplasia and neurosensory deafness
- OMIM:600906 Ectodermal dysplasia with mental retardation and syndactyly
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome
- OMIM:613576 Ectodermal dysplasia-syndactyly syndrome 2
- ORPHA:231632 Ectopic aldosterone-producing tumor
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- ORPHA:1895 Edinburgh malformation syndrome
- ORPHA:1896 EEC syndrome
- OMIM:608763 Ehlers-danlos syndrome, Beasley-Cohen type
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:615539 Ehlers-Danlos syndrome, musculocontractural type, 2
- OMIM:130070 Ehlers-Danlos syndrome, spondylodysplastic type, 1
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:97214 Eisenmenger syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- OMIM:617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:2790 Endosteal hyperostosis, Worth type
- OMIM:226500 Epidermolysis bullosa dystrophica neurotrophica
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia
- OMIM:612138 Epidermolysis bullosa simplex with pyloric atresia
- ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:619817 Epidermolysis bullosa, junctional 6, with pyloric atresia
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:607682 Epilepsy, idiopathic generalized, susceptibility to, 9
- OMIM:301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
- OMIM:615859 Epileptic encephalopathy, early infantile, 23
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:617281 Epileptic encephalopathy, early infantile, 49
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618004 Epileptic encephalopathy, early infantile, 64
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618663 Epileptic encephalopathy, early infantile, 81
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- OMIM:618792 Epileptic encephalopathy, early infantile, 84
- OMIM:226950 Epiphyseal dysplasia of femoral head, myopia, and deafness
- OMIM:132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:37612 Episodic ataxia type 1
- ORPHA:79135 Episodic ataxia type 3
- ORPHA:79136 Episodic ataxia type 4
- ORPHA:211067 Episodic ataxia type 5
- ORPHA:209967 Episodic ataxia type 6
- ORPHA:209970 Episodic ataxia type 7
- OMIM:160120 Episodic ataxia, type 1
- OMIM:108500 Episodic ataxia, type 2
- OMIM:606554 Episodic ataxia, type 3
- OMIM:606552 Episodic ataxia, type 4
- OMIM:613855 Episodic ataxia, type 5
- OMIM:612656 Episodic ataxia, type 6
- OMIM:611907 Episodic ataxia, type 7
- OMIM:618924 Episodic ataxia, type 9
- ORPHA:999 Ermine phenotype
- OMIM:227010 Ermine phenotype
- OMIM:133100 Erythrocytosis, familial, 1
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:616854 Even-Plus syndrome
- OMIM:133500 Exchondrosis of pinna, posterior
- ORPHA:466650 Exercise-induced malignant hyperthermia
- ORPHA:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome
- OMIM:133705 External auditory canal, bilateral atresia of, with congenital verticaltalus
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Disease code
Disease name
- ORPHA:324 Fabry disease
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- OMIM:604185 Facial paresis, hereditary congenital, 2
- OMIM:614744 Facial paresis, hereditary congenital, 3
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227280 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- ORPHA:269 Facioscapulohumeral dystrophy
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:158901 Facioscapulohumeral muscular dystrophy 2
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- OMIM:174810 Familial expansile osteolysis
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:154 Familial isolated dilated cardiomyopathy
- ORPHA:569 Familial or sporadic hemiplegic migraine
- ORPHA:2769 Familial osteodysplasia, Anderson type
- ORPHA:97 Familial paroxysmal ataxia
- ORPHA:871 Familial progressive cardiac conduction defect
- ORPHA:79147 Familial reactive perforating collagenosis
- ORPHA:71493 Familial thrombocytosis
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:2604 Familial visceral myopathy
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:615272 Fanconi anemia, complementation group Q
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency
- OMIM:619376 Faundes-Banka syndrome
- OMIM:153640 Fechtner syndrome
- ORPHA:1305 Feingold syndrome
- OMIM:164280 Feingold syndrome 1
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:47612 Felty syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:619699 Ferguson-Bonni neurodevelopmental syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- OMIM:618393 Fetal akinesia deformation sequence 4
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- ORPHA:294 Fetal cytomegalovirus syndrome
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:1912 Fetal hydantoin syndrome
- OMIM:228355 Fetal iodine deficiency disorder
- ORPHA:1910 Fetal iodine syndrome
- ORPHA:1917 Fetal methylmercury syndrome
- ORPHA:1918 Fetal minoxidil syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- OMIM:300321 Fg syndrome 2
- OMIM:300422 Fg syndrome 4
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- ORPHA:2021 Fibrochondrogenesis
- OMIM:228520 Fibrochondrogenesis 1
- ORPHA:337 Fibrodysplasia ossificans progressiva
- OMIM:135100 Fibrodysplasia ossificans progressiva
- OMIM:135300 Fibromatosis, gingival, 1
- OMIM:135550 Fibromatosis, gingival, with progressive deafness
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- OMIM:228940 Fibuloulnar aplasia or hypoplasia with renal abnormalities
- ORPHA:1968 Flat face-microstomia-ear anomaly syndrome
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- OMIM:136300 Flynn-Aird syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- OMIM:136500 Focal facial dermal dysplasia 1, Brauer type
- ORPHA:398173 Focal facial dermal dysplasia type II
- ORPHA:79097 Folinic acid-responsive seizures
- OMIM:612289 Fontaine progeroid syndrome
- OMIM:613606 Forsythe-Wakeling syndrome
- OMIM:229120 Fountain syndrome
- ORPHA:3219 Fountain syndrome
- ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:609640 Frias syndrome
- ORPHA:85335 Fried syndrome
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- OMIM:613451 Frontonasal dysplasia 2
- OMIM:613456 Frontonasal dysplasia 3
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- OMIM:605321 Frontoocular syndrome
- ORPHA:391474 Frontorhiny
- OMIM:615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- ORPHA:275872 Frontotemporal dementia with motor neuron disease
- OMIM:600776 Fryns microphthalmia syndrome
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- ORPHA:637 Full NF2-related schwannomatosis
- ORPHA:228119 Fusariosis
Disease code
Disease name
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- OMIM:230350 Galactose epimerase deficiency
- ORPHA:351 Galactosialidosis
- OMIM:256540 Galactosialidosis
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:617731 Galloway-Mowat syndrome 5
- OMIM:618349 Galloway-Mowat syndrome 8
- OMIM:619603 Galloway-Mowat syndrome 9
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- ORPHA:355 Gaucher disease
- OMIM:608013 Gaucher disease, perinatal lethal
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:231050 Geleophysic dysplasia 1
- ORPHA:2074 Gemignani syndrome
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:2075 Genitopalatocardiac syndrome
- OMIM:231060 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- ORPHA:2077 German syndrome
- ORPHA:397 Giant cell arteritis
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:263800 Gitelman syndrome
- OMIM:612313 Glass syndrome
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:221098 Glossopharyngeal neuralgia
- OMIM:610015 Glutamine deficiency, congenital
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:307030 Glycerol kinase deficiency
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- OMIM:232300 Glycogen storage disease II
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- OMIM:618010 Glycosylphosphatidylinositol biosynthesis defect 17
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- ORPHA:2090 GMS syndrome
- OMIM:138770 Gms syndrome
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen syndrome
- OMIM:601853 Gomez-Lopez-Hernandez syndrome
- ORPHA:1532 Gómez-López-Hernández syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:376 Gordon syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- ORPHA:53693 GRACILE syndrome
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:215140 Greenberg skeletal dysplasia
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
- OMIM:617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
- ORPHA:414 Gyrate atrophy of choroid and retina
Disease code
Disease name
- ORPHA:168569 H syndrome
- ORPHA:99803 Haddad syndrome
- OMIM:612946 Hadziselimovic syndrome
- OMIM:425500 HAIRY EARS, Y-LINKED
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:93946 Hamel cerebro-palato-cardiac syndrome
- ORPHA:2438 Hand-foot-genital syndrome
- OMIM:301068 Hardikar syndrome
- ORPHA:457 Harlequin ichthyosis
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2117 Hartsfield syndrome
- OMIM:615465 Hartsfield syndrome
- ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:1350 Heart-hand syndrome type 2
- OMIM:234580 Heimler syndrome 1
- OMIM:616617 Heimler syndrome 2
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:141300 Hemifacial atrophy, progressive
- OMIM:164210 Hemifacial microsomia
- OMIM:141400 Hemifacial microsomia with radial defects
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- OMIM:601152 Hereditary motor and sensory neuropathy VI
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:608233 Hermansky-Pudlak syndrome 2
- ORPHA:2139 Hernández-Aguirre Negrete syndrome
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- OMIM:619607 Heterotaxy, visceral, 10, autosomal, with male infertility
- OMIM:619608 Heterotaxy, visceral, 11, autosomal, with male infertility
- OMIM:618948 Heterotaxy, visceral, 9, autosomal, with male infertility
- OMIM:619311 Hiatt-Neu-Cooper neurodevelopmental syndrome
- ORPHA:189 Hidrotic ectodermal dysplasia
- ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type
- ORPHA:388 Hirschsprung disease
- OMIM:235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- ORPHA:2155 Hirschsprung disease-deafness-polydactyly syndrome
- OMIM:235830 Histidinuria due to A renal tubular defect
- ORPHA:2158 Histidinuria-renal tubular defect syndrome
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:2162 Holoprosencephaly
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:301043 Holoprosencephaly 13, X-linked
- OMIM:619895 Holoprosencephaly 14
- OMIM:609637 Holoprosencephaly 5
- OMIM:610828 Holoprosencephaly 7
- OMIM:610829 Holoprosencephaly 9
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:606528 Homozygous 11p15-p14 deletion syndrome
- ORPHA:2744 Horizontal gaze palsy with progressive scoliosis
- ORPHA:391417 HSD10 disease
- ORPHA:391428 HSD10 disease, infantile type
- OMIM:300438 HSD10 mitochondrial disease
- OMIM:236410 Humeroradial synostosis with craniofacial anomalies
- OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:2177 Hydranencephaly
- OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies
- OMIM:600991 Hydrocephalus, skeletal anomalies, and mental disturbance
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:79155 Hydroxykynureninuria
- OMIM:260920 Hyper-Igd syndrome
- OMIM:618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:618944 Hyper-IgE recurrent infection syndrome 5, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- OMIM:238340 HYPERLEUCINE-ISOLEUCINEMIA
- OMIM:144300 Hyperlipoproteinemia, type II, and deafness
- ORPHA:2203 Hyperlysinemia
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:239100 Hyperostosis corticalis generalisata
- ORPHA:3416 Hyperostosis corticalis generalisata
- OMIM:144755 Hyperostosis cranialis interna
- OMIM:144750 Hyperostosis, endosteal
- OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:614207 Hyperphosphatasia with mental retardation syndrome 3
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239800 Hypertelorism, microtia, facial clefting syndrome
- OMIM:614187 Hypertelorism, preauricular sinus, punctal pits, and deafness
- ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- ORPHA:2222 Hypertrichosis lanuginosa congenita
- OMIM:600627 HYPERTRYPTOPHANEMIA
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:612776 Hypoglossia with situs inversus
- OMIM:615266 Hypogonadotropic hypogonadism 17 with or without anosmia
- OMIM:615267 Hypogonadotropic hypogonadism 18 with or without anosmia
- OMIM:615269 Hypogonadotropic hypogonadism 19 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:615271 Hypogonadotropic hypogonadism 21 with or without anosmia
- OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia
- OMIM:612370 Hypogonadotropic hypogonadism 5 with or without anosmia
- OMIM:612702 Hypogonadotropic hypogonadism 6 with or without anosmia
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- OMIM:619406 Hypokalemic tubulopathy and deafness
- OMIM:613882 Hypomagnesemia 6, renal
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:146255 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- OMIM:241520 Hypophosphatemic rickets, autosomal recessive
- ORPHA:722 Hypoplasminogenemia
- OMIM:603463 Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
- ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- OMIM:612841 Hypotrichosis 5
- OMIM:614237 Hypotrichosis 9
Disease code
Disease name
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:602540 Ichthyosis, hystrix-like, with deafness
- OMIM:618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- ORPHA:238624 Idiopathic intracranial hypertension
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:85173 IMAGe syndrome
- OMIM:615518 Immunodeficiency 13
- OMIM:618204 Immunodeficiency 15A
- OMIM:615607 Immunodeficiency 17
- OMIM:615615 Immunodeficiency 18
- OMIM:615617 Immunodeficiency 19
- OMIM:615707 Immunodeficiency 20
- OMIM:615816 Immunodeficiency 23
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:616433 Immunodeficiency 40
- OMIM:300972 Immunodeficiency 47
- OMIM:617237 Immunodeficiency 49
- OMIM:613953 Immunodeficiency 51
- OMIM:617585 Immunodeficiency 53
- OMIM:615207 Immunodeficiency 56
- OMIM:618131 Immunodeficiency 58
- OMIM:300310 Immunodeficiency 61
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:618847 Immunodeficiency 66
- OMIM:618982 Immunodeficiency 72 with autoinflammation
- OMIM:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- OMIM:619223 Immunodeficiency 77
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:619238 Immunodeficiency 79
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619774 Immunodeficiency 96
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:613493 Immunodeficiency, common variable, 3
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- OMIM:242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome
- OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome
- ORPHA:464 Incontinentia pigmenti
- ORPHA:178478 Infant botulism
- OMIM:614559 Infantile cerebellar-retinal degeneration
- ORPHA:206436 Infantile Krabbe disease
- OMIM:615438 Infantile liver failure syndrome 1
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia
- ORPHA:772 Infantile Refsum disease
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1186 Infantile-onset spinocerebellar ataxia
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- ORPHA:63259 Iniencephaly
- OMIM:608747 Insulin-Like growth factor I deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:97279 Insulinoma
- OMIM:618522 Intellectual developmental disorder 59
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
- OMIM:617333 Intellectual developmental disorder with dysmorphic facies and ptosis
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618147 Intellectual developmental disorder with hypertelorism and distinctive facies
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
- OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features
- OMIM:617101 Intellectual developmental disorder with persistence of fetal hemoglobin
- OMIM:618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:615761 Intellectual developmental disorder, autosomal dominant 23
- OMIM:615834 Intellectual developmental disorder, autosomal dominant 26
- OMIM:616083 Intellectual developmental disorder, autosomal dominant 30
- OMIM:616393 Intellectual developmental disorder, autosomal dominant 38
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:617854 Intellectual developmental disorder, autosomal dominant 56
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619320 Intellectual developmental disorder, autosomal dominant 65
- OMIM:619910 Intellectual developmental disorder, autosomal dominant 66
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:615817 Intellectual developmental disorder, autosomal recessive 43
- OMIM:616116 Intellectual developmental disorder, autosomal recessive 46
- OMIM:617773 Intellectual developmental disorder, autosomal recessive 61
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618295 Intellectual developmental disorder, autosomal recessive 67
- OMIM:618302 Intellectual developmental disorder, autosomal recessive 68
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:618665 Intellectual developmental disorder, autosomal recessive 72
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type
- OMIM:301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
- OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:166108 Intellectual disability, Birk-Barel type
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
- ORPHA:171433 Intermediate nemaline myopathy
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:620045 Intestinal dysmotility syndrome
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- OMIM:614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:1134 Isolated arrhinia
- ORPHA:209908 Isolated childhood apraxia of speech
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:563612 Isolated exencephaly
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:2345 Isolated Klippel-Feil syndrome
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:2440 Isolated split hand-split foot malformation
- OMIM:243440 Isotretinoin embryopathy-like syndrome
- ORPHA:2305 Isotretinoin syndrome
- ORPHA:2306 Isotretinoin-like syndrome
- ORPHA:2307 IVIC syndrome
- OMIM:147750 Ivic syndrome
Disease code
Disease name
- OMIM:617988 Jaberi-Elahi syndrome
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:90647 Jervell and Lange-Nielsen syndrome
- OMIM:220400 Jervell and Lange-Nielsen syndrome 1
- OMIM:612347 Jervell and Lange-Nielsen syndrome 2
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:147770 Johnson neuroectodermal syndrome
- ORPHA:2316 Johnson neuroectodermal syndrome
- OMIM:617662 Joint laxity, short stature, and myopia
- ORPHA:475 Joubert syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:300804 Joubert syndrome 10
- OMIM:614424 Joubert syndrome 14
- OMIM:608091 Joubert syndrome 2
- OMIM:615636 Joubert syndrome 21
- OMIM:616490 Joubert syndrome 23
- OMIM:608629 Joubert syndrome 3
- OMIM:618161 Joubert syndrome 35
- OMIM:618763 Joubert syndrome 36
- OMIM:619185 Joubert syndrome 37
- OMIM:619476 Joubert syndrome 38
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- ORPHA:2929 Juvenile polyposis syndrome
- ORPHA:93399 Juvenile sialidosis type 2
- ORPHA:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Disease code
Disease name
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- ORPHA:254519 Kagami-Ogata syndrome
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:478 Kallmann syndrome
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- OMIM:609242 Kanzaki disease
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:530000 Kearns-Sayre syndrome
- ORPHA:480 Kearns-Sayre syndrome
- OMIM:301026 Keipert syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- ORPHA:494 Keratoderma hereditarium mutilans
- ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis
- OMIM:148350 Keratoderma, palmoplantar, with deafness
- OMIM:620009 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- ORPHA:477 KID syndrome
- OMIM:619080 Kilquist syndrome
- OMIM:619542 King-Denborough syndrome
- OMIM:619297 KINSSHIP syndrome
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- OMIM:118100 Klippel-Feil syndrome 1, autosomal dominant
- OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- OMIM:214300 Klippel-Feil syndrome, autosomal recessive
- OMIM:156550 Kniest dysplasia
- ORPHA:485 Kniest dysplasia
- OMIM:245190 Kniest-Like dysplasia, lethal
- ORPHA:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:96169 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- OMIM:245200 Krabbe disease
- OMIM:619762 Kury-Isidor syndrome
- OMIM:211350 Kyphomelic dysplasia
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Disease code
Disease name
- OMIM:236792 L-2-hydroxyglutaric aciduria
- OMIM:149730 Lacrimoauriculodentodigital syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- OMIM:616803 Lamb-Shaffer syndrome
- OMIM:245552 Lambotte syndrome
- ORPHA:313 Lamellar ichthyosis
- OMIM:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome
- OMIM:608545 Larsen-Like syndrome
- ORPHA:99824 Lassa fever
- ORPHA:199299 Late-onset isolated ACTH deficiency
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:65 Leber congenital amaurosis
- OMIM:617879 Leber congenital amaurosis with early-onset deafness
- OMIM:204000 Leber congenital amaurosis, type I
- ORPHA:137605 Legius syndrome
- OMIM:611431 Legius syndrome
- OMIM:256000 Leigh syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- OMIM:151100 Leopard syndrome 1
- OMIM:611554 Leopard syndrome 2
- OMIM:613707 Leopard syndrome 3
- ORPHA:508 Leprechaunism
- OMIM:619149 Lessel-Kreienkamp syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:616420 Leukodystrophy, hypomyelinating, 10
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- OMIM:617899 Leukodystrophy, hypomyelinating, 14
- OMIM:617951 Leukodystrophy, hypomyelinating, 15
- OMIM:619688 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
- OMIM:617762 Leukodystrophy, progressive, early childhood-onset
- ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts
- ORPHA:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- OMIM:612951 Leukoencephalopathy, cystic, without megalencephaly
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- OMIM:619189 Li-Campeau syndrome
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- OMIM:618889 Liberfarb syndrome
- ORPHA:69085 Limb-mammary syndrome
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
- ORPHA:50811 Lipodystrophy-intellectual disability-deafness syndrome
- OMIM:615191 Lissencephaly 5
- OMIM:616212 Lissencephaly 6, with microcephaly
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- OMIM:300215 Lissencephaly, X-linked, 2
- ORPHA:533 Listeriosis
- OMIM:619991 Liver disease, severe congenital
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:2406 Locked-in syndrome
- OMIM:615582 Loeys-Dietz syndrome 5
- OMIM:192500 Long QT syndrome 1
- ORPHA:2408 Lowe-Kohn-Cohen syndrome
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:2409 Lowry-MacLean syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
- ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- OMIM:616831 Luscan-Lumish syndrome
- OMIM:616843 Lymphedema, hereditary, III
Disease code
Disease name
- OMIM:247990 Macdermot-Winter syndrome
- OMIM:606369 Macrocephaly and epileptic encephalopathy
- OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- OMIM:155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:137867 Madras motor neuron disease
- OMIM:619290 Mahvash disease
- ORPHA:210272 Mal de débarquement
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:397941 MAN1B1-CDG
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- OMIM:616367 Mandibulofacial dysostosis with alopecia
- OMIM:602562 Mandibulofacial dysostosis with macroblepharon and macrostomia
- OMIM:608257 Mandibulofacial dysostosis with ptosis, autosomal dominant
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- OMIM:248510 Mannosidosis, beta
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:91412 Marcus-Gunn syndrome
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
- ORPHA:560 Marshall syndrome
- OMIM:154780 Marshall syndrome
- OMIM:602535 Marshall-Smith syndrome
- ORPHA:561 Marshall-Smith syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- ORPHA:66661 Mast cell sarcoma
- ORPHA:2209 Maternal phenylketonuria
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:225 Maternally-inherited diabetes and deafness
- ORPHA:2470 Matthew-Wood syndrome
- OMIM:155000 Maxillofacial dysostosis
- OMIM:155050 Maxillonasal dysplasia, Binder type
- ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- ORPHA:2471 McDonough syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:616258 Meckel syndrome 12
- OMIM:619879 Meckel syndrome 14
- OMIM:614175 Meckel syndrome, type 10
- OMIM:613885 Meckel syndrome, type 8
- ORPHA:616 Medulloblastoma
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- ORPHA:85282 MEHMO syndrome
- OMIM:300148 Mehmo syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:613804 Meier-Gorlin syndrome 4
- OMIM:613805 Meier-Gorlin syndrome 5
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- ORPHA:550 MELAS
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- OMIM:155980 Membranous cranial ossification, delayed
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- OMIM:156000 Meniere disease
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:309555 Mental retardation with optic atrophy, deafness, and seizures
- OMIM:609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:614113 Mental retardation, autosomal dominant 2
- OMIM:616078 Mental retardation, autosomal dominant 29
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617752 Mental retardation, autosomal dominant 49
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:615162 Mental retardation, autosomal recessive 35
- OMIM:615541 Mental retardation, autosomal recessive 39
- OMIM:616269 Mental retardation, autosomal recessive 48
- OMIM:616460 Mental retardation, autosomal recessive 50
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- OMIM:300928 Mental retardation, X-linked 101
- OMIM:300983 Mental retardation, X-linked 104
- OMIM:300997 Mental retardation, X-linked 106
- OMIM:301013 Mental retardation, X-linked 107
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300143 Mental retardation, X-linked 21
- OMIM:300558 Mental retardation, X-linked 30
- OMIM:300498 Mental retardation, X-linked 45
- OMIM:300436 Mental retardation, X-linked 46
- OMIM:309549 Mental retardation, X-linked 9
- OMIM:300659 Mental retardation, X-linked 93
- OMIM:300803 Mental retardation, X-linked 97
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300243 Mental retardation, x-linked syndromic, Christianson type
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:300799 Mental retardation, x-linked syndromic, Raymond type
- OMIM:309590 Mental retardation, x-linked syndromic, Turner type
- OMIM:300238 Mental retardation, X-linked, syndromic 11
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300886 Mental retardation, X-linked, syndromic 32
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300354 Mental retardation, X-linked, syndromic, Cabezas type
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- OMIM:300419 Mental retardation, X-linked, with or without seizures, arx-related
- ORPHA:551 MERRF
- ORPHA:2496 Mesomelia-synostoses syndrome
- ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- ORPHA:512 Metachromatic leukodystrophy
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- ORPHA:309263 Metachromatic leukodystrophy, juvenile form
- ORPHA:309256 Metachromatic leukodystrophy, late infantile form
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- OMIM:250420 Metaphyseal dysostosis, mental retardation, and conductive deafness
- ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- ORPHA:2635 Metatropic dysplasia
- ORPHA:2169 Methylcobalamin deficiency type cblE
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- ORPHA:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:79329 MGAT2-CDG
- ORPHA:2510 Micro syndrome
- ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- ORPHA:319675 Microcephalic primordial dwarfism, Dauber type
- ORPHA:2617 Microcephalic primordial dwarfism, Montreal type
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:617090 Microcephaly 17, primary, autosomal recessive
- OMIM:604804 Microcephaly 3, primary, autosomal recessive
- OMIM:608716 Microcephaly 5, primary, autosomal recessive
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
- OMIM:156580 Microcephaly, autosomal dominant
- OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:618346 Microcephaly, growth deficiency, seizures, and brain malformations
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:608393 Microcephaly, primary autosomal recessive, 6
- OMIM:615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2515 Microcephaly-cardiomyopathy syndrome
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome
- ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- OMIM:251230 Microcephaly-Micromelia syndrome
- OMIM:615458 Microcornea, myopic chorioretinal atrophy, and telecanthus
- OMIM:605013 MICROHYDRANENCEPHALY
- ORPHA:139471 Microphthalmia with brain and digit anomalies
- OMIM:607597 Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
- OMIM:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:615145 Microphthalmia, isolated, with coloboma 9
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:300915 Microphthalmia, syndromic 13
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- ORPHA:83463 Microtia
- OMIM:611863 Microtia - eye coloboma - imperforation of the nasolacrimal duct
- OMIM:251800 Microtia with meatal atresia and conductive deafness
- OMIM:612290 Microtia, hearing impairment, and cleft palate
- OMIM:600674 MICROTIA-ANOTIA
- ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- ORPHA:289522 Microtriplication 11q24.1
- ORPHA:100084 Middle ear neuroendocrine tumor
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:602481 Migraine, familial hemiplegic, 2
- ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618237 Mitochondrial complex I deficiency, nuclear type 15
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618249 Mitochondrial complex I deficiency, nuclear type 28
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619355 Mitochondrial complex IV deficiency, nuclear type 22
- OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:618972 Mitochondrial DNA depletion syndrome 19
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic type)
- OMIM:613662 Mitochondrial DNA depletion syndrome 4B (mngie type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- OMIM:271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
- ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- OMIM:251950 Mitochondrial myopathy with lactic acidosis
- OMIM:540000 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:79330 MOGS-CDG
- OMIM:252100 Mohr syndrome
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:304700 Mohr-Tranebjaerg syndrome
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:261112 Monosomy 9p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:1724 Mosaic trisomy 20
- ORPHA:96061 Mosaic trisomy 8
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- OMIM:614114 Mosaic variegated aneuploidy syndrome 2
- OMIM:617598 Mosaic variegated aneuploidy syndrome 3
- ORPHA:2152 Mowat-Wilson syndrome
- OMIM:235730 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- ORPHA:2574 Moynahan syndrome
- ORPHA:79323 MPDU1-CDG
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:601492 Mucopolysaccharidosis type IX
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- ORPHA:53271 Muenke syndrome
- OMIM:602849 Muenke syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- OMIM:601076 Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies
- OMIM:236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- OMIM:231680 Multiple acyl-CoA-dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:148 Multiple carboxylase deficiency
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- ORPHA:93307 Multiple epiphyseal dysplasia type 4
- ORPHA:166011 Multiple epiphyseal dysplasia, Beighton type
- OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
- OMIM:617954 Multiple mitochondrial dysfunctions syndrome 6
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:3237 Multiple synostoses syndrome
- OMIM:186500 Multiple synostoses syndrome 1
- OMIM:617898 Multiple synostoses syndrome 4
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- ORPHA:589 Myasthenia gravis
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:616040 Myasthenic syndrome, congenital, 7, presynaptic
- ORPHA:268249 Mycophenolate mofetil embryopathy
- ORPHA:182050 MYH9-related disease
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:247768 Müllerian aplasia and hyperandrogenism
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:545000 Myoclonic epilepsy associated with ragged-red fibers
- OMIM:159800 Myoclonus, cerebellar ataxia, and deafness
- ORPHA:2589 Myoclonus-cerebellar ataxia-deafness syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:301075 Myopathy, distal, 7, adult-onset, X-linked
- OMIM:613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- ORPHA:251643 Myxopapillary ependymoma
Disease code
Disease name
- ORPHA:2608 N syndrome
- OMIM:310465 N syndrome
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:608156 Nablus mask-like facial syndrome
- ORPHA:245 Nager syndrome
- OMIM:161200 Nail-Patella syndrome
- OMIM:302350 Nance-Horan syndrome
- ORPHA:627 Nance-Horan syndrome
- ORPHA:644 NARP syndrome
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:167730 Nasopalpebral lipoma-coloboma syndrome
- OMIM:255990 Nathalie syndrome
- ORPHA:2663 Nathalie syndrome
- ORPHA:168572 Native American myopathy
- ORPHA:34217 Naxos disease
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:294023 Neonatal inflammatory skin and bowel disease
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- OMIM:613159 Nephronophthisis-Like nephropathy 1
- OMIM:609057 Nephropathy with pretibial epidermolysis bullosa and deafness
- ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome
- OMIM:256200 Nephrosis with deafness and urinary tract and digital malformations
- ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:615244 Nephrotic syndrome, type 8
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- OMIM:256550 Neuraminidase deficiency
- OMIM:619869 Neurocardiofaciodigital syndrome
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:617145 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- OMIM:256600 Neurodegeneration with brain iron accumulation 2A
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- OMIM:618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- OMIM:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
- OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- OMIM:620075 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:616281 Neurodevelopmental disorder with microcephaly and spastic paraplegia
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
- OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:619880 Neurodevelopmental disorder with poor growth and skeletal anomalies
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
- OMIM:617804 Neurodevelopmental disorder with severe motor impairment and absent language
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
- OMIM:620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
- OMIM:619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- OMIM:620114 Neurodevelopmental disorder with speech impairment and with or without seizures
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities
- OMIM:301022 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities
- ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome
- OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- OMIM:603641 Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:252183 Neurofibroma
- OMIM:101000 Neurofibromatosis, type II
- OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- OMIM:619539 Neuroocular syndrome
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:214370 Neuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:162400 Neuropathy, hereditary sensory and autonomic, type IA
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:616488 Neuropathy, hereditary sensory and autonomic, type VIII
- OMIM:614116 Neuropathy, hereditary sensory, type IE
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:610717 Neutral lipid storage disease with myopathy
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:610738 Neutropenia, severe congenital 3, autosomal recessive
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:616022 Neutropenia, severe congenital, 6, autosomal recessive
- ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:646 Niemann-Pick disease type C
- ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- ORPHA:99825 Nipah virus disease
- ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:557 Non-syndromic anorectal malformation
- ORPHA:35099 Non-syndromic bicoronal craniosynostosis
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- ORPHA:87884 Non-syndromic genetic deafness
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:618499 Noonan syndrome 11
- OMIM:619087 Noonan syndrome 13
- OMIM:619745 Noonan syndrome 14
- OMIM:605275 Noonan syndrome 2
- OMIM:609942 Noonan syndrome 3
- OMIM:610733 Noonan syndrome 4
- OMIM:611553 Noonan syndrome 5
- OMIM:613224 Noonan syndrome 6
- OMIM:613706 Noonan syndrome 7
- OMIM:615355 Noonan syndrome 8
- ORPHA:500 Noonan syndrome with multiple lentigines
- ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- OMIM:310600 Norrie disease
- ORPHA:649 Norrie disease
- OMIM:193003 Nystagmus 4, congenital, autosomal dominant
- OMIM:164150 Nystagmus, hereditary vertical
Disease code
Disease name
- ORPHA:1000 Ocular albinism with late-onset sensorineural deafness
- ORPHA:2714 Oculo-palato-cerebral syndrome
- OMIM:612109 Oculoauricular syndrome
- ORPHA:398156 Oculoauriculofrontonasal syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:257850 Oculodentodigital dysplasia, autosomal recessive
- ORPHA:2712 Oculofaciocardiodental syndrome
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619473 Oculopharyngodistal myopathy 3
- OMIM:618440 Oculoskeletodental syndrome
- ORPHA:557003 Oculoskeletodental syndrome
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- OMIM:249620 Ohdo syndrome
- OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- OMIM:300895 Ohdo syndrome, X-linked
- ORPHA:2729 Okamoto syndrome
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:2260 Oligomeganephronia
- ORPHA:2920 Oliver syndrome
- ORPHA:2732 Olivopontocerebellar atrophy-deafness syndrome
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- OMIM:258480 Opsismodysplasia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- OMIM:617302 Optic atrophy 11
- OMIM:165300 Optic atrophy 3, autosomal dominant
- OMIM:612989 Optic atrophy 7 with or without auditory neuropathy
- OMIM:616648 Optic atrophy 8
- OMIM:125250 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- OMIM:165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant
- OMIM:258650 Optic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive
- ORPHA:401777 Optic atrophy-intellectual disability syndrome
- ORPHA:2086 Optic pathway glioma
- OMIM:258700 Opticocochleodentate degeneration
- OMIM:616788 Orofacial cleft 15
- OMIM:311200 Orofaciodigital syndrome I
- OMIM:258850 Orofaciodigital syndrome III
- OMIM:258860 Orofaciodigital syndrome IV
- ORPHA:2750 Orofaciodigital syndrome type 1
- ORPHA:434179 Orofaciodigital syndrome type 14
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2752 Orofaciodigital syndrome type 3
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:277170 Orofaciodigital syndrome VI
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:620107 Orofaciodigital syndrome XIX
- OMIM:617563 Orofaciodigital syndrome XVI
- OMIM:617926 Orofaciodigital syndrome XVII
- OMIM:165680 Ossicular malformations, familial
- OMIM:165670 Ossified ear cartilages
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- ORPHA:666 Osteogenesis imperfecta
- OMIM:166200 Osteogenesis imperfecta, type I
- OMIM:259420 Osteogenesis imperfecta, type III
- OMIM:166220 Osteogenesis imperfecta, type IV
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:613849 Osteogenesis imperfecta, type XII
- OMIM:614856 Osteogenesis imperfecta, type XIII
- OMIM:615066 Osteogenesis imperfecta, type XIV
- OMIM:616229 Osteogenesis imperfecta, type XVI
- OMIM:616507 Osteogenesis imperfecta, type XVII
- OMIM:618644 Osteogenesis imperfecta, type XX
- OMIM:619795 Osteogenesis imperfecta, type XXII
- OMIM:166250 Osteoglophonic dysplasia
- ORPHA:2645 Osteoglosphonic dysplasia
- OMIM:259650 Osteoma of middle ear
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2780 Osteopathia striata-cranial sclerosis syndrome
- ORPHA:2324 Osteopenia-intellectual disability-sparse hair syndrome
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:607634 Osteopetrosis, autosomal dominant 1
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- ORPHA:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome
- OMIM:166760 Otitis media, susceptibility to
- OMIM:166750 Otodental dysplasia
- ORPHA:2791 Otodental syndrome
- ORPHA:2792 Otofaciocervical syndrome
- OMIM:166780 Otofaciocervical syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- OMIM:601976 Otofacioosseous-Gonadal syndrome
- ORPHA:2793 Otoonychoperoneal syndrome
- OMIM:259780 Otoonychoperoneal syndrome
- ORPHA:90650 Otopalatodigital syndrome type 1
- ORPHA:90652 Otopalatodigital syndrome type 2
- OMIM:311300 Otopalatodigital syndrome, type I
- OMIM:304120 Otopalatodigital syndrome, type II
- OMIM:166800 OTOSCLEROSIS
- OMIM:615589 Otosclerosis 10
- OMIM:608244 Otosclerosis 3
- OMIM:611571 Otosclerosis 4
- OMIM:611572 Otosclerosis 7
- OMIM:612096 Otosclerosis 8
- ORPHA:1427 Otospondylomegaepiphyseal dysplasia
- OMIM:215150 Otospondylomegaepiphyseal dysplasia
- ORPHA:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome
Disease code
Disease name
- OMIM:618737 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
- ORPHA:2309 Pachyonychia congenita
- OMIM:301025 Paganini-Miozzo syndrome
- OMIM:602080 Paget disease of bone 2, early-onset
- OMIM:167250 Paget disease of bone 3
- OMIM:606263 Paget disease of bone 4
- OMIM:239000 Paget disease of bone 5, juvenile-onset
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- ORPHA:2202 Palmoplantar keratoderma-deafness syndrome
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:95513 Panhypophysitis
- ORPHA:251915 Papillary tumor of the pineal region
- OMIM:120330 Papillorenal syndrome
- OMIM:168000 Paragangliomas 1
- OMIM:601650 Paragangliomas 2
- OMIM:605373 Paragangliomas 3
- OMIM:115310 Paragangliomas 4
- OMIM:619873 Parenti-Mignot neurodevelopmental syndrome
- OMIM:168550 Parietal foramina with cleidocranial dysplasia
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- ORPHA:262767 Partial trisomy/tetrasomy of the short arm of chromosome 9
- ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:261524 Paternal uniparental disomy of chromosome X
- ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:439822 PDE4D haploinsufficiency syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:2836 PEHO syndrome
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:2839 Pelvis-shoulder dysplasia
- ORPHA:93333 Pelviscapular dysplasia
- ORPHA:705 Pendred syndrome
- OMIM:274600 Pendred syndrome
- ORPHA:49 Penile agenesis
- ORPHA:11 Pentasomy X
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- OMIM:614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- OMIM:617201 Periventricular nodular heterotopia 7
- OMIM:618918 Periventricular nodular heterotopia 9
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:616154 Peroxisomal fatty acyl-CoA reductase 1 disorder
- OMIM:617370 Peroxisome biogenesis disorder 10B
- OMIM:614885 Peroxisome biogenesis disorder 11B
- OMIM:614920 Peroxisome biogenesis disorder 14B
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:601539 Peroxisome biogenesis disorder 1B
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:202370 Peroxisome biogenesis disorder 2B
- OMIM:614859 Peroxisome biogenesis disorder 3A (Zellweger)
- OMIM:266510 Peroxisome biogenesis disorder 3B
- OMIM:614863 Peroxisome biogenesis disorder 4B
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:614867 Peroxisome biogenesis disorder 5B
- OMIM:614870 Peroxisome biogenesis disorder 6A (Zellweger)
- OMIM:614871 Peroxisome biogenesis disorder 6B
- OMIM:614872 Peroxisome biogenesis disorder 7A (zellweger)
- OMIM:614873 Peroxisome biogenesis disorder 7B
- OMIM:614879 Peroxisome biogenesis disorder 9B
- OMIM:233400 Perrault syndrome 1
- OMIM:614926 Perrault syndrome 2
- OMIM:614129 Perrault syndrome 3
- OMIM:615300 Perrault syndrome 4
- OMIM:617565 Perrault syndrome 6
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- OMIM:304340 Pettigrew syndrome
- ORPHA:93258 Pfeiffer syndrome type 1
- ORPHA:93259 Pfeiffer syndrome type 2
- ORPHA:93260 Pfeiffer syndrome type 3
- ORPHA:2871 Pfeiffer-Palm-Teller syndrome
- ORPHA:443811 PGM3-CDG
- ORPHA:2876 PHAVER syndrome
- OMIM:606232 Phelan-Mcdermid syndrome
- ORPHA:1919 Phenobarbital embryopathy
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:171480 Phocomelia-Ectrodactyly, ear malformation, deafness, and sinus arrhythmia
- ORPHA:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- ORPHA:3222 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebraldysfunction
- OMIM:172800 Piebald trait
- OMIM:172850 Piebald trait with neurologic defects
- ORPHA:2885 Piebald trait-neurologic defects syndrome
- ORPHA:2884 Piebaldism
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont syndrome
- ORPHA:2889 Pili torti
- ORPHA:2890 Pili torti-onychodysplasia syndrome
- ORPHA:251912 Pineocytoma
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- ORPHA:300385 Pituitary carcinoma
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:707 Plague
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- ORPHA:79318 PMM2-CDG
- ORPHA:477817 PMP22-RAI1 contiguous gene duplication syndrome
- OMIM:604173 Poikiloderma with neutropenia
- ORPHA:2911 Poland syndrome
- ORPHA:729 Polycythemia vera
- ORPHA:453533 Polyendocrine-polyneuropathy syndrome
- OMIM:616113 Polyendocrine-Polyneuropathy syndrome
- OMIM:612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- ORPHA:228410 Polyvalvular heart disease syndrome
- OMIM:614688 Pontine tegmental cap dysplasia
- ORPHA:284339 Pontocerebellar hypoplasia type 7
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- OMIM:616081 Pontocerebellar hypoplasia, type 1C
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:615851 Pontocerebellar hypoplasia, type 2E
- OMIM:608027 Pontocerebellar hypoplasia, type 3
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- OMIM:614961 Pontocerebellar hypoplasia, type 8
- OMIM:615809 Pontocerebellar hypoplasia, type 9
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- OMIM:619339 Popliteal pterygium syndrome, Bartsocas-Papas type 2
- OMIM:618428 Popov-Chang syndrome
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- OMIM:263750 Postaxial acrofacial dysostosis
- ORPHA:246 Postaxial acrofacial dysostosis
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- OMIM:610883 Potocki-Lupski syndrome
- OMIM:601811 Premature aging syndrome, Okamoto type
- OMIM:601812 Premature aging syndrome, Penttinen type
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:309610 Prieto syndrome
- ORPHA:140989 Primary angiitis of the central nervous system
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:90042 Primary familial polycythemia
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:2257 Primary pulmonary hypoplasia
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- ORPHA:231580 Primary unilateral adrenal hyperplasia
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- OMIM:259050 Primrose syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:602249 Progeroid facial appearance with hand anomalies
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:2963 Progeroid syndrome, Petty type
- ORPHA:3235 Progressive deafness with stapes fixation
- ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- OMIM:157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- OMIM:609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- OMIM:617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- OMIM:618098 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:2965 Prolactinoma
- ORPHA:742 Prolidase deficiency
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- ORPHA:744 Proteus syndrome
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:370079 Proximal 16p11.2 microduplication syndrome
- ORPHA:401768 Proximal myopathy with extrapyramidal signs
- ORPHA:3250 Proximal symphalangism
- OMIM:264140 Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness
- ORPHA:544469 PRUNE1-related neurological syndrome
- ORPHA:221120 Pseudoaminopterin syndrome
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:177980 Pterygia, mental retardation, and distinctive craniofacial features
- OMIM:177990 Pterygium colli, isolated
- ORPHA:2988 Pterygium colli-intellectual disability-digital anomalies syndrome
- ORPHA:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- OMIM:178651 Pulmonic stenosis and deafness
- ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- ORPHA:763 Pycnodysostosis
- ORPHA:481152 PYCR2-related microcephaly-progressive leukoencephalopathy
- ORPHA:3003 Pyknoachondrogenesis
Disease code
Disease name
Disease code
Disease name
- ORPHA:769 Rabson-Mendenhall syndrome
- OMIM:179280 Radial-Renal syndrome
- OMIM:619312 Radio-Tartaglia syndrome
- ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- OMIM:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- ORPHA:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome
- OMIM:614202 Rafiq syndrome
- OMIM:259775 Raine syndrome
- OMIM:266270 Ramon syndrome
- ORPHA:3019 Ramon syndrome
- ORPHA:1051 Ramos-Arroyo syndrome
- OMIM:266280 Rapadilino syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- OMIM:129400 Rapp-Hodgkin syndrome
- ORPHA:535 Rare cutaneous lupus erythematosus
- OMIM:619695 Rauch-Steindl syndrome
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- ORPHA:96167 Recombinant 8 syndrome
- OMIM:179613 Recombinant chromosome 8 syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- OMIM:266500 Refsum disease
- ORPHA:773 Refsum disease
- ORPHA:728 Relapsing polychondritis
- ORPHA:1848 Renal agenesis, bilateral
- ORPHA:2838 Renal caliceal diverticuli-deafness syndrome
- ORPHA:1475 Renal coloboma syndrome
- OMIM:191830 Renal hypodysplasia/aplasia 1
- OMIM:267300 Renal tubular acidosis, distal, with progressive nerve deafness
- OMIM:560000 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
- OMIM:267400 Renal, genital, and middle ear anomalies
- OMIM:309500 Renpenning syndrome
- ORPHA:3242 Renpenning syndrome
- ORPHA:494344 RERE-related neurodevelopmental syndrome
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- ORPHA:33355 Reticular dysgenesis
- OMIM:618863 Retinal dystrophy with leukodystrophy
- OMIM:180080 Retinal venous beading
- ORPHA:791 Retinitis pigmentosa
- OMIM:613861 Retinitis pigmentosa 59
- OMIM:268010 Retinitis pigmentosa inversa with deafness
- OMIM:250410 Retinitis pigmentosa with or without skeletal anomalies
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- ORPHA:52427 Retinitis punctata albescens
- OMIM:613454 Rett syndrome, congenital variant
- ORPHA:244310 RFT1-CDG
- OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:140976 RHYNS syndrome
- OMIM:602152 Rhyns syndrome
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:1399 Richards-Rundle syndrome
- ORPHA:3101 Richieri Costa-da Silva syndrome
- OMIM:268850 Richieri-Costa/guion-Almeida syndrome
- OMIM:277440 Rickets, vitamin D-resistant, type IIA
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- OMIM:616606 Ring chromosome 14 syndrome
- ORPHA:1446 Ring chromosome 22 syndrome
- ORPHA:1448 Ring chromosome 6 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- ORPHA:1450 Ring chromosome 8 syndrome
- OMIM:220210 Ritscher-Schinzel syndrome 1
- OMIM:619435 Ritscher-Schinzel syndrome 4
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- ORPHA:3103 Roberts syndrome
- OMIM:268300 Roberts syndrome
- OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly
- ORPHA:97360 Robinow syndrome
- OMIM:180700 Robinow syndrome, autosomal dominant 1
- OMIM:616331 Robinow syndrome, autosomal dominant 2
- OMIM:616894 Robinow syndrome, autosomal dominant 3
- OMIM:268310 Robinow syndrome, autosomal recessive
- OMIM:618529 Robinow syndrome, autosomal recessive 2
- OMIM:268315 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- OMIM:268320 Rodrigues blindness
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- ORPHA:101016 Romano-Ward syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- OMIM:618625 Rothmund-thomson syndrome, type 1
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- OMIM:613684 Rubinstein-Taybi syndrome 2
- ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations
- ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Disease code
Disease name
- OMIM:101400 Saethre-Chotzen syndrome
- ORPHA:794 Saethre-Chotzen syndrome
- ORPHA:300493 Sagliker syndrome
- OMIM:609056 Salt and pepper developmental regression syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- ORPHA:796 Sandhoff disease
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:3129 Sarcosinemia
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- OMIM:181180 Say syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:269000 Sc phocomelia syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- ORPHA:3134 SCARF syndrome
- OMIM:312830 Scarf syndrome
- OMIM:615547 Schaaf-Yang syndrome
- ORPHA:93474 Scheie syndrome
- OMIM:164220 Schilbach-Rott syndrome
- ORPHA:59298 Schilder disease
- OMIM:312840 Schimke X-linked mental retardation syndrome
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- OMIM:181510 Schizophrenia 1
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- OMIM:162091 Schwannomatosis
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- OMIM:617394 Sclerosing cholangitis, neonatal
- ORPHA:3152 Sclerosteosis
- OMIM:269500 Sclerosteosis 1
- OMIM:614305 Sclerosteosis 2
- ORPHA:808 Seckel syndrome
- OMIM:210600 Seckel syndrome 1
- OMIM:613676 Seckel syndrome 4
- OMIM:613823 Seckel syndrome 5
- OMIM:614851 Seckel syndrome 7
- OMIM:616777 Seckel syndrome 9
- ORPHA:99857 Secondary syringomyelia
- OMIM:612780 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:220386 Semilobar holoprosencephaly
- ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy
- ORPHA:66633 Sensorineural hearing loss-early graying-essential tremor syndrome
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- ORPHA:3157 Septo-optic dysplasia spectrum
- ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency
- OMIM:602450 Severe combined immunodeficiency with sensitivity to ionizing radiation
- OMIM:601457 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- OMIM:608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- ORPHA:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:2715 Severe oculo-renal-cerebellar syndrome
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:1147 Sheldon-Hall syndrome
- OMIM:609654 Short stature and facioauriculothoracic malformations
- OMIM:618363 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
- OMIM:602471 Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities
- OMIM:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617763 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- ORPHA:2863 Short stature-wormian bones-dextrocardia syndrome
- OMIM:269880 Short syndrome
- ORPHA:3163 SHORT syndrome
- ORPHA:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616300 Short-Rib thoracic dysplasia 13 with or without polydactyly
- OMIM:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617102 Short-Rib thoracic dysplasia 16 with or without polydactyly
- OMIM:617895 Short-Rib thoracic dysplasia 19 with or without polydactyly
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:619479 Short-rib thoracic dysplasia 21 without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:617941 Shwachman-Diamond syndrome 2
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- OMIM:618635 Siddiqi syndrome
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- OMIM:617159 Sifrim-Hitz-Weiss syndrome
- ORPHA:813 Silver-Russell syndrome
- OMIM:616489 Silver-Russell syndrome 3
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:231140 Silver-Russell syndrome due to an imprinting defect of 11p15
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- OMIM:619557 SIMHA syndrome
- OMIM:182150 Simosa craniofacial syndrome
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- ORPHA:500166 SIN3A-related intellectual disability syndrome due to a point mutation
- OMIM:614896 Sinoatrial node dysfunction and deafness
- ORPHA:488437 SIX2-related frontonasal dysplasia
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- OMIM:156610 Skin creases, congenital symmetric circumferential, 1
- OMIM:616734 Skin creases, congenital symmetric circumferential, 2
- OMIM:617616 Skraban-Deardorff syndrome
- ORPHA:356961 SLC35A2-CDG
- ORPHA:468699 SLC39A8-CDG
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:820 Sneddon syndrome
- OMIM:618205 Snijders blok-campeau syndrome
- OMIM:618604 Snijders Blok-Fisher syndrome
- ORPHA:97230 Solar urticaria
- ORPHA:314769 Somatomammotropinoma
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- OMIM:611390 Spastic ataxia 3, autosomal recessive
- OMIM:312910 Spastic paraparesis and deafness
- ORPHA:2815 Spastic paraparesis-deafness syndrome
- OMIM:609727 Spastic paraplegia 29, autosomal dominant
- OMIM:613206 Spastic paraplegia 44, autosomal recessive
- OMIM:614409 Spastic paraplegia 46, autosomal recessive
- OMIM:613744 Spastic paraplegia 51, autosomal recessive
- OMIM:270800 Spastic paraplegia 5A, autosomal recessive
- OMIM:607259 Spastic paraplegia 7, autosomal recessive
- OMIM:618768 Spastic paraplegia 81, autosomal recessive
- OMIM:616756 Spastic paraplegia and psychomotor retardation with or without seizures
- OMIM:182690 Spastic paraplegia, sensorineural deafness, mental retardation, and
- ORPHA:2820 Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome
- OMIM:270950 Spastic quadriplegia, retinitis pigmentosa, and mental retardation
- OMIM:618598 Spastic tetraplegia and axial hypotonia, progressive
- ORPHA:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- ORPHA:1519 SPECC1L-related hypertelorism syndrome
- OMIM:617475 Specific granule deficiency 2
- OMIM:182875 Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease
- OMIM:618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:605259 Spinocerebellar ataxia 13
- OMIM:608703 Spinocerebellar ataxia 25
- OMIM:618087 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
- OMIM:617691 Spinocerebellar ataxia 44
- OMIM:617931 Spinocerebellar ataxia 47
- ORPHA:98768 Spinocerebellar ataxia type 13
- ORPHA:98771 Spinocerebellar ataxia type 18
- ORPHA:101110 Spinocerebellar ataxia type 20
- ORPHA:98757 Spinocerebellar ataxia type 3
- ORPHA:458803 Spinocerebellar ataxia type 42
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:271250 Spinocerebellar ataxia, autosomal recessive 3
- OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31
- ORPHA:1185 Spinocerebellar ataxia-dysmorphism syndrome
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- OMIM:183700 Split-Foot deformity with mandibulofacial dysostosis
- OMIM:616890 Split-Foot malformation with mesoaxial polydactyly
- ORPHA:488232 Split-foot malformation-mesoaxial polydactyly syndrome
- OMIM:183600 Split-Hand/foot malformation 1
- OMIM:220600 Split-Hand/foot malformation 1 with sensorineural hearing loss
- OMIM:246560 Split-Hand/foot malformation 3
- OMIM:119100 Split-Hand/foot malformation with long bone deficiency 1
- ORPHA:85194 Spondylo-ocular syndrome
- OMIM:272460 Spondylocarpotarsal synostosis syndrome
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity
- ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type
- OMIM:612813 Spondyloepimetaphyseal dysplasia, Aggrecan type
- OMIM:616723 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
- OMIM:610442 Spondyloepimetaphyseal dysplasia, Genevieve type
- OMIM:300232 Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration
- ORPHA:94068 Spondyloepiphyseal dysplasia congenita
- OMIM:183900 Spondyloepiphyseal dysplasia congenita
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- OMIM:618392 Spondyloepiphyseal dysplasia, Kondo-Fu type
- OMIM:619260 Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
- OMIM:611717 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- OMIM:609616 Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness
- OMIM:608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- OMIM:613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
- ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type
- OMIM:250220 Spondylometaphyseal dysplasia, Sedaghatian type
- OMIM:605822 Spondyloocular syndrome
- OMIM:271700 Spondyloperipheral dysplasia
- ORPHA:1856 Spondyloperipheral dysplasia-short ulna syndrome
- ORPHA:247234 Sporadic adult-onset ataxia of unknown etiology
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- OMIM:618156 Squalene synthase deficiency
- ORPHA:324737 SRD5A3-CDG
- ORPHA:370927 SSR4-CDG
- ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- OMIM:617516 Stankiewicz-Isidor syndrome
- OMIM:184460 Stapes ankylosis with broad thumb and toes
- OMIM:612948 Stargardt macular degeneration, absent or hypoplastic corpus callosum,mental retardation, and dysmorphic features
- OMIM:615155 Steel syndrome
- OMIM:184705 Steinfeld syndrome
- OMIM:611961 Stevenson-Carey syndrome
- OMIM:609508 Stickler sydrome, type I, nonsyndromic ocular
- ORPHA:828 Stickler syndrome
- ORPHA:90653 Stickler syndrome type 1
- ORPHA:90654 Stickler syndrome type 2
- OMIM:108300 Stickler syndrome, type I
- OMIM:604841 Stickler syndrome, type II
- OMIM:184840 Stickler syndrome, type III
- OMIM:614134 Stickler syndrome, type IV
- OMIM:614284 Stickler syndrome, type V
- OMIM:620022 Stickler syndrome, type VI
- ORPHA:2833 Stiff skin syndrome
- OMIM:243605 Stromme syndrome
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- ORPHA:3205 Sturge-Weber syndrome
- OMIM:601559 Stuve-Wiedemann syndrome
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- OMIM:618950 Suleiman-El-Hattab syndrome
- OMIM:272300 SULFOCYSTEINURIA
- ORPHA:57145 SUNCT syndrome
- ORPHA:247245 Superficial siderosis
- ORPHA:838 Susac syndrome
- OMIM:617746 Sweeney-Cox syndrome
- OMIM:185750 Symphalangism with multiple anomalies of hands and feet
- ORPHA:3246 Symphalangism with multiple anomalies of hands and feet
- OMIM:185800 Symphalangism, proximal, 1A
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- OMIM:609289 Syncope, familial vasovagal
- OMIM:186350 Syndactyly-Polydactyly-Earlobe syndrome
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy
Disease code
Disease name
- ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- OMIM:311900 Tarp syndrome
- ORPHA:2886 TARP syndrome
- OMIM:186570 Tarsal-Carpal coalition syndrome
- ORPHA:845 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:619736 Teebi hypertelorism syndrome 2
- OMIM:272950 Teebi-Shaltout syndrome
- OMIM:273050 Teeth, noneruption of, with maxillary hypoplasia and genu valgum
- ORPHA:488642 TELO2-related intellectual disability-neurodevelopmental disorder
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- ORPHA:254525 Temple syndrome due to paternal 14q32.2 microdeletion
- ORPHA:420561 Temple-Baraitser syndrome
- OMIM:605282 Temtamy preaxial brachydactyly syndrome
- ORPHA:363417 Temtamy preaxial brachydactyly syndrome
- OMIM:218340 Temtamy syndrome
- ORPHA:1777 Temtamy syndrome
- ORPHA:66627 Tenosynovial giant cell tumor
- OMIM:300244 Terminal osseous dysplasia
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- OMIM:618021 Tetraamelia syndrome 2
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- ORPHA:3305 Tetraploidy
- ORPHA:3307 Tetrasomy 18p
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- OMIM:608028 Thai symphalangism syndrome
- ORPHA:1780 Thakker-Donnai syndrome
- ORPHA:3312 Thalidomide embryopathy
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- ORPHA:1506 Thin ribs-tubular bones-dysmorphism syndrome
- ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome
- OMIM:274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness
- ORPHA:83471 Thymic aplasia
- ORPHA:3327 Thyrocerebrorenal syndrome
- OMIM:274240 Thyrocerebroretinal syndrome
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- ORPHA:3329 Tibial aplasia-ectrodactyly syndrome
- ORPHA:93322 Tibial hemimelia
- ORPHA:297 Tick-borne encephalitis
- OMIM:103500 Tietz albinism-deafness syndrome
- ORPHA:42665 Tietz syndrome
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300707 Toe syndactyly, telecanthus, and anogenital and renal malformations
- OMIM:618971 Tolchin-Le Caignec syndrome
- ORPHA:1920 Toluene embryopathy
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- ORPHA:857 Townes-Brocks syndrome
- OMIM:107480 Townes-Brocks syndrome 1
- OMIM:617466 Townes-Brocks syndrome 2
- OMIM:606003 Transaldolase deficiency
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- OMIM:154500 Treacher Collins syndrome 1
- OMIM:613717 Treacher collins syndrome 2
- OMIM:248390 Treacher collins syndrome 3
- ORPHA:861 Treacher-Collins syndrome
- OMIM:618939 Treacher-Collins syndrome 4
- ORPHA:863 Trichinellosis
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- ORPHA:77258 Trichorhinophalangeal syndrome type 1 and 3
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- OMIM:190351 Trichorhinophalangeal syndrome, type III
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:234050 Trichothiodystrophy 4, nonphotosensitive
- OMIM:616943 Trichothiodystrophy 6, nonphotosensitive
- OMIM:619691 Trichothiodystrophy 8, nonphotosensitive
- OMIM:314320 Trigonocephaly with short stature and developmental delay
- ORPHA:3369 Trigonocephaly-short stature-developmental delay syndrome
- ORPHA:869 Triple A syndrome
- ORPHA:3376 Triploidy
- ORPHA:171929 Trisomy 10p
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- ORPHA:261290 Trisomy 17p
- ORPHA:3380 Trisomy 18
- OMIM:601161 Trisomy 18-like syndrome
- ORPHA:1715 Trisomy 18p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:1742 Trisomy 5p
- ORPHA:264450 Trisomy 8p
- ORPHA:1752 Trisomy 8q
- ORPHA:236 Trisomy 9p
- ORPHA:91347 TSH-secreting pituitary adenoma
- OMIM:613254 Tuberous sclerosis-2
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:191200 Tune deafness
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- OMIM:615102 Tyshchenko syndrome
Disease code
Disease name
- ORPHA:3404 Ulbright-Hodes syndrome
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency
- ORPHA:268943 Unilateral polymicrogyria
- ORPHA:2489 Upper limb defect-eye and ear abnormalities syndrome
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- OMIM:300280 Uruguay faciocardiomusculoskeletal syndrome
- ORPHA:886 Usher syndrome
- ORPHA:231169 Usher syndrome type 1
- ORPHA:231178 Usher syndrome type 2
- ORPHA:231183 Usher syndrome type 3
- OMIM:618632 Usher syndrome, type 1M
- OMIM:276900 Usher syndrome, type I
- OMIM:276904 Usher syndrome, type IC
- OMIM:601067 Usher syndrome, type ID
- OMIM:602097 Usher syndrome, type IE
- OMIM:602083 Usher syndrome, type IF
- OMIM:606943 Usher syndrome, type IG
- OMIM:276901 Usher syndrome, type IIA
- OMIM:605472 Usher syndrome, type IIC
- OMIM:611383 Usher syndrome, type IID
- OMIM:276902 Usher syndrome, type IIIA
- OMIM:614504 Usher syndrome, type IIIB
- OMIM:614869 Usher syndrome, type IJ
- OMIM:614990 Usher syndrome, type IK
- OMIM:618144 Usher syndrome, type IV
- OMIM:619548 Usmani-Riazuddin syndrome, autosomal recessive
- ORPHA:1473 Uveal coloboma-cleft lip and palate-intellectual disability
Disease code
Disease name
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:277150 Van bogaert-hozay syndrome
- OMIM:600920 Van den Ende-Gupta syndrome
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:601390 Van Maldergem syndrome 1
- OMIM:615546 Van maldergem syndrome 2
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600736 Velofacioskeletal syndrome
- OMIM:614916 Ventricular tachycardia, catecholaminergic polymorphic, 4
- ORPHA:3429 Verloove Vanhorick-Brubakk syndrome
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:619122 Vertebral hypersegmentation and orofacial anomalies
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2
- OMIM:619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects
- OMIM:617982 Ververi-Brady syndrome
- OMIM:193005 Vestibulocochlear dysfunction, progressive
- OMIM:193007 Vestibulopathy, familial
- OMIM:301054 VEXAS syndrome, somatic
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- OMIM:619465 Visceral neuropathy, familial, 2, autosomal recessive
- OMIM:243180 Visceral neuropathy, familial, autosomal recessive
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:619472 VISS syndrome
- ORPHA:1914 Vitamin K antagonist embryofetopathy
- ORPHA:3437 Vogt-Koyanagi-Harada disease
- OMIM:124500 Vohwinkel syndrome
- OMIM:604117 Vohwinkel syndrome, variant form
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
Disease code
Disease name
- ORPHA:3440 Waardenburg syndrome
- ORPHA:894 Waardenburg syndrome type 1
- ORPHA:895 Waardenburg syndrome type 2
- ORPHA:896 Waardenburg syndrome type 3
- OMIM:193500 Waardenburg syndrome, type 1
- OMIM:193510 Waardenburg syndrome, type 2A
- OMIM:608890 Waardenburg syndrome, type 2D
- OMIM:611584 Waardenburg syndrome, type 2E
- OMIM:619947 Waardenburg syndrome, type 2F
- OMIM:148820 Waardenburg syndrome, type 3
- OMIM:613265 Waardenburg syndrome, type 4B
- OMIM:613266 Waardenburg syndrome, type 4C
- OMIM:600193 Waardenburg syndrome, type IIB
- ORPHA:897 Waardenburg-Shah syndrome
- OMIM:277580 Waardenburg-Shah syndrome
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:893 WAGR syndrome
- OMIM:612469 WAGRO syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:899 Walker-Warburg syndrome
- OMIM:600118 Warburg micro syndrome 1
- OMIM:614225 Warburg micro syndrome 2
- OMIM:614222 Warburg micro syndrome 3
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:572798 WARS2-related combined oxidative phosphorylation defect
- OMIM:613398 Warsaw breakage syndrome
- OMIM:193520 Watson syndrome
- ORPHA:3447 Weaver syndrome
- OMIM:277590 Weaver syndrome
- ORPHA:3448 Weaver-Williams syndrome
- OMIM:608328 Weill-Marchesani syndrome 2, dominant
- OMIM:618619 Weiss-Kruszka syndrome
- OMIM:193530 Weyers acrofacial dysostosis
- ORPHA:51636 WHIM syndrome
- ORPHA:2475 White forelock with malformations
- OMIM:619426 White-Kernohan syndrome
- OMIM:616364 White-Sutton syndrome
- ORPHA:468678 White-Sutton syndrome
- OMIM:314580 Wieacker-Wolff syndrome
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:319182 Wiedemann-Steiner syndrome
- OMIM:605130 Wiedemann-Steiner syndrome
- OMIM:314600 Wildervanck syndrome
- ORPHA:3456 Wildervanck syndrome
- ORPHA:904 Williams syndrome
- OMIM:609757 Williams-Beuren region duplication syndrome
- OMIM:194050 Williams-Beuren syndrome
- ORPHA:3459 Wilson-Turner syndrome
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:604928 Wolfram syndrome 2
- OMIM:598500 Wolfram syndrome, mitochondrial form
- ORPHA:411590 Wolfram-like syndrome
- OMIM:614296 Wolfram-Like syndrome, autosomal dominant
- ORPHA:3464 Woodhouse-Sakati syndrome
- OMIM:241080 Woodhouse-Sakati syndrome
- ORPHA:79414 Woolly hair nevus
- OMIM:278200 Woolly hair, hypotrichosis, everted lower lip, and outstanding ears
- ORPHA:3465 Worster-Drought syndrome
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
- OMIM:194350 Wt limb-blood syndrome
- ORPHA:53719 Wyburn-Mason syndrome
Disease code
Disease name
- ORPHA:96201 X small rings
- ORPHA:43 X-linked adrenoleukodystrophy
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:139396 X-linked cerebral adrenoleukodystrophy
- ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome
- ORPHA:101075 X-linked Charcot-Marie-Tooth disease type 1
- ORPHA:101076 X-linked Charcot-Marie-Tooth disease type 2
- ORPHA:101078 X-linked Charcot-Marie-Tooth disease type 4
- ORPHA:99014 X-linked Charcot-Marie-Tooth disease type 5
- ORPHA:352675 X-linked Charcot-Marie-Tooth disease type 6
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations
- ORPHA:85273 X-linked intellectual disability, Abidi type
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- ORPHA:163971 X-linked intellectual disability, Cilliers type
- ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type
- ORPHA:163937 X-linked intellectual disability, Najm type
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85322 X-linked intellectual disability, Pai type
- ORPHA:93945 X-linked intellectual disability, Porteous type
- ORPHA:85285 X-linked intellectual disability, Schimke type
- ORPHA:85323 X-linked intellectual disability, Seemanova type
- ORPHA:85286 X-linked intellectual disability, Shashi type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:85325 X-linked intellectual disability, Stevenson type
- ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type
- ORPHA:163976 X-linked intellectual disability, Van Esch type
- ORPHA:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
- ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
- ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome
- ORPHA:1131 X-linked mandibulofacial dysostosis
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:85297 X-linked spinocerebellar ataxia type 3
- ORPHA:910 Xeroderma pigmentosum
- OMIM:278700 Xeroderma pigmentosum, complementation group A
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- OMIM:278730 Xeroderma pigmentosum, complementation group D
- OMIM:278760 Xeroderma pigmentosum, complementation group F
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- OMIM:610965 XFE progeroid syndrome
- OMIM:615829 Xia-Gibbs syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
- OMIM:303110 Xq21 deletion syndrome
- ORPHA:1435 Xq21 microdeletion syndrome
Disease code
Disease name
Disease code
Disease name
- OMIM:619648 Zaki syndrome
- OMIM:612916 Zechi-Ceide syndrome
- ORPHA:217017 Zechi-Ceide syndrome
- ORPHA:912 Zellweger syndrome
- ORPHA:448237 Zika virus disease
- ORPHA:3473 Zimmermann-Laband syndrome
- OMIM:135500 Zimmermann-Laband syndrome 1
- OMIM:616455 Zimmermann-Laband syndrome 2
- OMIM:617140 Zttk syndrome
- OMIM:280000 Zunich neuroectodermal syndrome
Associated genes:
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Gene name
- A2ML1
- AAAS
- AARS1
- AASS
- ABCA12
- ABCA4
- ABCB6
- ABCC1
- ABCC8
- ABCC9
- ABCD1
- ABHD12
- ABHD5
- ACAN
- ACBD5
- ACER3
- ACO2
- ACOX1
- ACP5
- ACSL4
- ACTA1
- ACTB
- ACTC1
- ACTG1
- ACTG2
- ACTN2
- ACVR1
- ACY1
- ADA
- ADA2
- ADAM17
- ADAMTS18
- ADAMTS3
- ADAMTSL1
- ADAMTSL2
- ADAR
- ADAT3
- ADCY1
- ADGRG1
- ADGRG6
- ADGRV1
- ADK
- ADNP
- ADPRS
- ADSL
- AEBP1
- AFF3
- AFF4
- AGA
- AGBL5
- AGO2
- AGPAT2
- AGRN
- AHDC1
- AHI1
- AHR
- AHSG
- AIFM1
- AIP
- AIPL1
- AIRE
- AK2
- AKAP9
- AKT1
- ALAD
- ALDH18A1
- ALDH1A2
- ALG11
- ALG12
- ALG13
- ALG2
- ALG3
- ALG6
- ALG8
- ALG9
- ALKBH8
- ALMS1
- ALOX12B
- ALOXE3
- ALX1
- ALX3
- ALX4
- AMER1
- AMMECR1
- AMPD2
- ANAPC1
- ANAPC7
- ANK1
- ANK2
- ANKH
- ANKRD1
- ANKRD11
- ANO1
- ANOS1
- ANTXR1
- ANTXR2
- AP1B1
- AP1G1
- AP1S1
- AP1S2
- AP3B1
- AP3D1
- AP4E1
- APC
- APC2
- ARHGAP29
- ARHGDIA
- ARHGEF18
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL2BP
- ARL3
- ARL6
- ARMC9
- ARNT2
- ARSA
- ARSB
- ARSG
- ARSL
- ARVCF
- ASAH1
- ASCL1
- ASH1L
- ASNS
- ASPA
- ASPM
- ASPRV1
- ASXL1
- ASXL2
- ASXL3
- ATG7
- ATIC
- ATL1
- ATL3
- ATP11A
- ATP1A2
- ATP1A3
- ATP2B1
- ATP2B2
- ATP6AP1
- ATP6AP2
- ATP6V0A2
- ATP6V0A4
- ATP6V1A
- ATP6V1B1
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP8B1
- ATR
- ATRIP
- ATRX
- AUTS2
Gene name
- B3GALNT2
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALT1
- B4GALT7
- B4GAT1
- B9D1
- B9D2
- BAG3
- BAG5
- BAP1
- BAZ1B
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BCAP31
- BCL11A
- BCL11B
- BCL7B
- BCOR
- BCR
- BCS1L
- BDNF
- BDP1
- BEST1
- BHLHA9
- BICD2
- BICRA
- BIN1
- BLM
- BLNK
- BLTP1
- BMP1
- BMP15
- BMP2
- BMP4
- BMPER
- BMPR1A
- BNC1
- BPNT2
- BPTF
- BRAF
- BRCA1
- BRCA2
- BRCC3
- BRD4
- BRF1
- BRIP1
- BRPF1
- BRWD3
- BSCL2
- BSND
- BTD
- BTK
- BTRC
- BUB1
- BUB1B
- BUB3
- BUD23
Gene name
- C12orf57
- C1QBP
- C2CD3
- C4A
- C4B
- CA2
- CA4
- CABP2
- CACNA1C
- CACNA1D
- CACNA1G
- CACNA1I
- CACNB4
- CALM1
- CALM2
- CALM3
- CAMK2A
- CAMK2G
- CAMKMT
- CAMTA1
- CANT1
- CAP2
- CAPN15
- CARMIL2
- CARS1
- CARS2
- CASK
- CASQ2
- CASZ1
- CAT
- CATSPER2
- CAV1
- CAV3
- CBL
- CBY1
- CC2D2A
- CCBE1
- CCDC103
- CCDC134
- CCDC141
- CCDC22
- CCDC28B
- CCDC32
- CCDC39
- CCDC40
- CCDC47
- CCDC50
- CCDC65
- CCDC8
- CCND1
- CCNK
- CCNO
- CCNQ
- CCR1
- CD109
- CD151
- CD164
- CD19
- CD247
- CD3D
- CD3E
- CD3G
- CD4
- CD79A
- CD79B
- CD81
- CD96
- CDC14A
- CDC42
- CDC42BPB
- CDC45
- CDC6
- CDCA7
- CDH1
- CDH11
- CDH2
- CDH23
- CDHR1
- CDK10
- CDK13
- CDK5RAP2
- CDK8
- CDKN1C
- CDON
- CDT1
- CEACAM16
- CEACAM3
- CEACAM6
- CENPE
- CENPF
- CENPJ
- CEP104
- CEP120
- CEP152
- CEP19
- CEP250
- CEP290
- CEP41
- CEP55
- CEP57
- CEP78
- CERKL
- CERS3
- CERT1
- CFAP221
- CFAP298
- CFAP300
- CFAP418
- CFAP45
- CFAP52
- CFI
- CFTR
- CHAMP1
- CHAT
- CHCHD10
- CHD3
- CHD4
- CHD5
- CHD7
- CHD8
- CHMP1A
- CHN1
- CHRNA1
- CHRNA7
- CHRND
- CHRNG
- CHST14
- CHST3
- CHSY1
- CHUK
- CIB2
- CIITA
- CILK1
- CISD2
- CIT
- CLCA4
- CLCF1
- CLCN2
- CLCN3
- CLCN6
- CLCN7
- CLCNKA
- CLCNKB
- CLDN14
- CLDN9
- CLIC2
- CLIC5
- CLIP2
- CLPP
- CLRN1
- CLRN2
- CLTC
- CNGA1
- CNGB1
- CNNM2
- CNOT1
- CNOT2
- CNOT3
- CNTNAP1
- COA8
- COCH
- COG1
- COG5
- COG7
- COL11A1
- COL11A2
- COL13A1
- COL1A1
- COL1A2
- COL27A1
- COL2A1
- COL3A1
- COL4A1
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COL5A1
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COL9A1
- COL9A2
- COL9A3
- COLEC10
- COLEC11
- COMT
- COQ2
- COQ6
- COQ7
- COQ8A
- COX10
- COX15
- COX16
- COX7B
- CPE
- CPLANE1
- CPLX1
- CPOX
- CPT2
- CR2
- CRB1
- CREB3L1
- CREBBP
- CRKL
- CRLF1
- CRPPA
- CRTAP
- CRX
- CRYAB
- CRYM
- CSGALNACT1
- CSNK2A1
- CSPP1
- CSRP3
- CTBP1
- CTC1
- CTCF
- CTH
- CTLA4
- CTNNB1
- CTNND1
- CTNND2
- CTSA
- CTSD
- CTSK
- CTU2
- CUL4B
- CUL7
- CWC27
- CXCR4
- CYBA
- CYBB
- CYBC1
- CYP11B1
- CYP11B2
- CYP4F22
- CYP7B1
Gene name
- DACT1
- DAG1
- DARS2
- DBH
- DCAF17
- DCC
- DCDC2
- DCHS1
- DCLRE1C
- DCPS
- DCTN4
- DDB1
- DDB2
- DDR2
- DDX11
- DDX3X
- DDX59
- DDX6
- DEAF1
- DENND5A
- DES
- DGCR2
- DGCR6
- DGCR8
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHODH
- DHPS
- DHX16
- DHX30
- DHX37
- DHX38
- DIABLO
- DIAPH1
- DIAPH3
- DIS3L2
- DISP1
- DKC1
- DKK1
- DLG1
- DLK1
- DLL1
- DLL3
- DLST
- DLX4
- DLX5
- DLX6
- DMD
- DMP1
- DMXL2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DNAJC19
- DNAJC21
- DNAJC3
- DNAJC30
- DNAL1
- DNASE1L3
- DNM1L
- DNMT1
- DNMT3A
- DNMT3B
- DOCK2
- DOCK6
- DOCK7
- DOCK8
- DOK7
- DOLK
- DONSON
- DPAGT1
- DPF2
- DPH1
- DPH2
- DPP6
- DPYD
- DPYSL5
- DRC1
- DSE
- DSG2
- DSP
- DSPP
- DST
- DTYMK
- DUOX2
- DUOXA2
- DUSP6
- DUX4
- DUX4L1
- DVL1
- DVL3
- DYM
- DYNC2LI1
- DYRK1A
- DZIP1L
Gene name
- EBF3
- EBP
- ECE1
- ECHS1
- EDC3
- EDEM3
- EDN1
- EDN3
- EDNRA
- EDNRB
- EED
- EEF1A2
- EFEMP2
- EFL1
- EFNB1
- EFTUD2
- EGFR
- EHMT1
- EIF2S3
- EIF3F
- EIF4H
- EIF5A
- ELAC2
- ELANE
- ELMO2
- ELMOD3
- ELN
- ELOVL1
- EMC1
- ENPP1
- EP300
- EPAS1
- EPB41L1
- EPG5
- EPOR
- EPRS1
- EPS15L1
- EPS8
- EPS8L2
- EPS8L3
- ERAL1
- ERAP1
- ERBB2
- ERBB3
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- ERF
- ERLIN2
- ERMARD
- ESCO2
- ESPN
- ESRP1
- ESRRB
- ESS2
- ETFA
- ETFB
- ETFDH
- EVC
- EVC2
- EXOC2
- EXOC6B
- EXOC7
- EXOSC2
- EXOSC8
- EXOSC9
- EXT1
- EXT2
- EYA1
- EYA4
- EYS
- EZH2
Gene name
- FAM149B1
- FAM161A
- FAM20C
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FAR1
- FARS2
- FAS
- FAT4
- FBLN5
- FBN1
- FBN2
- FBXL4
- FBXO11
- FBXW11
- FBXW4
- FBXW7
- FCGR3A
- FDFT1
- FDXR
- FEZF1
- FGD1
- FGF10
- FGF14
- FGF17
- FGF20
- FGF3
- FGF8
- FGF9
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FH
- FHL1
- FHL2
- FIBP
- FIG4
- FIP1L1
- FITM2
- FKBP10
- FKBP14
- FKBP6
- FKRP
- FKTN
- FLCN
- FLI1
- FLII
- FLNA
- FLNB
- FLRT3
- FN1
- FOCAD
- FOXC1
- FOXF1
- FOXG1
- FOXH1
- FOXI1
- FOXJ1
- FOXL2
- FOXP1
- FOXP2
- FOXRED1
- FRAS1
- FREM1
- FREM2
- FRG1
- FRMD4A
- FRMPD4
- FSCN2
- FSHR
- FTO
- FTSJ1
- FUCA1
- FUS
- FZD2
- FZD4
Gene name
- G6PC3
- GAA
- GAB1
- GABRA3
- GABRD
- GAD1
- GALC
- GALE
- GALK1
- GALNS
- GALNT2
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA2
- GATA3
- GATA4
- GATAD1
- GATB
- GATC
- GBA1
- GBA2
- GCDH
- GCGR
- GCH1
- GCK
- GCLC
- GDF11
- GDF3
- GDF5
- GDF6
- GDNF
- GFER
- GFRA1
- GGPS1
- GIPC3
- GJA1
- GJA5
- GJA8
- GJB1
- GJB2
- GJB3
- GJB4
- GJB6
- GJC2
- GK
- GLA
- GLB1
- GLE1
- GLI2
- GLI3
- GLIS3
- GLRA2
- GLUL
- GLYCTK
- GMNN
- GMPPA
- GMPPB
- GNAI3
- GNAQ
- GNAS
- GNB1
- GNB2
- GNE
- GNPTAB
- GNRH1
- GNRHR
- GNS
- GON7
- GP1BA
- GP1BB
- GPC3
- GPC4
- GPC6
- GPKOW
- GPR101
- GPRASP2
- GPSM2
- GPT2
- GPX4
- GRAP
- GRB10
- GREB1L
- GRHL2
- GRHL3
- GRIA3
- GRIA4
- GRIK2
- GRIP1
- GRM1
- GRM7
- GRXCR1
- GRXCR2
- GSC
- GSDME
- GSN
- GSTM3
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP2
- GUCA1B
- GUCY2D
- GUSB
- GYG1
- GZF1
Gene name
- H19
- H3-3A
- H3-3B
- H4C3
- H4C5
- H4C9
- HAAO
- HACE1
- HAND2
- HARS1
- HARS2
- HAX1
- HBA1
- HBA2
- HCCS
- HDAC4
- HDAC6
- HDAC8
- HEATR3
- HECW2
- HELLS
- HEPHL1
- HERC1
- HES7
- HESX1
- HFE
- HGD
- HGF
- HGSNAT
- HHAT
- HIRA
- HIVEP2
- HK1
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DRB1
- HMGA2
- HMGB3
- HMOX1
- HMX1
- HNF1B
- HNRNPH1
- HNRNPK
- HOMER2
- HOXA1
- HOXA11
- HOXA13
- HOXA2
- HOXB1
- HOXD13
- HRAS
- HS2ST1
- HS6ST1
- HS6ST2
- HSD17B10
- HSD17B4
- HSPA9
- HSPD1
- HSPG2
- HTRA2
- HUWE1
- HYAL1
- HYLS1
- HYMAI
Gene name
- IARS1
- IARS2
- ICOS
- IDH1
- IDH3A
- IDH3B
- IDUA
- IFIH1
- IFNG
- IFNGR1
- IFRD1
- IFT122
- IFT140
- IFT172
- IFT27
- IFT52
- IFT74
- IFT81
- IFT88
- IGBP1
- IGF1
- IGF1R
- IGF2
- IGHG2
- IGHM
- IGKC
- IGLL1
- IKBKB
- IKBKG
- IL10
- IL11RA
- IL12A
- IL12A-AS1
- IL17RA
- IL17RD
- IL1RAPL1
- IL21R
- IL23R
- IL2RB
- IL2RG
- IL6R
- IL6ST
- IL7R
- ILDR1
- IMPDH1
- IMPDH2
- IMPG1
- IMPG2
- INPP5E
- INPPL1
- INS
- INSR
- INTS1
- INTU
- IPO8
- IQCB1
- IQSEC2
- IREB2
- IRF2BP2
- IRF6
- IRX5
- ITCH
- ITGA2
- ITGA2B
- ITGA3
- ITGA6
- ITGA8
- ITGB3
- ITGB4
- ITGB6
- ITM2B
- ITPR1
- IYD
Gene name
- KANSL1
- KARS1
- KAT5
- KAT6A
- KAT6B
- KAT8
- KATNB1
- KATNIP
- KCNA1
- KCNAB2
- KCNC3
- KCNE1
- KCNE2
- KCNE5
- KCNH1
- KCNH2
- KCNJ1
- KCNJ10
- KCNJ11
- KCNJ13
- KCNJ16
- KCNJ2
- KCNJ5
- KCNK4
- KCNK9
- KCNN3
- KCNN4
- KCNQ1
- KCNQ1OT1
- KCNQ4
- KCTD1
- KDM3B
- KDM4B
- KDM5B
- KDM5C
- KDM6A
- KDM6B
- KDSR
- KIAA0586
- KIAA0753
- KIAA1549
- KIF11
- KIF14
- KIF15
- KIF1A
- KIF1B
- KIF5A
- KIF7
- KIFBP
- KISS1
- KISS1R
- KIT
- KITLG
- KIZ
- KLF13
- KLHL40
- KLHL41
- KLHL7
- KLLN
- KLRC4
- KMT2A
- KMT2B
- KMT2C
- KMT2D
- KMT5B
- KNSTRN
- KPTN
- KRAS
- KRT16
- KRT17
- KRT5
- KRT6A
- KRT6B
- KYNU
Gene name
- L2HGDH
- LAGE3
- LAMA4
- LAMB1
- LARGE1
- LARP7
- LARS1
- LARS2
- LAS1L
- LBR
- LCA5
- LDB3
- LEMD3
- LETM1
- LFNG
- LGI4
- LHFPL5
- LHX1
- LHX3
- LHX4
- LIFR
- LIG1
- LIG3
- LIG4
- LIMK1
- LIPN
- LIPT1
- LMBRD1
- LMBRD2
- LMNA
- LMNB1
- LMNB2
- LMOD3
- LMX1A
- LMX1B
- LONP1
- LORICRIN
- LOXHD1
- LOXL3
- LRAT
- LRBA
- LRP12
- LRP2
- LRP4
- LRP5
- LRRC32
- LRRC56
- LRRC8A
- LRTOMT
- LSM11
- LSS
- LTBP1
- LUZP1
- LZTFL1
- LZTR1
Gene name
- MAB21L1
- MACF1
- MAD2L2
- MADD
- MAF
- MAFB
- MAGEL2
- MAGT1
- MAK
- MAN1B1
- MAN2B1
- MAN2C1
- MANBA
- MAP1B
- MAP2K1
- MAP2K2
- MAP3K20
- MAP3K7
- MAPK1
- MAPK8IP3
- MAPKAPK5
- MAPRE2
- MARS2
- MARVELD2
- MASP1
- MAX
- MBD5
- MBTPS1
- MBTPS2
- MCIDAS
- MCM2
- MCTP2
- MDH2
- MECOM
- MECP2
- MED12
- MED13L
- MED25
- MED27
- MEF2C
- MEFV
- MEG3
- MEGF8
- MEIS2
- MEN1
- MEOX1
- MERTK
- MESD
- MESP2
- MET
- METTL27
- METTL5
- MFN2
- MGAT2
- MGP
- MIA3
- MICOS13
- MICU1
- MID1
- MID2
- MIF
- MINPP1
- MIR96
- MITF
- MKKS
- MKS1
- MLXIPL
- MMACHC
- MMP23B
- MN1
- MNS1
- MOGS
- MORC2
- MPDU1
- MPDZ
- MPEG1
- MPL
- MPLKIP
- MPZ
- MPZL2
- MRAS
- MRPL12
- MRPS14
- MRPS16
- MRPS2
- MRPS22
- MRPS28
- MRPS7
- MRTFA
- MS4A1
- MSL3
- MSRB3
- MSTO1
- MSX1
- MSX2
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND5
- MT-ND6
- MT-RNR1
- MT-TC
- MT-TE
- MT-TF
- MT-TH
- MT-TI
- MT-TK
- MT-TL1
- MT-TN
- MT-TP
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TV
- MT-TW
- MTFMT
- MTHFD1
- MTHFR
- MTRR
- MTSS2
- MTX2
- MUSK
- MVK
- MYBPC3
- MYCN
- MYD88
- MYH11
- MYH14
- MYH3
- MYH6
- MYH7
- MYH9
- MYL2
- MYMK
- MYMX
- MYO15A
- MYO18B
- MYO3A
- MYO6
- MYO7A
- MYO9A
- MYOD1
- MYPN
- MYSM1
Gene name
- NAA10
- NAA20
- NABP1
- NAGA
- NAGLU
- NALCN
- NANS
- NARS1
- NARS2
- NAXD
- NBN
- NCF2
- NCF4
- NCKAP1L
- NDE1
- NDNF
- NDP
- NDRG1
- NDST1
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB8
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECTIN1
- NEDD4L
- NEFL
- NEK1
- NEK10
- NEK2
- NEK9
- NELFA
- NEU1
- NEXMIF
- NEXN
- NF2
- NFIA
- NFIX
- NFKB1
- NFKB2
- NGLY1
- NHP2
- NHS
- NIN
- NIPA1
- NIPA2
- NIPAL4
- NIPBL
- NKAP
- NKX2-1
- NKX2-5
- NLRP12
- NLRP3
- NME5
- NME8
- NMNAT1
- NOD2
- NODAL
- NOG
- NOP10
- NOS1AP
- NOTCH3
- NPHP1
- NPM1
- NPPA
- NR2E3
- NR2F1
- NR4A2
- NR5A1
- NRAS
- NRCAM
- NRL
- NRTN
- NSD1
- NSD2
- NSDHL
- NSMF
- NSRP1
- NSUN2
- NTNG2
- NUBPL
- NUMA1
- NUP107
- NUP133
- NUP188
- NUP85
- NUP88
- NUS1
- NXN
Gene name
Gene name
- P2RX2
- P4HA2
- PACS1
- PAFAH1B1
- PAH
- PAICS
- PAK1
- PAK3
- PALB2
- PAM16
- PARN
- PAX1
- PAX2
- PAX3
- PAX6
- PAX7
- PBX1
- PCARE
- PCDH15
- PCDHGC4
- PCGF2
- PCLO
- PCNA
- PCNT
- PCYT1A
- PDE1C
- PDE4D
- PDE6A
- PDE6B
- PDE6D
- PDE6G
- PDGFB
- PDGFRA
- PDGFRB
- PDHA1
- PDK3
- PDPN
- PDSS1
- PDX1
- PDZD7
- PDZD8
- PEPD
- PERP
- PET100
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PGAP1
- PGAP2
- PGAP3
- PGM1
- PGM3
- PHACTR1
- PHEX
- PHF6
- PHGDH
- PHIP
- PHYH
- PI4KA
- PIBF1
- PIEZO1
- PIEZO2
- PIGA
- PIGB
- PIGG
- PIGH
- PIGK
- PIGL
- PIGN
- PIGO
- PIGQ
- PIGS
- PIGT
- PIGU
- PIGV
- PIGW
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PISD
- PITX1
- PITX2
- PJVK
- PKHD1
- PLA2G6
- PLAA
- PLAG1
- PLAGL1
- PLCB4
- PLCG2
- PLCH1
- PLEC
- PLG
- PLK4
- PLN
- PLOD1
- PLOD3
- PLP1
- PLS1
- PLVAP
- PLXNA1
- PLXND1
- PML
- PMM2
- PMP22
- PMPCB
- PNP
- PNPLA1
- PNPLA2
- PNPLA6
- PNPLA8
- PNPT1
- POC1A
- POGZ
- POLA1
- POLD1
- POLE
- POLG
- POLG2
- POLR1A
- POLR1B
- POLR1C
- POLR1D
- POLR3A
- POLR3GL
- POLR3H
- POLRMT
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- POR
- PORCN
- POU1F1
- POU3F3
- POU3F4
- POU4F1
- POU4F3
- PPCS
- PPFIBP1
- PPIP5K2
- PPM1B
- PPM1D
- PPP1CB
- PPP1R12A
- PPP1R15B
- PPP1R21
- PPP2R3C
- PPP2R5D
- PQBP1
- PRCD
- PRDM12
- PRDM16
- PRDM5
- PRDX1
- PREPL
- PRF1
- PRG4
- PRIM1
- PRKAR1A
- PRKAR1B
- PRKCD
- PRKCZ
- PRKDC
- PRKG2
- PRMT7
- PROK2
- PROKR2
- PROM1
- PROP1
- PRORP
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- PRPS1
- PRR12
- PRRT2
- PRRX1
- PRTN3
- PRUNE1
- PSAP
- PSAT1
- PSEN1
- PSEN2
- PSMB1
- PSMB8
- PSMC1
- PSMC3
- PSMC3IP
- PSMD12
- PTCD3
- PTCH1
- PTDSS1
- PTEN
- PTF1A
- PTH1R
- PTPN11
- PTPN22
- PTPRF
- PTPRQ
- PTRH2
- PUF60
- PUM1
- PURA
- PUS3
- PUS7
- PYCR1
- PYCR2
Gene name
- RAB11B
- RAB18
- RAB23
- RAB3GAP1
- RAB3GAP2
- RAB5IF
- RAC1
- RAC2
- RAD21
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RALA
- RALGAPA1
- RAPSN
- RARA
- RARB
- RASA2
- RB1
- RBBP8
- RBM10
- RBM20
- RBMX
- RBP3
- RD3
- RDH11
- RDH12
- RDH5
- RDX
- RECQL4
- REEP6
- RELB
- RELN
- RERE
- REST
- RET
- REV3L
- RFC2
- RFT1
- RFWD3
- RFX5
- RFXANK
- RFXAP
- RGR
- RHO
- RHOBTB2
- RIC1
- RIPK4
- RIPOR2
- RIPPLY2
- RIT1
- RLBP1
- RMND1
- RMRP
- RNASEH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RNF113A
- RNF13
- RNF135
- RNF168
- RNF2
- RNF220
- RNU12
- RNU4ATAC
- RNU7-1
- ROBO3
- ROM1
- ROR1
- ROR2
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPGRIP1
- RPGRIP1L
- RPL10
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS23
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS6KA3
- RPS7
- RRAS
- RRAS2
- RREB1
- RRM2B
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO2
- RSPRY1
- RTEL1
- RTL1
- RTTN
- RUNX2
- RUSC2
- RXYLT1
- RYR1
- RYR2
Gene name
- S1PR2
- SAG
- SALL1
- SALL4
- SAMHD1
- SARDH
- SATB1
- SATB2
- SBDS
- SBF2
- SC5D
- SCAPER
- SCARF2
- SCD5
- SCN10A
- SCN1A
- SCN1B
- SCN2A
- SCN4B
- SCN5A
- SCNM1
- SCO2
- SCYL2
- SDCCAG8
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC23B
- SEC24C
- SEC31A
- SELENOI
- SEM1
- SEMA3A
- SEMA3C
- SEMA3D
- SEMA3E
- SEMA4A
- SEMA5A
- SEPTIN9
- SERAC1
- SERPINA1
- SERPINB6
- SET
- SETBP1
- SETD1A
- SETD2
- SETD5
- SF3B2
- SF3B4
- SGCD
- SGMS2
- SGPL1
- SGSH
- SH2B1
- SH2B3
- SH3KBP1
- SH3PXD2B
- SH3TC2
- SHANK3
- SHH
- SHOC2
- SIAH1
- SIM1
- SIN3A
- SIN3B
- SIX1
- SIX2
- SIX3
- SIX5
- SIX6
- SKI
- SKIC3
- SLC10A7
- SLC11A1
- SLC12A2
- SLC12A3
- SLC12A6
- SLC16A2
- SLC17A8
- SLC18A3
- SLC19A2
- SLC19A3
- SLC1A3
- SLC1A4
- SLC25A1
- SLC25A10
- SLC25A11
- SLC25A12
- SLC25A24
- SLC25A4
- SLC26A2
- SLC26A4
- SLC26A5
- SLC26A9
- SLC29A3
- SLC2A1
- SLC2A10
- SLC30A9
- SLC33A1
- SLC35A2
- SLC35C1
- SLC37A4
- SLC39A14
- SLC39A7
- SLC39A8
- SLC3A1
- SLC44A4
- SLC4A11
- SLC52A2
- SLC52A3
- SLC5A5
- SLC5A7
- SLC6A14
- SLC6A17
- SLC6A8
- SLC6A9
- SLC7A14
- SLC9A3
- SLC9A6
- SLITRK6
- SLX4
- SMAD2
- SMAD4
- SMARCA2
- SMARCA4
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMG8
- SMG9
- SMO
- SMOC1
- SMPD4
- SMPX
- SMS
- SNAI2
- SNAP25
- SNAP29
- SNRNP200
- SNRPB
- SNTA1
- SNX10
- SNX14
- SOD1
- SON
- SOS1
- SOS2
- SOST
- SOX10
- SOX11
- SOX2
- SOX3
- SOX4
- SOX5
- SOX6
- SOX9
- SP7
- SPAG1
- SPARC
- SPART
- SPATA5
- SPATA5L1
- SPATA7
- SPECC1L
- SPEF2
- SPEG
- SPEN
- SPG7
- SPIDR
- SPINT2
- SPNS2
- SPOP
- SPRED1
- SPRED2
- SPRY4
- SPTBN1
- SPTBN4
- SPTLC1
- SPTLC2
- SQSTM1
- SRCAP
- SRD5A3
- SREBF1
- SRP54
- SRP72
- SRPX2
- SRY
- SSR4
- ST3GAL5
- STAC3
- STAG1
- STAG2
- STAMBP
- STAT3
- STAT4
- STAT5B
- STEEP1
- STIL
- STK36
- STRA6
- STRC
- STT3A
- STUB1
- STX11
- STX1A
- STXBP1
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SULT2B1
- SUMF1
- SUOX
- SUPT16H
- SURF1
- SUZ12
- SYK
- SYNE1
- SYNE4
- SYNGAP1
- SYT2
Gene name
- TAB2
- TAC3
- TACO1
- TACR3
- TAF1
- TAF1A
- TAFAZZIN
- TALDO1
- TANGO2
- TAOK1
- TAP1
- TAP2
- TAPBP
- TAPT1
- TARDBP
- TARS1
- TASP1
- TBC1D20
- TBC1D23
- TBC1D24
- TBCD
- TBCE
- TBCK
- TBK1
- TBL1XR1
- TBL1Y
- TBL2
- TBR1
- TBX1
- TBX15
- TBX2
- TBX22
- TBX4
- TBX5
- TCAP
- TCF12
- TCF20
- TCF3
- TCF4
- TCIRG1
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TDO2
- TECRL
- TECTA
- TELO2
- TENM3
- TERC
- TERT
- TET2
- TET3
- TFAP2A
- TFAP2B
- TFE3
- TG
- TGDS
- TGFB1
- TGFB3
- TGIF1
- TGM1
- THOC2
- THOC6
- THPO
- THRB
- THUMPD1
- TIMM8A
- TIMMDC1
- TINF2
- TK2
- TKT
- TLK2
- TLR4
- TLR8
- TMC1
- TMCO1
- TMEM107
- TMEM126A
- TMEM126B
- TMEM127
- TMEM132E
- TMEM138
- TMEM147
- TMEM165
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM260
- TMEM270
- TMEM38B
- TMEM43
- TMEM53
- TMEM67
- TMEM70
- TMEM94
- TMIE
- TMPO
- TMPRSS3
- TNC
- TNFRSF11A
- TNFRSF11B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFSF11
- TNFSF12
- TNNC1
- TNNI2
- TNNI3
- TNNT2
- TNNT3
- TNPO2
- TNRC6B
- TOE1
- TOGARAM1
- TOP3A
- TOPORS
- TOR1A
- TP53RK
- TP63
- TP73
- TPK1
- TPM1
- TPM2
- TPM3
- TPO
- TPP2
- TPRKB
- TPRN
- TRAF7
- TRAIP
- TRAPPC11
- TRAPPC12
- TRAPPC4
- TRAPPC9
- TRDN
- TREX1
- TRIM32
- TRIO
- TRIOBP
- TRIP11
- TRIP12
- TRIP13
- TRMT1
- TRMT10A
- TRMU
- TRNT1
- TRPM4
- TRPS1
- TRPV3
- TRPV4
- TRRAP
- TSC2
- TSHZ1
- TSPAN12
- TSPEAR
- TSR2
- TTC12
- TTC19
- TTC26
- TTC5
- TTC8
- TTI2
- TTN
- TTR
- TUB
- TUBA1A
- TUBB
- TUBB3
- TUBB4B
- TUBG1
- TUBGCP2
- TUBGCP4
- TUBGCP6
- TULP1
- TWIST1
- TWIST2
- TWNK
- TXNDC15
- TXNL4A
- TXNRD2
- TYMP
- TYMS
- TYR
Gene name
Gene name
Gene name
International Division
Monday-Friday : 8h30 - 18h30
T. : +33 4 72 80 23 85
Contact by email
T. : +33 4 72 80 23 85
Contact by email
