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Abnormality of the respiratory system
Therapeutic area code (HPO):
HP:0002086Panel «Abnormality of the respiratory system» :
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Disease code
Disease name
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:261183 15q11.2 microdeletion syndrome
- ORPHA:261190 15q14 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:261272 17q12 microduplication syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- OMIM:610006 2-Methylbutyryl-Coa dehydrogenase deficiency
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:1727 22q11.2 duplication syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:1617 2q24 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:250951 3-@methylglutaconic aciduria, type IV
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:273750 3-M syndrome 1
- OMIM:210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency
- ORPHA:6 3-methylcrotonyl-CoA carboxylase deficiency
- ORPHA:445038 3-methylglutaconic aciduria type 7
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:7 3C syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:8 47,XYY syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:99329 48,XYYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Disease code
Disease name
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:100050 Aarskog syndrome, autosomal dominant
- ORPHA:14 Abetalipoproteinemia
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:99050 Abnormal origin of right or left pulmonary artery from the aorta
- ORPHA:980 Absence of the pulmonary artery
- ORPHA:945 Acalvaria
- ORPHA:926 Acatalasemia
- OMIM:619959 ACCES syndrome
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:100800 Achondroplasia
- ORPHA:15 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:958 Acro-renal-mandibular syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:280651 Acrodysostosis with multiple hormone resistance
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- OMIM:200980 Acrorenal-Mandibular syndrome
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:79126 Acute interstitial pneumonia
- ORPHA:90062 Acute liver failure
- ORPHA:178320 Acute lung injury
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:517 Acute myelomonocytic leukemia
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:974 Adams-Oliver syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:616028 Adams-Oliver syndrome 5
- OMIM:201550 Adducted thumbs syndrome
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:99976 Adenocarcinoma of the esophagus
- ORPHA:404448 ADNP syndrome
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:70578 Adult acute respiratory distress syndrome
- ORPHA:178487 Adult intestinal botulism
- ORPHA:79262 Adult neuronal ceroid lipofuscinosis
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:420492 Adult-onset cervical dystonia, DYT23 type
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:619707 Agammaglobulinemia 10, autosomal dominant
- OMIM:613500 Agammaglobulinemia 2, autosomal recessive
- OMIM:613501 Agammaglobulinemia 3, autosomal recessive
- OMIM:613502 Agammaglobulinemia 4, autosomal recessive
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:615214 Agammaglobulinemia 7, autosomal recessive
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- 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
- OMIM:304050 Aicardi syndrome
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:615846 Aicardi-Goutieres syndrome 7
- ORPHA:85443 AL amyloidosis
- OMIM:609465 Al-Gazali syndrome
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- ORPHA:319671 Alazami syndrome
- ORPHA:58 Alexander disease
- ORPHA:79327 ALG1-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79328 ALG9-CDG
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:1164 Allergic bronchopulmonary aspergillosis
- ORPHA:93925 Alobar holoprosencephaly
- ORPHA:1006 Alopecia antibody deficiency
- OMIM:613490 Alpha-1-Antitrypsin deficiency
- ORPHA:60 Alpha-1-antitrypsin deficiency
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:63 Alport syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:2131 Alternating hemiplegia of childhood
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- ORPHA:3386 American trypanosomiasis
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- ORPHA:98902 Amish nemaline myopathy
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:803 Amyotrophic lateral sclerosis
- OMIM:105400 Amyotrophic lateral sclerosis 1
- OMIM:612069 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia
- OMIM:613435 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
- OMIM:615515 Amyotrophic lateral sclerosis 19
- OMIM:606070 Amyotrophic lateral sclerosis 21
- OMIM:602099 Amyotrophic lateral sclerosis 5, juvenile
- OMIM:617892 Amyotrophic lateral sclerosis, susceptibility to, 24
- OMIM:616000 Analbuminemia
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:618853 Anauxetic dysplasia 3
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:1054 Aneurysm of sinus of Valsalva
- OMIM:106100 Angioedema, hereditary, 1
- OMIM:610618 Angioedema, hereditary, 3
- OMIM:619360 Angioedema, hereditary, 4
- OMIM:619367 Angioedema, hereditary, 8
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability 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:375 Anti-glomerular basement membrane disease
- ORPHA:81 Antisynthetase syndrome
- OMIM:613118 Antithrombin III deficiency
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- ORPHA:1457 Aorta coarctation
- OMIM:619825 Aortic aneurysm, familial thoracic 12
- ORPHA:2299 Aortic arch interruption
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- OMIM:207620 Aphalangy with hemivertebrae
- ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- OMIM:207720 Apnea, central sleep
- OMIM:107640 Apnea, central sleep
- OMIM:107650 Apnea, obstructive sleep
- ORPHA:498359 Aquagenic palmoplantar keratoderma
- ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:101096 Aregenerative anemia
- OMIM:243910 Arima syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- OMIM:610476 Arrhythmogenic right ventricular dysplasia, familial, 11
- OMIM:609040 Arrhythmogenic right ventricular dysplasia, familial, 9
- OMIM:208000 Arterial calcification, generalized, of infancy, 1
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:108050 Arteritis, familial granulomatous, with juvenile polyarthritis
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:619334 Arthrogryposis multiplex congenita 6
- OMIM:208155 Arthrogryposis multiplex congenita with whistling face
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:108145 Arthrogryposis, distal, type 5
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- OMIM:208081 Arthrogryposis, distal, with mental retardation and characteristicfacies
- OMIM:614262 Arthrogryposis, perthes disease, and upward gaze palsy
- OMIM:301835 Arts syndrome
- ORPHA:2302 Asbestos intoxication
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:208550 Asthma, nasal polyps, and aspirin intolerance
- OMIM:208600 Asthma, short stature, and elevated iga
- OMIM:600807 Asthma, susceptibility to
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- ORPHA:56305 Atelosteogenesis type III
- OMIM:108720 Atelosteogenesis, type I
- OMIM:256050 Atelosteogenesis, type II
- OMIM:601536 Athabaskan brainstem dysgenesis syndrome
- OMIM:614433 Atrial septal defect 8
- OMIM:614475 Atrial septal defect 9
- OMIM:108900 Atrial septal defect with atrioventricular conduction defects
- ORPHA:99104 Atrial septal defect, coronary sinus type
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:99103 Atrial septal defect, ostium secundum type
- ORPHA:99105 Atrial septal defect, sinus venosus type
- ORPHA:1344 Atrial standstill
- OMIM:615745 Atrial standstill 2
- OMIM:600309 Atrioventricular septal defect 3
- OMIM:606217 Atrioventricular septal defect, susceptibility to, 2
- ORPHA:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:79474 Atypical Werner syndrome
- ORPHA:137888 Auriculocondylar syndrome
- OMIM:602483 Auriculocondylar syndrome 1
- OMIM:614669 Auriculocondylar syndrome 2
- OMIM:615706 Auriculocondylar syndrome 3
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:228312 Autoimmune hemolytic anemia, cold type
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- ORPHA:36913 Autoimmune hypoparathyroidism
- OMIM:616414 Autoimmune interstitial lung, joint, and kidney disease
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:607271 Autoimmune lymphoproliferative syndrome, type IIB
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:616100 Autoimmune lymphoproliferative syndrome, type V
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:616050 Autoinflammation with infantile enterocolitis
- OMIM:614878 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
- OMIM:618999 Autoinflammation, immune dysregulation, and eosinophilia
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- OMIM:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A
- ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:98784 Autosomal dominant nocturnal frontal lobe epilepsy
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:1027 Autosomal recessive amelia
- ORPHA:88644 Autosomal recessive ataxia, Beauce type
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:401835 Autosomal recessive spastic paraplegia type 70
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:454836 Avian influenza
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:168549 Axial spondylometaphyseal dysplasia
Disease code
Disease name
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:618218 Baker-Gordon syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615993 Bardet-Biedl syndrome 16
- OMIM:619471 Bardet-Biedl syndrome 20
- OMIM:604571 Bare lymphocyte syndrome, type I
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:302060 Barth syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:166113 Bazex syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:117 Behçet disease
- ORPHA:306 Benign familial infantile epilepsy
- ORPHA:1949 Benign familial neonatal epilepsy
- ORPHA:324581 Benign Samaritan congenital myopathy
- ORPHA:252164 Benign schwannoma
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:210050 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:118 Beta-mannosidosis
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- ORPHA:610 Bethlem myopathy
- OMIM:158810 Bethlem myopathy 1
- ORPHA:79138 Bickerstaff brainstem encephalitis
- ORPHA:69736 Bilateral acute depigmentation of the iris
- ORPHA:98889 Bilateral perisylvian 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:135150 Birt-Hogg-Dube syndrome
- ORPHA:122 Birt-Hogg-Dubé syndrome
- ORPHA:90340 Blau syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- OMIM:112200 Blue rubber bleb nevus
- ORPHA:217266 BNAR syndrome
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:618165 Bone marrow failure syndrome 5
- OMIM:618849 Bone marrow failure syndrome 6
- ORPHA:1263 Boomerang dysplasia
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- ORPHA:1267 Botulism
- ORPHA:83313 Boutonneuse fever
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:52047 Braddock syndrome
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:209905 Brain-lung-thyroid syndrome
- ORPHA:97287 Bronchial neuroendocrine tumor
- OMIM:211400 Bronchiectasis with or without elevated sweat chloride 1
- OMIM:613021 Bronchiectasis with or without elevated sweat chloride 2
- OMIM:613071 Bronchiectasis with or without elevated sweat chloride 3
- ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease
- ORPHA:2357 Bronchogenic cyst
- ORPHA:70589 Bronchopulmonary dysplasia
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:1304 Brucellosis
- ORPHA:2771 Bruck syndrome
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- OMIM:211500 Bulbar palsy, progressive, of childhood
- ORPHA:280785 Bullous diffuse cutaneous mastocytosis
- OMIM:619314 Buratti-Harel syndrome
- OMIM:617936 Butyrylcholinesterase deficiency
- ORPHA:132 Butyrylcholinesterase deficiency
Disease code
Disease name
- ORPHA:1310 Caffey disease
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- OMIM:211910 Camptodactyly syndrome, guadalajara, type I
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:71505 Cancer-associated retinopathy
- ORPHA:171881 Cap myopathy
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency
- ORPHA:100093 Carcinoid syndrome
- ORPHA:70482 Carcinoma of esophagus
- OMIM:615206 Card11 immunodeficiency
- ORPHA:1686 Cardiac diverticulum
- OMIM:212093 Cardiac valvular defect, developmental
- OMIM:620067 Cardiac valvular dysplasia 2
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- ORPHA:2872 Cardiocranial syndrome, Pfeiffer type
- ORPHA:97292 Cardiogenic shock
- OMIM:612877 Cardiomyopathy, dilated, 1BB
- OMIM:613642 Cardiomyopathy, dilated, 1GG
- OMIM:613426 Cardiomyopathy, dilated, 1S
- OMIM:618189 Cardiomyopathy, dilated, 2C
- OMIM:619371 Cardiomyopathy, dilated, 2D
- OMIM:608758 Cardiomyopathy, familial hypertrophic, 10
- OMIM:612098 Cardiomyopathy, familial hypertrophic, 11
- OMIM:613243 Cardiomyopathy, familial hypertrophic, 13
- OMIM:613255 Cardiomyopathy, familial hypertrophic, 15
- OMIM:613838 Cardiomyopathy, familial hypertrophic, 16
- OMIM:613873 Cardiomyopathy, familial hypertrophic, 17
- OMIM:115195 Cardiomyopathy, familial hypertrophic, 2
- OMIM:115197 Cardiomyopathy, familial hypertrophic, 4
- OMIM:608751 Cardiomyopathy, familial hypertrophic, 8
- ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome
- ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome
- OMIM:606842 Cardioneuromyopathy with hyaline masses and nemaline rods
- ORPHA:1358 Carey-Fineman-Ziter syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- ORPHA:1359 Carney complex
- ORPHA:139411 Carney triad
- OMIM:212140 Carnitine deficiency, systemic primary
- ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form
- ORPHA:157 Carnitine palmitoyltransferase II deficiency
- OMIM:600649 Carnitine palmitoyltransferase II deficiency, infantile
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:212138 Carnitine-acylcarnitine translocase deficiency
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- OMIM:115470 Cat eye syndrome
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- OMIM:618761 Catifa syndrome
- ORPHA:3027 Caudal regression syndrome
- OMIM:608957 Cd8 deficiency, familial
- ORPHA:505652 CDKL5-deficiency disorder
- ORPHA:3258 Cenani-Lenz syndrome
- ORPHA:597 Central core disease
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- OMIM:619483 Central hypoventilation syndrome, congenital, 3
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- OMIM:616875 Cerebellar atrophy, visual impairment, and psychomotor retardation
- ORPHA:444072 Cerebellar-facial-dental syndrome
- OMIM:616202 Cerebellofaciodental syndrome
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM:300864 Cerebral-Cerebellar-Coloboma syndrome, X-linked
- ORPHA:1393 Cerebrocostomandibular syndrome
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:314679 Cerebrofacioarticular syndrome
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- ORPHA:1401 CHAND syndrome
- ORPHA:90658 Charcot-Marie-Tooth disease type 1E
- ORPHA:99948 Charcot-Marie-Tooth disease type 4A
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism
- OMIM:617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
- OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH
- OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R
- OMIM:607736 Charcot-Marie-Tooth disease, type 2J
- ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- ORPHA:184 Cherubism
- OMIM:207950 Chiari malformation type II
- ORPHA:90280 Chilblain lupus
- ORPHA:64280 Childhood absence epilepsy
- ORPHA:171439 Childhood-onset nemaline myopathy
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:137914 Choanal atresia
- ORPHA:173 Cholera
- OMIM:211600 Cholestasis, progressive familial intrahepatic 1
- OMIM:617049 Cholestasis, progressive familial intrahepatic, 5
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:215045 Chondrodysplasia, Blomstrand type
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:616368 CHOPS syndrome
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- ORPHA:182 Chromomycosis
- OMIM:619148 Chromosome 13q33-q34 deletion syndrome
- OMIM:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:616898 Chromosome 15q14 deletion syndrome
- OMIM:616863 Chromosome 16p13.2 deletion syndrome
- OMIM:613458 Chromosome 16p13.3 duplication syndrome
- OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:619343 Chromosome 1p36 deletion syndrome, proximal
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion syndrome
- OMIM:151200 Chromosome 8q22.1 duplication syndrome
- OMIM:300578 Chromosome xp11.3 deletion syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- OMIM:300942 Chromosome Xq26.3 duplication syndrome
- ORPHA:133 Chronic beryllium disease
- ORPHA:529808 Chronic bilirubin encephalopathy
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:379 Chronic granulomatous disease
- OMIM:613960 Chronic granulomatous disease 3, autosomal recessive
- OMIM:618935 Chronic granulomatous disease 5, autosomal recessive
- OMIM:306400 Chronic granulomatous disease, X-linked
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:91359 Chronic pneumonitis of infancy
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- OMIM:215520 Ciliary dyskinesia due to transposition of ciliary microtubules
- OMIM:242670 Ciliary dyskinesia with defective radial spokes
- OMIM:244400 Ciliary dyskinesia, primary, 1
- OMIM:612518 Ciliary dyskinesia, primary, 10
- OMIM:612649 Ciliary dyskinesia, primary, 11
- 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:614679 Ciliary dyskinesia, primary, 17
- 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:615482 Ciliary dyskinesia, primary, 25
- OMIM:615500 Ciliary dyskinesia, primary, 26
- OMIM:615504 Ciliary dyskinesia, primary, 27
- OMIM:615505 Ciliary dyskinesia, primary, 28
- OMIM:615872 Ciliary dyskinesia, primary, 29
- 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:617091 Ciliary dyskinesia, primary, 34
- OMIM:617092 Ciliary dyskinesia, primary, 35
- 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:618300 Ciliary dyskinesia, primary, 40
- OMIM:618449 Ciliary dyskinesia, primary, 41
- OMIM:618695 Ciliary dyskinesia, primary, 42
- OMIM:618699 Ciliary dyskinesia, primary, 43
- OMIM:618781 Ciliary dyskinesia, primary, 44
- OMIM:618801 Ciliary dyskinesia, primary, 45
- OMIM:619436 Ciliary dyskinesia, primary, 46
- OMIM:619466 Ciliary dyskinesia, primary, 47, and lissencephaly
- OMIM:620032 Ciliary dyskinesia, primary, 48, without situs inversus
- OMIM:610852 Ciliary dyskinesia, primary, 6
- OMIM:611884 Ciliary dyskinesia, primary, 7
- OMIM:612444 Ciliary dyskinesia, primary, 9, with or without situs inversus
- OMIM:215550 Circumvallate placenta syndrome
- OMIM:215600 Cirrhosis, familial
- ORPHA:57777 Cirrhotic cardiomyopathy
- ORPHA:247525 Citrullinemia type I
- ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:394 Classic homocystinuria
- ORPHA:324604 Classic multiminicore myopathy
- ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration
- OMIM:215800 Cleft larynx, posteriorstridor, congenital, included
- ORPHA:141291 Cleft lip and alveolus
- ORPHA:1991 Cleft lip with or without cleft palate
- ORPHA:3253 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:619074 Cleft palate, proliferative retinopathy, and developmental delay
- ORPHA:99772 Cleft velum
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- OMIM:119915 Cluster headache, familial
- ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy
- OMIM:619111 Coach syndrome 2
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- ORPHA:1458 CODAS syndrome
- OMIM:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:616276 Coenzyme Q10 deficiency, primary, 7
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- ORPHA:192 Coffin-Lowry syndrome
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:618506 Coffin-Siris syndrome 10
- ORPHA:263508 COG1-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- OMIM:216550 Cohen syndrome
- ORPHA:31824 Colchicine poisoning
- OMIM:233650 Combined cellular and humoral immune defects with granulomas
- OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria
- 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:231154 Combined immunodeficiency due to partial RAG1 deficiency
- ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- OMIM:312863 Combined immunodeficiency, X-linked
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- ORPHA:444013 Combined oxidative phosphorylation defect type 23
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- OMIM:616045 Combined oxidative phosphorylation deficiency 22
- OMIM:616794 Combined oxidative phosphorylation deficiency 28
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:617664 Combined oxidative phosphorylation deficiency 32
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618378 Combined oxidative phosphorylation deficiency 38
- OMIM:610678 Combined oxidative phosphorylation deficiency 4
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:300816 Combined oxidative phosphorylation deficiency 6
- OMIM:614096 Combined oxidative phosphorylation deficiency 8
- OMIM:614582 Combined oxidative phosphorylation deficiency 9
- ORPHA:1572 Common variable immunodeficiency
- OMIM:613779 Complement component 3 deficiency, autosomal recessive
- OMIM:614379 Complement component 4B deficiency
- OMIM:216950 Complement component c1r deficiency
- OMIM:615561 Complement factor B deficiency
- OMIM:610984 Complement factor I deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:294975 Congenital absence of upper arm and forearm with hand present
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- ORPHA:86816 Congenital analbuminemia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- ORPHA:3093 Congenital aortic valve stenosis
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay
- ORPHA:2140 Congenital diaphragmatic hernia
- OMIM:615273 Congenital disorder of deglycosylation 1
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:618324 Congenital disorder of glycosylation with defective fucosylation 2
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- 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:603585 Congenital disorder of glycosylation, type IIf
- OMIM:613489 Congenital disorder of glycosylation, type IIj
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- OMIM:610768 Congenital disorder of glycosylation, type Im
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:615042 Congenital disorder of glycosylation, type Iu
- OMIM:615597 Congenital disorder of glycosylation, type Ix
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- ORPHA:292 Congenital enterovirus infection
- ORPHA:326 Congenital factor V deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:99095 Congenital Gerbode defect
- OMIM:617602 Congenital heart defects and skeletal malformations syndrome
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:613854 Congenital heart defects, multiple types, 6
- OMIM:618780 Congenital heart defects, multiple types, 7
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- ORPHA:442 Congenital hypothyroidism
- ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:2374 Congenital laryngeal web
- ORPHA:2373 Congenital laryngomalacia
- ORPHA:1055 Congenital left ventricular aneurysm
- ORPHA:1954 Congenital lethal erythroderma
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- ORPHA:1928 Congenital lobar emphysema
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:370968 Congenital muscular dystrophy with intellectual disability
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:75840 Congenital muscular dystrophy, Ullrich type
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:424107 Congenital myopathy with myasthenic-like onset
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:2444 Congenital pulmonary airway malformation
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:3189 Congenital pulmonary valvar stenosis
- ORPHA:3188 Congenital pulmonary veins atresia or stenosis
- ORPHA:2040 Congenital respiratory-biliary fistula
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:95459 Congenital tricuspid stenosis
- ORPHA:555874 Congenital tricuspid valve dysplasia
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- ORPHA:2291 Congenital velopharyngeal incompetence
- ORPHA:216694 Congenitally corrected transposition of the great arteries
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- OMIM:217100 Constricting bands, congenital
- ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1488 Cooper-Jabs syndrome
- OMIM:121300 Coproporphyria
- OMIM:122470 Cornelia de Lange syndrome 1
- ORPHA:2041 Coronary arterial fistula
- 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:1389 Cortical blindness-intellectual disability-polydactyly syndrome
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:218040 Costello syndrome
- ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614099 Cranioectodermal dysplasia 3
- OMIM:614378 Cranioectodermal dysplasia 4
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- ORPHA:363705 Craniofaciofrontodigital syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- OMIM:269300 Craniometadiaphyseal dysplasia
- OMIM:123000 Craniometaphyseal dysplasia, autosomal dominant
- OMIM:218400 Craniometaphyseal dysplasia, autosomal recessive
- ORPHA:54595 Craniopharyngioma
- OMIM:218450 Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:1545 Crisponi syndrome
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- OMIM:617055 Crisponi/cold-Induced sweating syndrome 3
- ORPHA:1461 Criss-cross heart
- ORPHA:207 Crouzon syndrome
- OMIM:123500 Crouzon syndrome
- ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome
- ORPHA:1546 Cryptococcosis
- ORPHA:1302 Cryptogenic organizing pneumonia
- ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:79455 Cutaneous mastocytoma
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- OMIM:123700 Cutis laxa, autosomal dominant 1
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:617402 Cutis laxa, autosomal recessive, type IIC
- OMIM:617403 Cutis laxa, autosomal recessive, type IID
- OMIM:614100 Cutis laxa, neonatal, with marfanoid phenotype
- ORPHA:171719 Cutis laxa-Marfanoid syndrome
- OMIM:219400 Cyanosis and hepatic disease
- ORPHA:2686 Cyclic neutropenia
- OMIM:219600 Cystic disease of lung
- ORPHA:400 Cystic echinococcosis
- ORPHA:586 Cystic fibrosis
- OMIM:219700 Cystic fibrosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- ORPHA:2111 Cystic hamartoma of lung and kidney
- ORPHA:2437 Czeizel-Losonci syndrome
Disease code
Disease name
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:220120 D-glyceric aciduria
- ORPHA:2962 De Barsy syndrome
- OMIM:617992 Deafness, congenital heart defects, and posterior embryotoxon
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:3217 Deafness-small bowel diverticulosis-neuropathy syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3202 Dehydrated hereditary stomatocytosis
- OMIM:619083 Delpire-Mcneill syndrome
- ORPHA:99828 Dengue fever
- OMIM:194080 Denys-Drash syndrome
- OMIM:603165 Dermatitis, atopic
- ORPHA:221 Dermatomyositis
- OMIM:251450 Desbuquois dysplasia 1
- OMIM:615777 Desbuquois dysplasia 2
- ORPHA:98909 Desminopathy
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619814 Developmental and epileptic encephalopathy 101
- OMIM:300672 Developmental and epileptic encephalopathy 2
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:619340 Developmental and epileptic encephalopathy 96
- OMIM:619605 Developmental and epileptic encephalopathy 98
- OMIM:619606 Developmental and epileptic encephalopathy 99
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- ORPHA:1666 Dextrocardia
- ORPHA:1926 Diabetic embryopathy
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:618313 Diamond-Blackfan anemia 20
- OMIM:612561 Diamond-Blackfan anemia 6
- ORPHA:66637 Diaphanospondylodysostosis
- OMIM:608022 Diaphanospondylodysostosis
- ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
- 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:619445 Diarrhea 12, with microvillus atrophy
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- ORPHA:1916 Diethylstilbestrol syndrome
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- OMIM:188400 Digeorge syndrome
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:399103 Distal nebulin myopathy
- ORPHA:18 Distal renal tubular acidosis
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1705 Distal trisomy 14q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:231226 Dominant beta-thalassemia
- ORPHA:79500 DOORS syndrome
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- OMIM:190685 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:231111 Drug-induced lupus erythematosus
- OMIM:607323 Duane-Radial ray syndrome
- ORPHA:235 Dubowitz syndrome
- OMIM:310200 Duchenne muscular dystrophy
- ORPHA:98896 Duchenne muscular dystrophy
- ORPHA:1203 Duodenal atresia
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:239 Dyggve-Melchior-Clausen disease
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- OMIM:305000 Dyskeratosis congenita, X-linked
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- OMIM:224300 DYSOSTEOSCLEROSIS
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:412217 Dystonia-aphonia syndrome
Disease code
Disease name
- ORPHA:2554 Ear-patella-short stature syndrome
- ORPHA:1935 Early myoclonic encephalopathy
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- ORPHA:1880 Ebstein malformation of the tricuspid valve
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- OMIM:612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
- OMIM:225050 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- OMIM:616029 Ectodermal dysplasia/short stature syndrome
- 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
- OMIM:130010 Ehlers-Danlos syndrome, classic type, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:97214 Eisenmenger syndrome
- ORPHA:289 Ellis Van Creveld syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:181350 Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- OMIM:612999 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- OMIM:130710 Emphysema, congenital lobar
- OMIM:130700 Emphysema, hereditary pulmonary
- ORPHA:83600 Encephalitis lethargica
- ORPHA:2396 Encephalocraniocutaneous lipomatosis
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- ORPHA:139406 Encephalopathy due to prosaposin deficiency
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:608033 Encephalopathy, acute, infection-induced, susceptibility to, 3
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:300673 Encephalopathy, neonatal severe, due to mecp2 mutations
- OMIM:617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- OMIM:131400 Eosinophilia, familial
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- ORPHA:251636 Ependymoma
- OMIM:618307 Epidermodysplasia verruciformis, susceptibility to, 4
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:617290 Epilepsy, early-onset, vitamin b6-dependent
- OMIM:266100 Epilepsy, pyridoxine-dependent
- OMIM:616341 Epileptic encephalopathy, early infantile, 30
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:617065 Epileptic encephalopathy, early infantile, 40
- OMIM:617933 Epileptic encephalopathy, early infantile, 61
- OMIM:618201 Epileptic encephalopathy, early infantile, 68
- OMIM:618328 Epileptic encephalopathy, early infantile, 71
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- ORPHA:37612 Episodic ataxia type 1
- ORPHA:35687 Erdheim-Chester disease
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:263400 Erythrocytosis, familial, 2
- OMIM:615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:1959 Evans syndrome
- ORPHA:466650 Exercise-induced malignant hyperthermia
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- ORPHA:494424 Extracranial carotid artery aneurysm
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Disease code
Disease name
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:619477 Facioscapulohumeral muscular dystrophy 3, digenic
- OMIM:134400 Factor V excess with spontaneous thrombosis
- ORPHA:306550 FADD-related immunodeficiency
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:229 Familial aortic dissection
- ORPHA:615 Familial atrial myxoma
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- ORPHA:217607 Familial dilated cardiomyopathy
- ORPHA:1764 Familial dysautonomia
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:1677 Familial idiopathic dilatation of the right atrium
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:342 Familial Mediterranean fever
- OMIM:134610 Familial Mediterranean fever, AD
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:276399 Familial multinodular goiter
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:922 Familial nasal acilia
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:871 Familial progressive cardiac conduction defect
- ORPHA:2903 Familial spontaneous pneumothorax
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:618913 Fanconi renotubular syndrome 5
- OMIM:227850 Fanconi-Like syndrome
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- OMIM:228020 Fascial dystrophy, congenital
- OMIM:600072 Fatal familial insomnia
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:2492 FATCO syndrome
- ORPHA:163703 Febrile infection-related epilepsy syndrome
- OMIM:164280 Feingold syndrome 1
- ORPHA:47612 Felty syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- OMIM:613630 Fetal encasement syndrome
- ORPHA:93932 FG syndrome type 1
- ORPHA:2021 Fibrochondrogenesis
- ORPHA:337 Fibrodysplasia ossificans progressiva
- OMIM:135100 Fibrodysplasia ossificans progressiva
- OMIM:619329 Fibromuscular dysplasia, multifocal
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:249 Fibrous dysplasia of bone
- OMIM:228940 Fibuloulnar aplasia or hypoplasia with renal abnormalities
- OMIM:609524 Filaminopathy, autosomal dominant
- ORPHA:3092 Fixed subaortic stenosis
- ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:79097 Folinic acid-responsive seizures
- ORPHA:545 Follicular lymphoma
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- ORPHA:561854 FOXG1 syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- OMIM:617667 Fraser syndrome 3
- OMIM:229230 Fraser-Like syndrome
- ORPHA:834 Free sialic acid storage disease
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- ORPHA:391474 Frontorhiny
- OMIM:613954 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- OMIM:229700 Fructose-1,6-Bisphosphatase deficiency
- ORPHA:348 Fructose-1,6-bisphosphatase deficiency
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:228119 Fusariosis
Disease code
Disease name
- ORPHA:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- OMIM:137050 Gamma-A-Globulin, defect in assembly of
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:251992 Ganglioneuroma
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77260 Gaucher disease type 2
- ORPHA:77261 Gaucher disease type 3
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:230800 Gaucher disease, type I
- OMIM:230900 Gaucher disease, type II
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:231050 Geleophysic dysplasia 1
- OMIM:614185 Geleophysic dysplasia 2
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:231070 Geroderma osteodysplasticum
- ORPHA:397 Giant cell arteritis
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:358 Gitelman syndrome
- OMIM:612313 Glass syndrome
- OMIM:137763 Glaucoma - sleep apnea
- ORPHA:2085 Glaucoma-sleep apnea syndrome
- OMIM:616568 Glioma susceptibility 9
- 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:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:83454 Glomuvenous malformation
- OMIM:231630 Glutamate monosodium sensitivity
- OMIM:610015 Glutamine deficiency, congenital
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- ORPHA:407 Glycine encephalopathy
- 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
- ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:34587 Glycogen storage disease due to LAMP-2 deficiency
- ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- OMIM:232240 Glycogen storage disease Ic
- OMIM:232300 Glycogen storage disease II
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- ORPHA:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:272750 Gm2-Gangliosidosis, ab variant
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:2090 GMS syndrome
- ORPHA:169105 Good syndrome
- OMIM:233450 Goodpasture syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:39812 Graft versus host disease
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
- OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II
- OMIM:215140 Greenberg skeletal dysplasia
- ORPHA:97261 GRFoma
- ORPHA:79477 Griscelli syndrome type 2
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- OMIM:245590 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
Disease code
Disease name
- ORPHA:168569 H syndrome
- ORPHA:99803 Haddad syndrome
- OMIM:612946 Hadziselimovic syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:301068 Hardikar syndrome
- ORPHA:457 Harlequin ichthyosis
- ORPHA:2117 Hartsfield syndrome
- ORPHA:1354 Heart defects-limb shortening syndrome
- ORPHA:2119 HEC syndrome
- ORPHA:244242 HELLP syndrome
- OMIM:614034 Heme oxygenase-1 deficiency
- ORPHA:306741 Hemidystonia-hemiatrophy syndrome
- OMIM:164210 Hemifacial microsomia
- ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome
- OMIM:235200 Hemochromatosis, type 1
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:235500 Hemosiderosis, pulmonary, with deficiency of gamma-A globulin
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:3325 Heparin-induced thrombocytopenia
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:890 Hepatic veno-occlusive disease
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:621 Hereditary methemoglobinemia
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:178464 Hereditary myopathy with early respiratory failure
- ORPHA:640 Hereditary neuropathy with liability to pressure palsies
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- ORPHA:36386 Hereditary sensory and autonomic neuropathy type 1
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:614073 Hermansky-Pudlak syndrome 4
- OMIM:614075 Hermansky-Pudlak syndrome 6
- ORPHA:1930 Herpes simplex virus encephalitis
- 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:619702 Heterotaxy, visceral, 12, autosomal
- OMIM:613751 Heterotaxy, visceral, 4, autosomal
- OMIM:270100 Heterotaxy, visceral, 5
- OMIM:614779 Heterotaxy, visceral, 6, autosomal
- OMIM:616749 Heterotaxy, visceral, 7, autosomal
- OMIM:617205 Heterotaxy, visceral, 8, autosomal
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:235900 Histiocytosis, familial lipochrome
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:79242 Holocarboxylase synthetase deficiency
- OMIM:253270 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:392 Holt-Oram syndrome
- ORPHA:2167 Holzgreve syndrome
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:391665 Homozygous familial hypercholesterolemia
- ORPHA:228116 Hughes-Stovin syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:236640 Hydrocephalus with associated malformations
- ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- OMIM:613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- ORPHA:79155 Hydroxykynureninuria
- OMIM:237400 HYPER-BETA-ALANINEMIA
- OMIM:147060 Hyper-IgE recurrent infection syndrome
- OMIM:618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
- OMIM:618944 Hyper-IgE recurrent infection syndrome 5, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- OMIM:615751 Hyperammonemia due to carbonic anhydrase VA deficiency
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:149400 Hyperekplexia 1
- OMIM:614618 Hyperekplexia 3
- OMIM:618011 Hyperekplexia 4
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures
- ORPHA:682 Hyperkalemic periodic paralysis
- ORPHA:2203 Hyperlysinemia
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:618188 Hyperparathyroidism, transient neonatal
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- OMIM:145300 Hypersensitivity pneumonitis, familial
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:240200 Hypoadrenocorticism, familial
- OMIM:601198 Hypocalcemia, autosomal dominant 1
- ORPHA:429 Hypochondroplasia
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- OMIM:612776 Hypoglossia with situs inversus
- ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- ORPHA:238468 Hypohidrotic ectodermal dysplasia
- ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- ORPHA:681 Hypokalemic periodic paralysis
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- ORPHA:2680 Hypomyelination neuropathy-arthrogryposis syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:722 Hypoplasminogenemia
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
Disease code
Disease name
- ORPHA:254509 Iatrogenic botulism
- ORPHA:2268 ICF syndrome
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:608649 Ichthyosis prematurity syndrome
- OMIM:146700 Ichthyosis vulgaris
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- ORPHA:88621 Ichthyosis-prematurity syndrome
- ORPHA:930 Idiopathic achalasia
- ORPHA:724 Idiopathic acute eosinophilic pneumonia
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:45452 Idiopathic neonatal atrial flutter
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- ORPHA:2032 Idiopathic pulmonary fibrosis
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- ORPHA:422 Idiopathic/heritable pulmonary arterial hypertension
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- OMIM:147050 Ige responsiveness, atopic
- ORPHA:449400 IgG4-related aortitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:449432 IgG4-related submandibular gland disease
- ORPHA:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- OMIM:242700 Immune defect due to absence of thymus
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:301082 Immunodeficiency 102
- OMIM:617638 Immunodeficiency 11B with atopic dermatitis
- OMIM:615518 Immunodeficiency 13
- OMIM:615513 Immunodeficiency 14
- OMIM:619281 Immunodeficiency 14B, autosomal recessive
- OMIM:618204 Immunodeficiency 15A
- OMIM:615607 Immunodeficiency 17
- OMIM:615615 Immunodeficiency 18
- OMIM:615617 Immunodeficiency 19
- OMIM:615707 Immunodeficiency 20
- OMIM:615758 Immunodeficiency 22
- OMIM:615816 Immunodeficiency 23
- OMIM:615897 Immunodeficiency 24
- OMIM:610163 Immunodeficiency 25
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:209950 Immunodeficiency 27A, mycobacteriosis, AR
- OMIM:614162 Immunodeficiency 31C
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:611521 Immunodeficiency 35
- OMIM:616005 Immunodeficiency 36
- OMIM:616433 Immunodeficiency 40
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:241600 Immunodeficiency 43
- OMIM:616740 Immunodeficiency 46
- OMIM:269840 Immunodeficiency 48
- OMIM:617237 Immunodeficiency 49
- OMIM:300988 Immunodeficiency 50
- OMIM:613953 Immunodeficiency 51
- OMIM:617514 Immunodeficiency 52
- OMIM:617585 Immunodeficiency 53
- OMIM:609981 Immunodeficiency 54
- OMIM:615207 Immunodeficiency 56
- OMIM:618108 Immunodeficiency 57
- OMIM:618131 Immunodeficiency 58
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:618394 Immunodeficiency 60
- OMIM:300310 Immunodeficiency 61
- OMIM:618459 Immunodeficiency 62
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:618534 Immunodeficiency 64
- OMIM:618648 Immunodeficiency 65, susceptibility to viral infections
- OMIM:618969 Immunodeficiency 70
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:618982 Immunodeficiency 72 with autoinflammation
- OMIM:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- OMIM:618987 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
- OMIM:619126 Immunodeficiency 75
- OMIM:619164 Immunodeficiency 76
- OMIM:619223 Immunodeficiency 77
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:619238 Immunodeficiency 79
- OMIM:615401 Immunodeficiency 8
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619510 Immunodeficiency 85 and autoimmunity
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:619630 Immunodeficiency 88
- OMIM:619632 Immunodeficiency 89 and autoimmunity
- OMIM:612782 Immunodeficiency 9
- OMIM:619644 Immunodeficiency 91 and hyperinflammation
- OMIM:619652 Immunodeficiency 92
- OMIM:619705 Immunodeficiency 93 and hypertrophic cardiomyopathy
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619773 Immunodeficiency 95
- OMIM:619774 Immunodeficiency 96
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:619846 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:610798 Immunodeficiency due to defect in mapbp-interacting protein
- OMIM:613860 Immunodeficiency due to ficolin 3 deficiency
- ORPHA:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- OMIM:608106 Immunodeficiency with hyper IgM, type 5
- OMIM:605258 Immunodeficiency with hyper-igm, type 2
- OMIM:608184 Immunodeficiency with hyper-IgM, type 4
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:616576 Immunodeficiency, common variable, 12
- OMIM:617765 Immunodeficiency, common variable, 14
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:613493 Immunodeficiency, common variable, 3
- OMIM:613494 Immunodeficiency, common variable, 4
- OMIM:613495 Immunodeficiency, common variable, 5
- OMIM:613496 Immunodeficiency, common variable, 6
- OMIM:614699 Immunodeficiency, common variable, 7
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:617744 Immunodeficiency, developmental delay, and hypohomocysteinemia
- OMIM:611926 Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
- OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM
- OMIM:300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- OMIM:242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- OMIM:137100 Immunoglobulin A deficiency 1
- OMIM:609529 Immunoglobulin A deficiency 2
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:614102 Immunoglobulin kappa light chain deficiency
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- ORPHA:464 Incontinentia pigmenti
- ORPHA:1909 Indomethacin embryofetopathy
- ORPHA:70587 Infant acute respiratory distress syndrome
- ORPHA:178478 Infant botulism
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:35069 Infantile neuroaxonal dystrophy
- ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia
- ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
- OMIM:612567 Inflammatory bowel disease 25, early onset, autosomal recessive
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- OMIM:616069 Inflammatory skin and bowel disease, neonatal, 2
- ORPHA:247257 Inhalational anthrax
- ORPHA:254504 Inhalational botulism
- ORPHA:2298 Insulin-resistance syndrome type B
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:619099 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- OMIM:243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
- ORPHA:171433 Intermediate nemaline myopathy
- OMIM:615486 Interstitial lung and liver disease
- OMIM:619611 Interstitial lung disease 1
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- ORPHA:178481 Intestinal botulism
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:1134 Isolated arrhinia
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:718 Isolated Pierre Robin syndrome
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:439 Isolated right ventricular hypoplasia
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:2306 Isotretinoin-like syndrome
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
Disease code
Disease name
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:79139 Japanese encephalitis
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:474 Jeune syndrome
- ORPHA:475 Joubert syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:614615 Joubert syndrome 17
- OMIM:608091 Joubert syndrome 2
- OMIM:614970 Joubert syndrome 20
- OMIM:615636 Joubert syndrome 21
- OMIM:616490 Joubert syndrome 23
- OMIM:616784 Joubert syndrome 26
- OMIM:608629 Joubert syndrome 3
- OMIM:617622 Joubert syndrome 30
- OMIM:617767 Joubert syndrome 33
- OMIM:618161 Joubert syndrome 35
- OMIM:619562 Joubert syndrome 39
- OMIM:610188 Joubert syndrome 5
- OMIM:610688 Joubert syndrome 6
- OMIM:611560 Joubert syndrome 7
- OMIM:612291 Joubert syndrome 8
- OMIM:612285 Joubert syndrome 9
- 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:79405 Junctional epidermolysis bullosa inversa
- ORPHA:2321 Jung syndrome
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:92 Juvenile idiopathic arthritis
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA:93399 Juvenile sialidosis type 2
- ORPHA:158000 Juvenile xanthogranuloma
Disease code
Disease name
- OMIM:147920 Kabuki syndrome 1
- ORPHA:254519 Kagami-Ogata syndrome
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- ORPHA:2330 Kasabach-Merritt syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- ORPHA:439218 KCNQ2-related epileptic encephalopathy
- ORPHA:435628 Keppen-Lubinsky syndrome
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- ORPHA:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:619297 KINSSHIP syndrome
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:156550 Kniest dysplasia
- ORPHA:485 Kniest dysplasia
- OMIM:618458 Knobloch syndrome 2
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- OMIM:611722 Krabbe disease, atypical, due to saposin A deficiency
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Disease code
Disease name
- OMIM:149700 Lacrimal duct defect
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- ORPHA:501 Lafora disease
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- ORPHA:313 Lamellar ichthyosis
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- OMIM:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- OMIM:245650 Larsen-like syndrome, Lethal type
- OMIM:308850 Laryngeal abductor paralysis
- OMIM:150260 Laryngeal abductor paralysis
- ORPHA:2808 Laryngeal abductor paralysis
- ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome
- ORPHA:100083 Laryngeal neuroendocrine tumor
- OMIM:150360 Laryngeal web, familial
- OMIM:150280 LARYNGOMALACIA
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:2004 Laryngotracheoesophageal cleft
- ORPHA:93941 Laryngotracheoesophageal cleft type 4
- ORPHA:1202 Larynx atresia
- OMIM:150300 Larynx, congenital partial atresia of
- ORPHA:99824 Lassa fever
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:99094 Laubry-Pezzi syndrome
- ORPHA:330015 Lead poisoning
- OMIM:615396 Left ventricular noncompaction 10
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- OMIM:256000 Leigh syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- OMIM:220111 Leigh syndrome, french Canadian type
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- ORPHA:548 Leprosy
- OMIM:614962 Leptin deficiency or dysfunction
- OMIM:614963 Leptin receptor deficiency
- ORPHA:509 Leptospirosis
- OMIM:619149 Lessel-Kreienkamp syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:253310 Lethal congenital contracture syndrome 1
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:617194 Lethal congenital contracture syndrome 11
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:611369 Lethal congenital contracture syndrome 3
- OMIM:614915 Lethal congenital contracture syndrome 4
- OMIM:615368 Lethal congenital contracture syndrome 5
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:254857 Lethal infantile mitochondrial myopathy
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- ORPHA:1423 Lethal recessive chondrodysplasia
- OMIM:246400 Letterer-Siwe disease
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:617899 Leukodystrophy, hypomyelinating, 14
- OMIM:612233 Leukodystrophy, hypomyelinating, 4
- OMIM:619661 Leukoencephalopathy, hereditary diffuse, with spheroids 2
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- OMIM:618729 Liang-Wang syndrome
- ORPHA:220402 Limited cutaneous systemic sclerosis
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- OMIM:255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:606721 Lipodystrophy, familial partial, type 7
- ORPHA:530 Lipoid proteinosis
- OMIM:616299 Lipoyltransferase 1 deficiency
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- ORPHA:533 Listeriosis
- OMIM:619991 Liver disease, severe congenital
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:90289 Localized scleroderma
- ORPHA:2406 Locked-in syndrome
- ORPHA:75566 Loeffler endocarditis
- OMIM:609192 Loeys-Dietz syndrome 1
- OMIM:610168 Loeys-Dietz syndrome 2
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:613485 Long QT syndrome 13
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- OMIM:226960 Lowry-Wood syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- OMIM:601612 Lung agenesis, congenital heart defects, and thumb anomalies syndrome
- ORPHA:1120 Lung agenesis-heart defect-thumb anomalies syndrome
- OMIM:211980 Lung cancer, susceptibility to
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:620014 Lymphatic malformation 12
- OMIM:617300 Lymphatic malformation 7
- OMIM:618773 Lymphatic malformation 8
- OMIM:152900 Lymphedema and cerebral arteriovenous anomaly
- OMIM:616843 Lymphedema, hereditary, III
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- OMIM:247610 Lymphoid interstitial pneumonia
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:247800 Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis
- OMIM:613011 Lymphoproliferative syndrome 1
- OMIM:615122 Lymphoproliferative syndrome 2
- OMIM:308240 Lymphoproliferative syndrome, X-linked, 1
- OMIM:300635 Lymphoproliferative syndrome, X-linked, 2
- ORPHA:470 Lysinuric protein intolerance
- OMIM:222700 Lysinuric protein intolerance
- ORPHA:275761 Lysosomal acid lipase deficiency
Disease code
Disease name
- OMIM:606369 Macrocephaly and epileptic encephalopathy
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:248110 Macrosomia with microphthalmia, lethal
- ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:556 Malakoplakia
- ORPHA:673 Malaria
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- OMIM:601887 Malignant hyperthermia, susceptibility to, 5
- ORPHA:168811 Malignant peritoneal mesothelioma
- OMIM:248360 Malonyl-CoA decarboxylase deficiency
- ORPHA:52417 MALT lymphoma
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:511 Maple syrup urine disease
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- OMIM:248700 Marden-Walker syndrome
- OMIM:154700 Marfan syndrome
- ORPHA:558 Marfan syndrome
- OMIM:609008 Marfanoid habitus with situs inversus
- ORPHA:560 Marshall syndrome
- OMIM:154780 Marshall syndrome
- OMIM:602535 Marshall-Smith syndrome
- OMIM:601346 Martinez-Frias syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:613791 Masp2 deficiency
- ORPHA:98292 Mastocytosis
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:2470 Matthew-Wood syndrome
- OMIM:236700 Mckusick-Kaufman syndrome
- ORPHA:3097 Meacham syndrome
- OMIM:608978 Meacham syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:619879 Meckel syndrome 14
- OMIM:612284 Meckel syndrome, type 6
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:1332 Medullary thyroid carcinoma
- ORPHA:616 Medulloblastoma
- OMIM:300989 Meester-Loeys syndrome
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- 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:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- ORPHA:90186 Meige disease
- ORPHA:550 MELAS
- ORPHA:31202 Melioidosis
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:616158 Mental retardation, autosomal dominant 31
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:300919 Mental retardation, X-linked 99
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- ORPHA:330021 Mercury poisoning
- ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- OMIM:250230 Metaphyseal chondrodysplasia, Kaitila type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type
- ORPHA:2635 Metatropic dysplasia
- OMIM:156530 Metatropic dysplasia
- OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase
- ORPHA:1923 Methimazole embryofetopathy
- OMIM:250900 Methionine malabsorption syndrome
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- OMIM:251000 Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- OMIM:251100 Methylmalonic aciduria, Cbla type
- OMIM:251110 Methylmalonic aciduria, vitamin B12-responsive, cblB type
- ORPHA:79329 MGAT2-CDG
- 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
- ORPHA:319675 Microcephalic primordial dwarfism, Dauber type
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- OMIM:156700 Microcornea, glaucoma, and absent frontal sinuses
- ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:2538 Microgastria-limb reduction defect syndrome
- OMIM:156810 Microgastria-Limb reduction defects association
- ORPHA:1083 Microlissencephaly
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:615524 Microphthalmia, syndromic 12
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:617053 Mirage syndrome
- OMIM:618960 Mitchell syndrome
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618233 Mitochondrial complex I deficiency, nuclear type 10
- OMIM:618235 Mitochondrial complex I deficiency, nuclear type 13
- OMIM:618236 Mitochondrial complex I deficiency, nuclear type 14
- OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18
- OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:618243 Mitochondrial complex I deficiency, nuclear type 22
- OMIM:618247 Mitochondrial complex I deficiency, nuclear type 26
- OMIM:618224 Mitochondrial complex I deficiency, nuclear type 3
- OMIM:301021 Mitochondrial complex I deficiency, nuclear type 30
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618252 Mitochondrial complex I deficiency, nuclear type 32
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:618776 Mitochondrial complex I deficiency, nuclear type 34
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:618225 Mitochondrial complex I deficiency, nuclear type 4
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5
- OMIM:618228 Mitochondrial complex I deficiency, nuclear type 6
- OMIM:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:618232 Mitochondrial complex I deficiency, nuclear type 9
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:615160 Mitochondrial complex III deficiency, nuclear type 5
- OMIM:615838 Mitochondrial complex III deficiency, nuclear type 8
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619053 Mitochondrial complex IV deficiency, nuclear type 10
- OMIM:616501 Mitochondrial complex IV deficiency, nuclear type 13
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619062 Mitochondrial complex IV deficiency, nuclear type 18
- OMIM:619063 Mitochondrial complex IV deficiency, nuclear type 19
- OMIM:604377 Mitochondrial complex IV deficiency, nuclear type 2
- OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 20
- OMIM:619048 Mitochondrial complex IV deficiency, nuclear type 4
- OMIM:619051 Mitochondrial complex IV deficiency, nuclear type 7
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:615228 Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
- OMIM:617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- OMIM:612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- OMIM:245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type 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
- ORPHA:663 Mitochondrial DNA-related progressive external ophthalmoplegia
- ORPHA:289560 Mitochondrial membrane protein-associated neurodegeneration
- ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- OMIM:500009 Mitochondrial myopathy, infantile, transient
- OMIM:610773 Mitochondrial phosphate carrier deficiency
- OMIM:614741 Mitochondrial pyruvate carrier deficiency
- OMIM:616277 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:746 Mitochondrial trifunctional protein deficiency
- ORPHA:809 Mixed connective tissue disease
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:45448 Miyoshi myopathy
- OMIM:157900 Moebius syndrome
- ORPHA:79330 MOGS-CDG
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:614114 Mosaic variegated aneuploidy syndrome 2
- ORPHA:3347 Mounier-Kühn syndrome
- 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:79323 MPDU1-CDG
- ORPHA:575 Muckle-Wells syndrome
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- ORPHA:576 Mucolipidosis type II
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- OMIM:253240 Mucus inspissation of respiratory tract
- ORPHA:587 Muir-Torre syndrome
- OMIM:158320 Muir-Torre syndrome
- OMIM:253250 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- ORPHA:598 Multiminicore myopathy
- 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: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:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- ORPHA:653 Multiple endocrine neoplasia type 2
- OMIM:605711 Multiple mitochondrial dysfunctions syndrome 1
- OMIM:614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- ORPHA:29073 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:102 Multiple system atrophy
- ORPHA:227510 Multiple system atrophy, cerebellar type
- ORPHA:98933 Multiple system atrophy, parkinsonian type
- OMIM:613834 Multisystemic smooth muscle dysfunction syndrome
- OMIM:158650 Muscular atrophy, malignant neurogenic
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:604801 Muscular dystrophy, congenital, 1B
- OMIM:617066 Muscular dystrophy, congenital, Davignon-Chauveau type
- OMIM:613205 Muscular dystrophy, congenital, lmna-related
- OMIM:607855 Muscular dystrophy, congenital, merosin deficient or partially deficient
- OMIM:609456 Muscular dystrophy, congenital, merosin-positive
- OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability
- OMIM:608423 Muscular dystrophy, limb-girdle, autosomal dominant 2
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:253700 Muscular dystrophy, limb-girdle, type 2C
- OMIM:617072 Muscular dystrophy, limb-girdle, type 2Y
- OMIM:617232 Muscular dystrophy, limb-girdle, type 2Z
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
- OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- OMIM:616052 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
- OMIM:254120 Muscular hypertonia, lethal
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan
- ORPHA:589 Myasthenia gravis
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:614198 Myasthenic syndrome, congenital, 16
- OMIM:616330 Myasthenic syndrome, congenital, 18
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:601462 Myasthenic syndrome, congenital, 1A, slow-channel
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:617143 Myasthenic syndrome, congenital, 20, presynaptic
- OMIM:617239 Myasthenic syndrome, congenital, 21, presynaptic
- OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic
- OMIM:616314 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
- OMIM:616321 Myasthenic syndrome, congenital, 3A, slow-channel
- OMIM:616322 Myasthenic syndrome, congenital, 3B, fast-channel
- OMIM:616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
- OMIM:605809 Myasthenic syndrome, congenital, 4A, slow-channel
- OMIM:616324 Myasthenic syndrome, congenital, 4B, fast-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:254210 Myasthenic syndrome, congenital, 6, presynaptic
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- OMIM:615120 Myasthenic syndrome, congenital, 8
- OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
- ORPHA:268249 Mycophenolate mofetil embryopathy
- OMIM:616871 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
- ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy
- OMIM:139210 Myhre syndrome
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:617235 Myoclonus, intractable, neonatal
- OMIM:619178 Myofibrillar myopathy 11
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:615959 Myopathy, centronuclear, 5
- OMIM:617760 Myopathy, centronuclear, 6, with fiber-type disproportion
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:618823 Myopathy, congenital proximal, with minicore lesions
- OMIM:618654 Myopathy, congenital with structured cores and Z-line abnormalities
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:618822 Myopathy, congenital, with respiratory insufficiency and bone fractures
- OMIM:301075 Myopathy, distal, 7, adult-onset, X-linked
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
- OMIM:601419 Myopathy, myofibrillar, 1
- OMIM:619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- OMIM:608810 Myopathy, myofibrillar, 2, mfm2
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:603689 Myopathy, myofibrillar, 9, with early respiratory failure
- OMIM:613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
- OMIM:608358 Myopathy, myosin storage, autosomal dominant
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:300718 Myopathy, reducing body, X-linked, childhood-onset
- OMIM:300717 Myopathy, reducing body, X-linked, early-onset, severe
- OMIM:160565 Myopathy, tubular aggregate, 1
- OMIM:310440 Myopathy, X-linked, with excessive autophagy
- OMIM:300696 Myopathy, X-linked, with postural muscle atrophy
- OMIM:255600 Myosclerosis, autosomal recessive
- ORPHA:99734 Myotonia fluctuans
- ORPHA:99735 Myotonia permanens
- OMIM:608390 Myotonia, potassium-aggravated
- OMIM:300219 Myotubular myopathy with abnormal genital development
Disease code
Disease name
- OMIM:237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- ORPHA:245 Nager syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:607107 Nasopharyngeal carcinoma
- OMIM:617075 Nasopharyngeal carcinoma, susceptibility to, 3
- ORPHA:168572 Native American myopathy
- ORPHA:391673 Necrotizing enterocolitis
- ORPHA:199244 Nelson syndrome
- OMIM:609284 Nemaline myopathy 1
- OMIM:616165 Nemaline myopathy 10
- OMIM:617336 Nemaline myopathy 11, autosomal recessive
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:609285 Nemaline myopathy 4
- OMIM:605355 Nemaline myopathy 5, Amish type
- OMIM:610687 Nemaline myopathy 7
- OMIM:615348 Nemaline myopathy 8
- OMIM:615731 Nemaline myopathy 9
- ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:654 Nephroblastoma
- OMIM:602088 Nephronophthisis 2
- OMIM:619468 Nephronophthisis-like nephropathy 2
- OMIM:256300 Nephrotic syndrome, type 1
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- ORPHA:2901 Neuralgic amyotrophy
- OMIM:256700 Neuroblastoma, susceptibility to
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 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:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:619971 Neurodevelopmental disorder with epilepsy and brain atrophy
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- 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:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- 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:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- OMIM:617903 Neurodevelopmental disorder with poor language and loss of hand skills
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- OMIM:618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
- 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:620114 Neurodevelopmental disorder with speech impairment and with or without seizures
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- 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:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- ORPHA:33445 Neuroectodermal melanolysosomal disease
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- ORPHA:252183 Neurofibroma
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- ORPHA:94093 Neuroleptic malignant syndrome
- ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- OMIM:620080 Neuronopathy, distal hereditary motor, type X
- OMIM:619539 Neuroocular syndrome
- OMIM:605253 Neuropathy, congenital hypomyelinating, 1, autosomal recessive
- OMIM:618184 Neuropathy, congenital hypomyelinating, 2
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:616022 Neutropenia, severe congenital, 6, autosomal recessive
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:646 Niemann-Pick disease type C
- OMIM:257200 Niemann-Pick disease, type A
- OMIM:607616 Niemann-pick disease, type B
- OMIM:607625 Niemann-pick disease, type C2
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- ORPHA:99825 Nipah virus disease
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:31204 Nocardiosis
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:611553 Noonan syndrome 5
- OMIM:615355 Noonan syndrome 8
- ORPHA:500 Noonan syndrome with multiple lentigines
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- ORPHA:3032 NPHP3-related Meckel-like syndrome
Disease code
Disease name
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- OMIM:257500 Obesity-Hypoventilation syndrome
- ORPHA:2714 Oculo-palato-cerebral syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:2712 Oculofaciocardiodental syndrome
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- OMIM:618637 Oculopharyngeal myopathy with leukoencephalopathy 1
- OMIM:164310 Oculopharyngodistal myopathy 1
- ORPHA:166272 Odontochondrodysplasia
- ORPHA:276432 Ogden syndrome
- OMIM:300855 Ogden syndrome
- ORPHA:2260 Oligomeganephronia
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:258315 Omodysplasia 1
- ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- ORPHA:2745 Opitz GBBB syndrome
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:258480 Opsismodysplasia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- ORPHA:357154 Oral submucous fibrosis
- OMIM:258865 Orofaciodigital syndrome IX
- ORPHA:434179 Orofaciodigital syndrome type 14
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:300484 Orofaciodigital syndrome VIII
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:617563 Orofaciodigital syndrome XVI
- ORPHA:93958 Oromandibular dystonia
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:184260 Osteochondrodysplasia
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski
- ORPHA:666 Osteogenesis imperfecta
- OMIM:166210 Osteogenesis imperfecta, type II
- OMIM:259420 Osteogenesis imperfecta, type III
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:613848 Osteogenesis imperfecta, type X
- OMIM:166250 Osteoglophonic dysplasia
- OMIM:619377 Osteootohepatoenteric syndrome
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:259720 Osteopetrosis, autosomal recessive 5
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- 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:215150 Otospondylomegaepiphyseal dysplasia
- ORPHA:314473 Ovarian fibroma
- ORPHA:314478 Ovarian fibrothecoma
- ORPHA:64739 Ovarian hyperstimulation syndrome
- ORPHA:206572 Overlap myositis
Disease code
Disease name
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:2309 Pachyonychia congenita
- ORPHA:991 PAGOD syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- OMIM:610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- OMIM:604809 Panbronchiolitis, diffuse
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- ORPHA:556955 Pancreatic agenesis-holoprosencephaly syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- OMIM:167800 Pancreatitis, hereditary
- ORPHA:66624 PANDAS
- ORPHA:678 Papillon-Lefèvre syndrome
- ORPHA:684 Paramyotonia congenita of Von Eulenburg
- OMIM:168300 Paramyotonia congenita of von eulenburg
- ORPHA:2812 Parana hard skin syndrome
- OMIM:260530 Parana hard-skin syndrome
- ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome
- OMIM:619738 Parkinsonism-dystonia 3, childhood-onset
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- OMIM:167400 Paroxysmal extreme pain disorder
- ORPHA:157835 Paroxysmal hemicrania
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:98810 Paroxysmal non-kinesigenic dyskinesia
- ORPHA:1330 Partial atrioventricular septal defect
- ORPHA:261911 Partial deletion of the short arm of chromosome 7
- ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- ORPHA:93126 Pauci-immune glomerulonephritis
- ORPHA:93552 Pediatric systemic lupus erythematosus
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:270300 Peeling skin syndrome 1
- ORPHA:2836 PEHO syndrome
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:312080 Pelizaeus-Merzbacher disease
- ORPHA:280210 Pelizaeus-Merzbacher disease, connatal form
- ORPHA:705 Pendred syndrome
- ORPHA:49 Penile agenesis
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:2847 Pericardial and diaphragmatic defect
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- OMIM:618124 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- ORPHA:2971 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:614883 Peroxisome biogenesis disorder 11A (Zellweger)
- OMIM:614885 Peroxisome biogenesis disorder 11B
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:614862 Peroxisome biogenesis disorder 4A (Zellweger)
- OMIM:168605 Perry syndrome
- ORPHA:178509 Perry syndrome
- ORPHA:709 Peters plus syndrome
- ORPHA:2869 Peutz-Jeghers syndrome
- ORPHA:42642 PFAPA syndrome
- OMIM:101600 Pfeiffer syndrome
- ORPHA:93259 Pfeiffer syndrome type 2
- ORPHA:93260 Pfeiffer syndrome type 3
- ORPHA:443811 PGM3-CDG
- ORPHA:2876 PHAVER syndrome
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- OMIM:610992 Phosphoserine aminotransferase deficiency
- OMIM:261800 Pierre Robin syndrome
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- OMIM:610042 Pitt-Hopkins-Like syndrome 1
- OMIM:614325 Pitt-Hopkins-Like syndrome 2
- ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts
- ORPHA:521426 PLAA-associated neurodevelopmental disorder
- ORPHA:439167 Placental insufficiency
- ORPHA:707 Plague
- OMIM:262850 Plasmin inhibitor deficiency
- OMIM:217090 Plasminogen deficiency, type I
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:50251 Pleural mesothelioma
- OMIM:601200 Pleuropulmonary blastoma
- ORPHA:79318 PMM2-CDG
- ORPHA:723 Pneumocystosis
- OMIM:173600 Pneumothorax, primary spontaneous
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- OMIM:615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- ORPHA:2912 Poliomyelitis
- ORPHA:767 Polyarteritis nodosa
- OMIM:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- OMIM:174050 Polycystic liver disease 1 with or without kidney cysts
- ORPHA:729 Polycythemia vera
- OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
- ORPHA:732 Polymyositis
- ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:99748 Pontiac fever
- OMIM:614688 Pontine tegmental cap dysplasia
- ORPHA:2254 Pontocerebellar hypoplasia type 1
- OMIM:607596 Pontocerebellar hypoplasia type 1A
- ORPHA:2524 Pontocerebellar hypoplasia type 2
- ORPHA:166063 Pontocerebellar hypoplasia type 4
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- OMIM:619909 Pontocerebellar hypoplasia, type 17
- OMIM:614678 Pontocerebellar hypoplasia, type 1B
- OMIM:616081 Pontocerebellar hypoplasia, type 1C
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:619303 Pontocerebellar hypoplasia, type 1E
- OMIM:225753 Pontocerebellar hypoplasia, type 4
- OMIM:611523 Pontocerebellar hypoplasia, type 6
- OMIM:614969 Pontocerebellar hypoplasia, type 7
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:612740 Porphyria, acute hepatic
- OMIM:176000 Porphyria, acute intermittent
- OMIM:619463 Portal hypertension, noncirrhotic, 2
- ORPHA:97349 Postencephalitic parkinsonism
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:2942 Postpoliomyelitis syndrome
- ORPHA:98913 Postsynaptic congenital myasthenic syndromes
- OMIM:610883 Potocki-Lupski syndrome
- OMIM:176270 Prader-Willi syndrome
- ORPHA:739 Prader-Willi syndrome
- ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion
- ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:398073 Prader-Willi-like syndrome
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:615474 Primary aldosteronism, seizures, and neurologic abnormalities
- ORPHA:2285 Primary basilar invagination
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:98805 Primary dystonia, DYT4 type
- ORPHA:48686 Primary effusion lymphoma
- ORPHA:90026 Primary erythromelalgia
- ORPHA:90042 Primary familial polycythemia
- ORPHA:3337 Primary Fanconi renotubular syndrome
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:2257 Primary pulmonary hypoplasia
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- ORPHA:141099 Proboscis lateralis
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- OMIM:616479 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- OMIM:615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- OMIM:113900 Progressive familial heart block, type IA
- ORPHA:352596 Progressive myoclonic epilepsy with dystonia
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240085 Progressive supranuclear palsy-parkinsonism syndrome
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- OMIM:606054 Propionic acidemia
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- ORPHA:744 Proteus syndrome
- ORPHA:2969 Proteus-like syndrome
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- ORPHA:2970 Prune belly syndrome
- ORPHA:544469 PRUNE1-related neurological syndrome
- OMIM:618886 Pseudo-Torch syndrome 3
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:26790 Pseudomyxoma peritonei
- OMIM:264480 Pseudotrisomy 13 syndrome
- OMIM:614501 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
- ORPHA:2997 Ptosis-vocal cord paralysis syndrome
- ORPHA:60025 Pulmonary alveolar microlithiasis
- OMIM:265100 Pulmonary alveolar microlithiasis
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- OMIM:610910 Pulmonary alveolar proteinosis, acquired
- ORPHA:2038 Pulmonary arteriovenous malformation
- OMIM:265150 Pulmonary atresia with intact ventricular septum
- OMIM:178370 Pulmonary atresia with ventricular septal defect
- ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome
- ORPHA:64741 Pulmonary blastoma
- OMIM:265200 Pulmonary bullae causing pneumothorax
- ORPHA:199241 Pulmonary capillary hemangiomatosis
- OMIM:606963 Pulmonary disease, chronic obstructive
- OMIM:178400 Pulmonary edema of mountaineers
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:614743 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
- OMIM:616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
- OMIM:616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
- OMIM:618674 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- OMIM:619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- OMIM:178550 Pulmonary hemosiderosis
- OMIM:178600 Pulmonary hypertension, primary, 1
- OMIM:615342 Pulmonary hypertension, primary, 2
- OMIM:615343 Pulmonary hypertension, primary, 3
- OMIM:615344 Pulmonary hypertension, primary, 4
- OMIM:265400 Pulmonary hypertension, primary, autosomal recessive
- OMIM:265430 Pulmonary hypoplasia, primary
- ORPHA:60026 Pulmonary nodular lymphoid hyperplasia
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- OMIM:265450 Pulmonary venoocclusive disease 1
- OMIM:234810 Pulmonary venoocclusive disease 2
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- ORPHA:763 Pycnodysostosis
- OMIM:265800 Pycnodysostosis
- OMIM:265900 Pyle disease
- ORPHA:3006 Pyridoxine-dependent epilepsy
- ORPHA:3008 Pyruvate carboxylase deficiency
- ORPHA:765 Pyruvate dehydrogenase deficiency
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency
Disease code
Disease name
Disease code
Disease name
- ORPHA:770 Rabies
- ORPHA:3015 Radio-renal syndrome
- OMIM:259775 Raine syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- ORPHA:1051 Ramos-Arroyo syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:31205 Rat-bite fever
- ORPHA:99852 Ravine syndrome
- ORPHA:29207 Reactive arthritis
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:96167 Recombinant 8 syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:60032 Recurrent respiratory papillomatosis
- ORPHA:98826 Refractory anemia
- ORPHA:86839 Refractory anemia with excess blasts
- ORPHA:773 Refsum disease
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:411709 Renal agenesis
- ORPHA:1848 Renal agenesis, bilateral
- OMIM:191830 Renal hypodysplasia/aplasia 1
- OMIM:615721 Renal hypodysplasia/aplasia 2
- OMIM:619887 Renal hypodysplasia/aplasia 4
- ORPHA:97362 Renal hypoplasia, bilateral
- OMIM:267430 Renal tubular dysgenesis
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- ORPHA:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema
- ORPHA:79127 Respiratory bronchiolitis-interstitial lung disease syndrome
- OMIM:267450 Respiratory distress syndrome in premature infants
- OMIM:618803 Respiratory papillomatosis, juvenile recurrent, congenital
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:619793 Restrictive dermopathy 2
- ORPHA:33355 Reticular dysgenesis
- OMIM:619446 Retinal dystrophy and microvillus inclusion disease
- OMIM:617175 Retinal dystrophy with or without extraocular anomalies
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:312612 Retinitis pigmentosa 6
- OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness
- ORPHA:778 Rett syndrome
- OMIM:312750 Rett syndrome
- OMIM:613454 Rett syndrome, congenital variant
- ORPHA:779 Reynolds syndrome
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:69077 Rhabdoid tumor
- OMIM:180295 Rhabdomyosarcoma, embryonal, 2
- ORPHA:3099 Rheumatic fever
- OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- OMIM:618821 Rhizomelic limb shortening with dysmorphic features
- ORPHA:59315 Rhombencephalosynapsis
- ORPHA:97229 Riboflavin transporter deficiency
- OMIM:611943 Riddle syndrome
- ORPHA:420741 RIDDLE syndrome
- OMIM:208530 Right atrial isomerism (Ivemark)
- OMIM:610338 Right pulmonary artery, anomalous origin of, familial
- OMIM:602771 Rigid spine muscular dystrophy 1
- ORPHA:97244 Rigid spine syndrome
- OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal
- ORPHA:1446 Ring chromosome 22 syndrome
- ORPHA:1448 Ring chromosome 6 syndrome
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- OMIM:616894 Robinow syndrome, autosomal dominant 3
- OMIM:268320 Rodrigues blindness
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:1945 Rolandic epilepsy
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- 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
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- ORPHA:794 Saethre-Chotzen syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- ORPHA:796 Sandhoff disease
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
- ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant
- OMIM:181405 Scapuloperoneal spinal muscular atrophy
- ORPHA:449280 Scedosporiosis
- OMIM:615547 Schaaf-Yang syndrome
- OMIM:607016 Scheie syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:63862 Schisis association
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- ORPHA:185 Scimitar syndrome
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- ORPHA:158029 Sea-blue histiocytosis
- OMIM:616777 Seckel syndrome 9
- ORPHA:90363 Secondary intestinal lymphangiectasia
- OMIM:601764 Seizures, benign familial infantile, 1
- OMIM:607745 Seizures, benign familial infantile, 3
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- OMIM:212350 Sengers syndrome
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:90051 Sepsis in premature infants
- ORPHA:3157 Septo-optic dysplasia spectrum
- ORPHA:139466 SERKAL syndrome
- ORPHA:43116 Serotonin syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- ORPHA:277 Severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
- ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency
- OMIM:602450 Severe combined immunodeficiency with sensitivity to ionizing radiation
- OMIM:102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- 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
- OMIM:300400 Severe combined immunodeficiency, X-linked
- ORPHA:171430 Severe congenital nemaline myopathy
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:745 Severe hereditary thrombophilia due to congenital protein C deficiency
- ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:363400 Severe neurodegenerative syndrome with lipodystrophy
- ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- ORPHA:238329 Severe X-linked mitochondrial encephalomyopathy
- ORPHA:3162 Sézary syndrome
- ORPHA:810 Shigellosis
- ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly
- OMIM:615633 Short-Rib thoracic dysplasia 11 with or without polydactyly
- 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:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- OMIM:182210 Shprintzen omphalocele syndrome
- OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome
- ORPHA:2462 Shprintzen-Goldberg syndrome
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- OMIM:617941 Shwachman-Diamond syndrome 2
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- OMIM:603903 Sickle cell anemia
- ORPHA:232 Sickle cell anemia
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:398079 SIM1-related Prader-Willi-like syndrome
- ORPHA:91139 Simple cryoglobulinemia
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- OMIM:182250 Singleton-Merten syndrome 1
- ORPHA:3169 Sirenomelia
- ORPHA:488437 SIX2-related frontonasal dysplasia
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- OMIM:618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- ORPHA:238459 SLC35A1-CDG
- ORPHA:356961 SLC35A2-CDG
- ORPHA:468699 SLC39A8-CDG
- OMIM:182280 Small cell cancer of the lung
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:97230 Solar urticaria
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- OMIM:147250 Solitary median maxillary central incisor
- ORPHA:314769 Somatomammotropinoma
- ORPHA:821 Sotos syndrome
- OMIM:615031 Spastic paraplegia 49, autosomal recessive
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- OMIM:617475 Specific granule deficiency 2
- OMIM:618433 Spermatogenic failure 38
- OMIM:616866 Spinal muscular atrophy with congenital bone fractures 1
- OMIM:616867 Spinal muscular atrophy with congenital bone fractures 2
- OMIM:159950 Spinal muscular atrophy with progressive myoclonic epilepsy
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:607088 Spinal muscular atrophy, distal, autosomal recessive, 3
- OMIM:611067 Spinal muscular atrophy, distal, autosomal recessive, 4
- OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6
- OMIM:619042 Spinal muscular atrophy, infantile, James type
- OMIM:615290 Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant
- OMIM:618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
- OMIM:271225 Spinal muscular atrophy, type I, with congenital bone fractures
- OMIM:301830 Spinal muscular atrophy, X-linked 2
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:272460 Spondylocarpotarsal synostosis syndrome
- OMIM:608681 Spondylocostal dysostosis 2, autosomal recessive
- OMIM:613686 Spondylocostal dysostosis 4, autosomal recessive
- OMIM:271520 Spondylocostal dysostosis with anal atresia and urogenital anomalies
- OMIM:277300 Spondylocostal dysostosis, autosomal recessive 1
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- ORPHA:93359 Spondyloepimetaphyseal dysplasia with joint laxity
- ORPHA:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations
- ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type
- OMIM:612813 Spondyloepimetaphyseal dysplasia, Aggrecan type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- ORPHA:94068 Spondyloepiphyseal dysplasia congenita
- OMIM:183900 Spondyloepiphyseal dysplasia congenita
- OMIM:600561 Spondyloepiphyseal dysplasia with atlantoaxial instability
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- OMIM:618618 Spondyloepiphyseal dysplasia, Nishimura type
- OMIM:611717 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- OMIM:271665 Spondylometaepiphyseal dysplasia, short Limb-Hand type
- OMIM:618961 Spondylometaphyseal dysplasia with corneal dystrophy
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- OMIM:613320 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
- ORPHA:93317 Spondylometaphyseal dysplasia, Sedaghatian type
- OMIM:313420 Spondylometaphyseal dysplasia, X-linked
- OMIM:601809 Spondylospinal thoracic dysostosis
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:204 Sporadic Creutzfeldt-Jakob disease
- ORPHA:225147 Sporadic infantile bilateral striatal necrosis
- ORPHA:424019 Squamous cell carcinoma of the anal canal
- ORPHA:99977 Squamous cell carcinoma of the esophagus
- ORPHA:36238 Staphylococcal necrotizing pneumonia
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- OMIM:611961 Stevenson-Carey syndrome
- ORPHA:828 Stickler syndrome
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- OMIM:617478 Structural heart defects and renal anomalies syndrome
- ORPHA:370924 STT3B-CDG
- ORPHA:3205 Sturge-Weber syndrome
- OMIM:601559 Stuve-Wiedemann syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- ORPHA:3206 Stüve-Wiedemann syndrome
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- ORPHA:251639 Subependymoma
- OMIM:600335 Succinic acidemia
- OMIM:245050 Succinyl CoA:3-oxoacid CoA transferase deficiency
- OMIM:272120 Sudden infant death syndrome
- OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome
- ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome
- OMIM:618950 Suleiman-El-Hattab syndrome
- ORPHA:57145 SUNCT syndrome
- ORPHA:141096 Supernumerary nostril
- OMIM:185500 Supravalvular aortic stenosis
- OMIM:265120 Surfactant metabolism dysfunction, pulmonary, 1
- OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2
- OMIM:610921 Surfactant metabolism dysfunction, pulmonary, 3
- OMIM:614370 Surfactant metabolism dysfunction, pulmonary, 5
- ORPHA:306731 Sydenham chorea
- ORPHA:1314 Symmetrical thalamic calcifications
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- ORPHA:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:188 Systemic capillary leak syndrome
- OMIM:152700 Systemic lupus erythematosus
- OMIM:609939 Systemic lupus erythematosus, susceptibility to, 6
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:90291 Systemic sclerosis
- ORPHA:85414 Systemic-onset juvenile idiopathic arthritis
Disease code
Disease name
- ORPHA:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
- ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency
- ORPHA:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- ORPHA:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency
- OMIM:618806 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
- ORPHA:3287 Takayasu arteritis
- ORPHA:66529 Tako-Tsubo cardiomyopathy
- ORPHA:2886 TARP syndrome
- ORPHA:845 Tay-Sachs disease
- OMIM:272800 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- OMIM:610655 Telangiectasia, hereditary hemorrhagic, type 4
- ORPHA:284227 TEMPI syndrome
- OMIM:616260 Tenorio syndrome
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- ORPHA:3299 Tetanus
- OMIM:618021 Tetraamelia syndrome 2
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- ORPHA:3305 Tetraploidy
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- ORPHA:1780 Thakker-Donnai syndrome
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:187600 Thanatophoric dysplasia, type I
- OMIM:187601 Thanatophoric dysplasia, type II
- OMIM:187750 Thoracic dysostosis, isolated
- OMIM:273730 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:1861 Thoracic dysplasia-hydrocephalus syndrome
- ORPHA:1759 Thoraco-abdominal enteric duplication
- OMIM:313850 Thoracoabdominal syndrome
- OMIM:187760 Thoracolaryngopelvic dysplasia
- OMIM:187770 Thoracopelvic dysostosis
- OMIM:301071 Thrombophilia 13, X-linked, due to factor VIII defect
- OMIM:612304 Thrombophilia due to protein C deficiency, autosomal recessive
- OMIM:614514 Thrombophilia due to protein S deficiency, autosomal recessive
- OMIM:614486 Thrombophilia due to thrombomodulin defect
- OMIM:176860 Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant
- OMIM:612336 Thrombophilia, hereditary, due to protein S deficiency, autosomal
- OMIM:188050 Thrombophiliavenous thromboembolism, included
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:99867 Thymoma
- OMIM:274230 Thymoma, familial
- ORPHA:97285 Thyroid lymphoma
- ORPHA:79102 Thyrotoxic periodic paralysis
- ORPHA:609 Tibial muscular dystrophy
- OMIM:601005 Timothy syndrome
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300707 Toe syndactyly, telecanthus, and anogenital and renal malformations
- OMIM:300978 Tonne-Kalscheuer syndrome
- OMIM:313500 Tooth agenesis, selective, X-linked, 1
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- OMIM:106700 Total anomalous pulmonary venous return 1
- OMIM:107480 Townes-Brocks syndrome 1
- ORPHA:537 Toxic epidermal necrolysis
- ORPHA:230800 Toxin-mediated infectious botulism
- ORPHA:3346 Tracheal agenesis
- OMIM:275300 TRACHEOBRONCHOMEGALY
- ORPHA:3348 Tracheobronchopathia osteochondroplastica
- OMIM:189960 Tracheoesophageal fistula with or without esophageal atresia
- OMIM:189961 Tracheopathia osteoplastica
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18
- OMIM:154500 Treacher Collins syndrome 1
- ORPHA:861 Treacher-Collins syndrome
- OMIM:618939 Treacher-Collins syndrome 4
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- ORPHA:1209 Tricuspid atresia
- OMIM:602079 Trimethylaminuria
- ORPHA:3374 Triopia
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:869 Triple A syndrome
- ORPHA:3378 Trisomy 13
- ORPHA:264450 Trisomy 8p
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:3384 Truncus arteriosus
- ORPHA:3389 Tuberculosis
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:614327 Tumor predisposition syndrome
- OMIM:618371 Turnpenny-Fry syndrome
- ORPHA:99745 Typhoid
- ORPHA:171436 Typical nemaline myopathy
- OMIM:615102 Tyshchenko syndrome
Disease code
Disease name
Disease code
Disease name
- OMIM:276950 Vacterl association with hydrocephalus
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- ORPHA:3417 Van den Bosch 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:192350 Vater associationvacterl association, included
- OMIM:192430 Velocardiofacial syndrome
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- OMIM:614432 Ventricular septal defect 3
- ORPHA:3429 Verloove Vanhorick-Brubakk syndrome
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- OMIM:619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects
- ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:301054 VEXAS syndrome, somatic
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- OMIM:619472 VISS syndrome
- ORPHA:28 Vitamin B12-responsive methylmalonic acidemia
- ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0
- ORPHA:1914 Vitamin K antagonist embryofetopathy
- ORPHA:600 Vocal cord and pharyngeal distal myopathy
- OMIM:193300 von Hippel-Lindau syndrome
Disease code
Disease name
- ORPHA:895 Waardenburg syndrome type 2
- ORPHA:896 Waardenburg syndrome type 3
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:902 Werner syndrome
- OMIM:193670 Whim syndrome
- ORPHA:51636 WHIM syndrome
- ORPHA:3452 Whipple disease
- ORPHA:2475 White forelock with malformations
- OMIM:277740 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:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:330001 Wild type ATTR amyloidosis
- ORPHA:904 Williams syndrome
- OMIM:194050 Williams-Beuren syndrome
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- ORPHA:3463 Wolfram syndrome
- ORPHA:411590 Wolfram-like syndrome
- ORPHA:178475 Wound botulism
- ORPHA:2834 Wrinkly skin syndrome
Disease code
Disease name
- ORPHA:300373 X-linked acrogigantism
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:596 X-linked centronuclear myopathy
- ORPHA:163961 X-linked cerebral-cerebellar-coloboma syndrome
- ORPHA:101077 X-linked Charcot-Marie-Tooth disease type 3
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:53351 X-linked dystonia-parkinsonism
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:85322 X-linked intellectual disability, Pai type
- ORPHA:85288 X-linked intellectual disability, Stocco Dos Santos type
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal 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:2442 X-linked lymphoproliferative disease
- ORPHA:1131 X-linked mandibulofacial dysostosis
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome
- ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type
- ORPHA:75563 X-linked sideroblastic anemia
- ORPHA:158003 Xanthoma disseminatum
- OMIM:615829 Xia-Gibbs syndrome
- ORPHA:3469 XK aprosencephaly syndrome
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
Disease code
Disease name
Disease code
Disease name
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
- AAAS
- AAGAB
- AARS1
- AARS2
- AASS
- ABCA12
- ABCA3
- ABCB11
- ABCB4
- ABCC9
- ABCD4
- ABCG5
- ABCG8
- ABL1
- ACADM
- ACADS
- ACADSB
- ACADVL
- ACAN
- ACAT1
- ACE
- ACOX1
- ACP5
- ACTA1
- ACTA2
- ACTC1
- ACTN2
- ACTN4
- ACVR1
- ACVR2B
- ACVRL1
- ACY1
- ADA
- ADA2
- ADAM22
- ADAMTS13
- ADAMTS19
- ADAMTS2
- ADAMTS3
- ADAMTSL2
- ADARB1
- ADCY6
- ADGRG1
- ADGRG6
- ADNP
- ADPRS
- ADRB2
- AFF3
- AFF4
- AGA
- AGGF1
- AGK
- AGO2
- AGRN
- AGT
- AGTPBP1
- AGTR1
- AHCY
- AHDC1
- AHI1
- AICDA
- AIFM1
- AIP
- AK2
- AK9
- AKT1
- ALAD
- ALAS2
- ALB
- ALDH18A1
- ALDH1A2
- ALDH7A1
- ALG1
- ALG12
- ALG14
- ALG3
- ALG9
- ALMS1
- ALOX12B
- ALOX5
- ALOXE3
- ALPL
- ALX1
- ALX3
- AMER1
- ANG
- ANKFY1
- ANKH
- ANLN
- ANO3
- ANXA11
- AP3B1
- AP3D1
- APC
- APC2
- APOB
- APOE
- APOL1
- ARCN1
- ARHGAP24
- ARHGAP31
- ARHGDIA
- ARHGEF1
- ARID1A
- ARID1B
- ARID2
- ARL13B
- ARL3
- ARL6
- ARMC2
- ARMC9
- ARNT2
- ARPC1B
- ARSB
- ARSL
- ARVCF
- ASAH1
- ASCC1
- ASCL1
- ASNS
- ASPRV1
- ASXL1
- ASXL3
- ATAD1
- ATL1
- ATL3
- ATM
- ATP11A
- ATP13A3
- ATP1A2
- ATP1A3
- ATP5F1A
- ATP6V0A1
- ATP6V0A2
- ATP6V1A
- ATP6V1B2
- ATP6V1E1
- ATP8B1
- ATRX
Gene name
Gene name
- C2CD3
- C3
- C4A
- C4B
- CA2
- CA5A
- CABP4
- CACNA1B
- CACNA1C
- CACNA1D
- CACNA1H
- CACNA1I
- CACNA1S
- CALCRL
- CAMK2B
- CANT1
- CAPN15
- CARD10
- CARD11
- CARMIL2
- CARS1
- CASK
- CASP10
- CASP8
- CASR
- CAT
- CAV1
- CAVIN1
- CBL
- CBS
- CBY1
- CC2D2A
- CCBE1
- CCDC103
- CCDC174
- CCDC22
- CCDC28B
- CCDC39
- CCDC40
- CCDC47
- CCDC65
- CCL11
- CCN2
- CCND1
- CCNF
- CCNO
- CCNQ
- CCR1
- CCR6
- CD19
- CD247
- CD27
- CD28
- CD2AP
- CD3D
- CD3E
- CD3G
- CD4
- CD40LG
- CD46
- CD55
- CD79A
- CD79B
- CD81
- CD8A
- CDC42
- CDC42BPB
- CDC45
- CDC6
- CDCA7
- CDH23
- CDK13
- CDKL5
- CDKN1C
- CDKN2A
- CDON
- CDSN
- CDT1
- CEACAM3
- CEACAM6
- CENPE
- CEP104
- CEP120
- CEP290
- CEP41
- CEP55
- CEP57
- CFAP221
- CFAP298
- CFAP300
- CFAP410
- CFAP45
- CFAP52
- CFAP53
- CFB
- CFH
- CFI
- CFL2
- CFTR
- CHAMP1
- CHAT
- CHCHD10
- CHD7
- CHEK2
- CHMP2B
- CHRM3
- CHRNA1
- CHRNA2
- CHRNA4
- CHRNB1
- CHRNB2
- CHRND
- CHRNE
- CHRNG
- CHST14
- CHST3
- CHUK
- CIITA
- CILK1
- CIROP
- CISD2
- CITED2
- CIZ1
- CLCA4
- CLCF1
- CLCN6
- CLCN7
- CLCNKB
- CLEC7A
- CLIP2
- CLPB
- CNOT1
- CNTN1
- CNTNAP1
- CNTNAP2
- COA6
- COA8
- COG1
- COG4
- COG6
- COG7
- COL11A1
- COL11A2
- COL12A1
- COL13A1
- COL14A1
- COL17A1
- COL1A1
- COL1A2
- COL25A1
- COL2A1
- COL3A1
- COL4A3
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COLQ
- COMT
- COPA
- COQ2
- COQ4
- COQ7
- COQ8B
- COQ9
- CORO1A
- COX14
- COX15
- COX4I2
- COX5A
- COX6A2
- COX6B1
- COX7B
- COX8A
- CPLANE1
- CPLX1
- CPOX
- CPS1
- CPT2
- CR2
- CRB2
- CREBBP
- CRELD1
- CRH
- CRKL
- CRLF1
- CRPPA
- CRTAP
- CRYAB
- CSF2RB
- CSGALNACT1
- CSPP1
- CTBP1
- CTC1
- CTCF
- CTLA4
- CTNNB1
- CTNNBL1
- CTPS1
- CTRC
- CTSC
- CTSD
- CTSK
- CUL7
- CXCR4
- CYB5A
- CYB5R3
- CYBA
- CYBB
- CYBC1
- CYP27A1
- CYP2A6
- CYP4F22
Gene name
- D2HGDH
- DAAM2
- DAG1
- DAO
- DAXX
- DBH
- DCHS1
- DCLRE1C
- DCTN1
- DCTN4
- DCX
- DDB1
- DDC
- DDR2
- DDRGK1
- DDX41
- DDX59
- DEAF1
- DEF6
- DEPDC5
- DES
- DGCR2
- DGCR6
- DGCR8
- DHCR24
- DHCR7
- DHX16
- DICER1
- DIS3L2
- DISC1
- DISP1
- DKC1
- DKK1
- DLEC1
- DLK1
- DLL1
- DLL3
- DLL4
- DMD
- DNA2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DNAJB6
- DNAJC21
- DNAJC30
- DNAL1
- DNASE1
- DNASE1L3
- DNM1L
- DNM2
- DNMT3B
- DOCK2
- DOCK6
- DOCK8
- DOK7
- DOLK
- DONSON
- DPAGT1
- DPF2
- DPH1
- DPH5
- DPM1
- DPM2
- DPP9
- DPYD
- DRC1
- DSC2
- DSE
- DSG1
- DSG2
- DSP
- DST
- DTYMK
- DVL3
- DYM
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYSF
- DZIP1L
Gene name
- EBP
- ECHS1
- ECM1
- EDA
- EDARADD
- EDN1
- EDN3
- EDNRA
- EDNRB
- EFEMP2
- EFL1
- EFTUD2
- EGFR
- EGR2
- EHHADH
- EHMT1
- EIF2AK4
- EIF4H
- ELANE
- ELF4
- ELN
- ELOVL4
- ELP1
- EMC1
- EMD
- EMG1
- EMILIN1
- EMP2
- ENG
- ENPP1
- EOGT
- EOMES
- EP300
- EPG5
- EPHA4
- EPHB4
- EPM2A
- EPOR
- ERAP1
- ERBB2
- ERBB3
- ERBB4
- ERCC2
- ERCC3
- ERCC4
- ERCC6
- ERF
- ERGIC1
- ESS2
- ETFA
- ETFB
- ETFDH
- EVC
- EVC2
- EWSR1
- EXOC2
- EXOC6B
- EXOSC3
- EXOSC8
- EXOSC9
- EXT1
- EXT2
- EXTL3
Gene name
- F12
- F13A1
- F2
- F5
- FADD
- FAM111B
- FAM13A
- FAM149B1
- FAM20C
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FARS2
- FARSA
- FARSB
- FAS
- FASLG
- FAT4
- FBLN5
- FBN1
- FBN2
- FBP1
- FBXO28
- FBXW7
- FCGR2A
- FCGR2B
- FCGR3A
- FCGR3B
- FCHO1
- FCN3
- FCSK
- FERMT1
- FGF10
- FGF13
- FGF20
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FHL1
- FIG4
- FIP1L1
- FKBP10
- FKBP6
- FKRP
- FKTN
- FLAD1
- FLCN
- FLG
- FLI1
- FLII
- FLNA
- FLNB
- FLNC
- FLT4
- FMO3
- FNIP1
- FOCAD
- FOXC2
- FOXE1
- FOXE3
- FOXF1
- FOXG1
- FOXH1
- FOXI1
- FOXJ1
- FOXN1
- FOXP1
- FOXP3
- FOXRED1
- FRAS1
- FREM1
- FREM2
- FRG1
- FSHR
- FUCA1
- FUS
- FUT8
- FUZ
- FXR1
Gene name
- G6PC3
- GAA
- GABBR2
- GABRA1
- GABRA3
- GABRB3
- GABRG2
- GALC
- GALK1
- GALNS
- GAPVD1
- GARS1
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA2
- GATA4
- GATA6
- GATM
- GBA1
- GCDH
- GCLC
- GDAP1
- GDF1
- GDF2
- GDNF
- GEMIN4
- GFI1
- GFPT1
- GFRA1
- GGPS1
- GIMAP5
- GJA1
- GLA
- GLB1
- GLDN
- GLE1
- GLI1
- GLI2
- GLI3
- GLMN
- GLRA1
- GLS
- GLT8D1
- GLUL
- GLYCTK
- GM2A
- GMNN
- GMPPA
- GMPPB
- GNA11
- GNAI3
- GNAQ
- GNAS
- GNB1
- GNB2
- GNE
- GNPTAB
- GNS
- GORAB
- GP1BA
- GP1BB
- GP9
- GPC3
- GPC4
- GPC6
- GPHN
- GPKOW
- GPR101
- GPR35
- GPX4
- GRB10
- GREB1L
- GRHL2
- GRHL3
- GRIA1
- GRIK2
- GRIN1
- GRIN2A
- GRIP1
- GRM7
- GSN
- GSTM3
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GTPBP3
- GUF1
- GUSB
- GYG1
Gene name
- H19
- H3-3A
- H3-3B
- H4C3
- H4C5
- HAAO
- HABP2
- HACD1
- HADHA
- HADHB
- HBB
- HBG1
- HBG2
- HCCS
- HDAC4
- HELLPAR
- HELLS
- HEPHL1
- HERC2
- HES7
- HESX1
- HEXA
- HEY2
- HFE
- HGSNAT
- HIBCH
- HIRA
- HK1
- HLA-B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLA-G
- HLCS
- HMBS
- HMGA2
- HMGCL
- HMOX1
- HNMT
- HNRNPA1
- HNRNPA2B1
- HNRNPK
- HNRNPR
- HOXA1
- HOXD13
- HPDL
- HPGD
- HPS1
- HPS4
- HPS6
- HRAS
- HS3ST6
- HSD3B2
- HSPD1
- HSPG2
- HTRA2
- HYLS1
- HYMAI
- HYOU1
Gene name
- IBA57
- ICOS
- IDH1
- IDUA
- IER3IP1
- IFIH1
- IFNG
- IFNGR1
- IFT122
- IFT140
- IFT172
- IFT43
- IFT52
- IFT80
- IFT81
- IGBP1
- IGF2
- IGH
- IGHG2
- IGHM
- IGHMBP2
- IGKC
- IGLL1
- IGSF3
- IKBKB
- IKBKG
- IKZF1
- IL10
- IL10RB
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL13
- IL17F
- IL17RA
- IL17RC
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL4R
- IL6
- IL6R
- IL6ST
- IL7R
- INF2
- INPP5E
- INPP5K
- INPPL1
- INTU
- INVS
- IPO8
- IPW
- IQSEC2
- IRAK1
- IRAK4
- IRF1
- IRF2BP2
- IRF4
- IRF5
- IRF6
- IRF8
- IRF9
- ISCU
- ITCH
- ITGA3
- ITGA7
- ITGA8
- ITK
- ITPR1
- IVNS1ABP
Gene name
- KANSL1
- KAT6A
- KAT6B
- KATNB1
- KATNIP
- KBTBD13
- KCNA1
- KCNE3
- KCNJ10
- KCNJ11
- KCNJ18
- KCNJ2
- KCNJ5
- KCNJ6
- KCNK3
- KCNMA1
- KCNN4
- KCNQ2
- KCNQ3
- KCNT1
- KDM5C
- KDM6A
- KEAP1
- KIAA0319L
- KIAA0586
- KIAA0753
- KIF11
- KIF1A
- KIF1B
- KIF20A
- KIF22
- KIF5A
- KIF7
- KIT
- KITLG
- KLF1
- KLHL40
- KLHL41
- KLHL7
- KLRC4
- KMT2C
- KMT2D
- KNSTRN
- KPTN
- KRAS
- KRT14
- KRT16
- KRT17
- KRT18
- KRT5
- KRT6A
- KRT6B
- KYNU
Gene name
- LACC1
- LAMA2
- LAMA3
- LAMB2
- LAMB3
- LAMC2
- LAMP2
- LAMTOR2
- LARGE1
- LARP7
- LARS2
- LAT
- LBR
- LBX1
- LCK
- LDLR
- LDLRAP1
- LEP
- LEPR
- LETM1
- LFNG
- LGI4
- LIAS
- LIFR
- LIG1
- LIG4
- LIMK1
- LIPN
- LIPT1
- LIPT2
- LMBRD1
- LMNA
- LMNB1
- LMOD3
- LMX1B
- LONP1
- LOX
- LPIN2
- LRBA
- LRIF1
- LRP12
- LRP4
- LRP5
- LRPPRC
- LRRC32
- LRRC56
- LRRC8A
- LTBP1
- LTBP3
- LTBP4
- LYRM4
- LYRM7
- LYST
- LZTR1
Gene name
- MAD2L2
- MADD
- MAGEL2
- MAGI2
- MAGT1
- MALT1
- MAMLD1
- MAN2B1
- MANBA
- MAP2K1
- MAP3K20
- MAP3K7
- MAP3K8
- MAPK1
- MAPT
- MARS1
- MASP2
- MAT2A
- MATR3
- MBTPS2
- MCCC1
- MCCC2
- MCIDAS
- MCM3AP
- MCM4
- MCTP2
- MDFIC
- MDM2
- MDM4
- MECP2
- MED12
- MED25
- MED27
- MEFV
- MEG3
- MEGF10
- MEIS2
- MESP2
- METTL27
- MFAP5
- MFN2
- MGAT2
- MGME1
- MGP
- MIA3
- MICOS13
- MID1
- MIF
- MINPP1
- MIR140
- MITF
- MKKS
- MKRN3
- MKS1
- MLH1
- MLX
- MLXIPL
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMP1
- MMP21
- MMUT
- MOGS
- MORC2
- MPC1
- MPDU1
- MPEG1
- MPL
- MPLKIP
- MPV17
- MPZ
- MRAS
- MRPL3
- MRPS14
- MRPS22
- MRPS34
- MS4A1
- MS4A2
- MSH2
- MSH6
- MSN
- MST1
- MST1R
- MSX1
- MT-ATP6
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TE
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TL2
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MTFMT
- MTHFD1
- MTHFR
- MTM1
- MTMR14
- MTOR
- MTTP
- MUC5B
- MUC7
- MUSK
- MYBPC1
- MYBPC3
- MYCN
- MYD88
- MYF6
- MYH11
- MYH3
- MYH6
- MYH7
- MYL1
- MYL2
- MYL3
- MYL9
- MYLK
- MYMK
- MYMX
- MYO1E
- MYO1H
- MYO5A
- MYO9A
- MYOD1
- MYOT
- MYOZ2
- MYPN
- MYRF
- MYSM1
Gene name
- NAA10
- NAB2
- NABP1
- NACC1
- NADK2
- NAGLU
- NAGS
- NALCN
- NAXE
- NBN
- NCF2
- NCF4
- NCKAP1L
- NDE1
- NDN
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB8
- NDUFB9
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECTIN1
- NEFH
- NEK1
- NEK10
- NEK8
- NEK9
- NELFA
- NEMF
- NEPRO
- NEU1
- NF2
- NFASC
- NFE2L2
- NFIX
- NFKB1
- NFKB2
- NFKBIA
- NFS1
- NFU1
- NGLY1
- NHLRC1
- NHLRC2
- NHP2
- NIN
- NIPA1
- NIPA2
- NIPAL4
- NIPBL
- NKX2-1
- NKX2-5
- NKX2-6
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NME5
- NME8
- NOD2
- NODAL
- NONO
- NOP10
- NOS1
- NOTCH1
- NOTCH3
- NPAP1
- NPC2
- NPHP1
- NPHP3
- NPHS1
- NPHS2
- NPM1
- NPPA
- NR1H4
- NR3C1
- NR5A1
- NRAS
- NRCAM
- NRXN1
- NSD1
- NSD2
- NSDHL
- NSF
- NSMCE3
- NSUN2
- NTNG1
- NTRK1
- NUBPL
- NUMA1
- NUP107
- NUP133
- NUP160
- NUP188
- NUP205
- NUP214
- NUP37
- NUP85
- NUP88
- NUP93
- NUTM2B-AS1
- NXN
Gene name
Gene name
- P4HA2
- P4HTM
- PAFAH1B1
- PAICS
- PAK2
- PALB2
- PAM16
- PANK2
- PARN
- PAX2
- PAX3
- PAX6
- PAX7
- PAX8
- PBX1
- PCCA
- PCCB
- PCGF2
- PCK1
- PCNT
- PCSK9
- PDE11A
- PDE4D
- PDE6D
- PDGFB
- PDGFRA
- PDGFRB
- PDHA1
- PDSS1
- PEPD
- PERP
- PET100
- PET117
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFN1
- PGM1
- PGM3
- PHGDH
- PHIP
- PHYH
- PI4KA
- PIBF1
- PIEZO1
- PIEZO2
- PIGA
- PIGG
- PIGL
- PIGN
- PIGO
- PIGT
- PIGY
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PIP5K1C
- PKD1L1
- PKDCC
- PKHD1
- PKP1
- PKP2
- PLA2G6
- PLA2G7
- PLAA
- PLAG1
- PLAGL1
- PLCB3
- PLCB4
- PLCE1
- PLCG2
- PLCH1
- PLD1
- PLEC
- PLEKHG5
- PLG
- PLOD1
- PLOD2
- PLP1
- PLPBP
- PLVAP
- PLXND1
- PML
- PMM2
- PMP22
- PNKD
- PNP
- PNPLA2
- POGLUT1
- POGZ
- POLA1
- POLE
- POLG
- POLG2
- POLR1B
- POLR1C
- POLR1D
- POLR2A
- POLR3A
- POLR3H
- POMK
- POMT1
- POMT2
- PON1
- PON2
- PON3
- POR
- PORCN
- POT1
- POU6F2
- PPARGC1A
- PPCS
- PPM1D
- PPOX
- PPP1CB
- PPP1R21
- PPP2R1B
- PRDM13
- PRF1
- PRG4
- PRIM1
- PRKACA
- PRKACB
- PRKAG2
- PRKAR1A
- PRKAR1B
- PRKCD
- PRKCSH
- PRKDC
- PRKG1
- PRKN
- PRMT7
- PRNP
- PROC
- PROKR2
- PROS1
- PRPH
- PRPS1
- PRR12
- PRRT2
- PRRX1
- PRSS1
- PRSS2
- PRTN3
- PRUNE1
- PSAP
- PSAT1
- PSMB4
- PSMB8
- PSMB9
- PSMC3IP
- PTCD3
- PTCH1
- PTEN
- PTF1A
- PTGER2
- PTH1R
- PTPN11
- PTPN22
- PTPRO
- PTRH2
- PUF60
- PURA
- PWAR1
- PWRN1
- PYGM
- PYROXD1
Gene name
- RAB27A
- RAB3GAP2
- RAC1
- RAC2
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RALGAPA1
- RANBP2
- RAPSN
- RARA
- RARB
- RARS2
- RASA1
- RASA2
- RASGRP1
- RB1
- RBM10
- RBPJ
- RCBTB1
- REEP1
- REL
- RELA
- RELB
- RELN
- REN
- RERE
- REST
- RET
- RFC2
- RFT1
- RFWD3
- RFX5
- RFXANK
- RFXAP
- RHAG
- RHCE
- RHD
- RHOH
- RIC1
- RIN2
- RIPK1
- RIPK4
- RIPPLY2
- RIT1
- RLIM
- RMRP
- RNASEH1
- RNASEH2A
- RNF113A
- RNF125
- RNF13
- RNF168
- RNF6
- RNU4ATAC
- ROR2
- RPA1
- RPGR
- RPGRIP1L
- RPL10
- RPL3L
- RPL5
- RPS15A
- RPS26
- RPS28
- RPS6KA3
- RRAS
- RRAS2
- RREB1
- RRM2B
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO1
- RSPO2
- RSPRY1
- RTEL1
- RTL1
- RUNX2
- RYR1
Gene name
- SALL1
- SALL4
- SAMD9
- SAMD9L
- SARS2
- SASH3
- SATB1
- SATB2
- SBDS
- SBF2
- SCARB2
- SCARF2
- SCGB3A2
- SCN10A
- SCN11A
- SCN1B
- SCN2A
- SCN4A
- SCN5A
- SCN8A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCO1
- SCO2
- SCUBE3
- SCYL2
- SDCCAG8
- SDHA
- SDHD
- SDR9C7
- SEC24C
- SEC31A
- SEC63
- SELENON
- SEMA3E
- SEMA4D
- SEPSECS
- SEPTIN9
- SERPINA1
- SERPINC1
- SERPINF2
- SERPING1
- SERPINH1
- SETBP1
- SETD2
- SF3B2
- SF3B4
- SFRP4
- SFTPA1
- SFTPA2
- SFTPB
- SFTPC
- SGCG
- SGSH
- SH2B3
- SH2D1A
- SH3BP2
- SH3KBP1
- SH3TC2
- SHH
- SHPK
- SHROOM4
- SIAH1
- SIK1
- SIK3
- SIM1
- SIN3A
- SIX2
- SIX3
- SKI
- SKIC2
- SKIC3
- SLC11A1
- SLC12A2
- SLC12A3
- SLC12A6
- SLC18A2
- SLC18A3
- SLC19A3
- SLC1A3
- SLC1A4
- SLC22A18
- SLC22A5
- SLC25A1
- SLC25A12
- SLC25A15
- SLC25A20
- SLC25A21
- SLC25A22
- SLC25A24
- SLC25A26
- SLC25A3
- SLC25A4
- SLC25A46
- SLC26A2
- SLC26A4
- SLC26A9
- SLC27A4
- SLC29A3
- SLC2A1
- SLC2A10
- SLC30A9
- SLC34A1
- SLC34A2
- SLC35A1
- SLC35A2
- SLC35C1
- SLC37A4
- SLC39A8
- SLC41A1
- SLC46A1
- SLC4A1
- SLC52A2
- SLC52A3
- SLC5A7
- SLC6A14
- SLC6A5
- SLC6A9
- SLC7A7
- SLC9A3
- SLCO2A1
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMAD9
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMC1A
- SMCHD1
- SMG8
- SMO
- SMPD1
- SMPD4
- SMPX
- SNAI2
- SNAP25
- SNAP29
- SNIP1
- SNORD115-1
- SNORD116-1
- SNRPB
- SNRPN
- SNX10
- SOCS1
- SOD1
- SON
- SOS1
- SOS2
- SOX10
- SOX11
- SOX18
- SOX2
- SOX3
- SOX4
- SOX9
- SP110
- SPAG1
- SPECC1L
- SPEF2
- SPEG
- SPG11
- SPI1
- SPIDR
- SPINK1
- SPINK5
- SPOP
- SPP1
- SPRED1
- SPRED2
- SPTBN1
- SPTBN4
- SPTLC1
- SPTLC2
- SQSTM1
- SREBF1
- SRP54
- SRPX2
- SRSF2
- SSR4
- STAC3
- STAG2
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STAT6
- STIL
- STIM1
- STING1
- STK11
- STK36
- STN1
- STRA6
- STT3B
- STX11
- STX16
- STX1A
- STX3
- STXBP1
- STXBP2
- SUCLA2
- SUCLG1
- SUFU
- SULT2B1
- SURF1
- SYK
- SYNE1
- SYNE2
- SYT1
- SYT2
Gene name
- TACO1
- TAF1
- TAF15
- TAFAZZIN
- TALDO1
- TAOK1
- TAP1
- TAP2
- TAPBP
- TAPT1
- TARDBP
- TARS1
- TASP1
- TBC1D23
- TBC1D24
- TBC1D8B
- TBCD
- TBCE
- TBCK
- TBK1
- TBL1XR1
- TBL2
- TBR1
- TBX1
- TBX20
- TBX21
- TBX3
- TBX4
- TBX5
- TBX6
- TCF3
- TCF4
- TCIRG1
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TECPR2
- TERC
- TERT
- TET2
- TFG
- TFRC
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGIF1
- TGM1
- THBD
- THOC2
- THPO
- THSD4
- TICAM1
- TIMM8A
- TIMMDC1
- TINF2
- TK2
- TLK2
- TLL1
- TLR3
- TLR4
- TMCO1
- TMEM107
- TMEM126B
- TMEM138
- TMEM216
- TMEM218
- TMEM231
- TMEM237
- TMEM260
- TMEM270
- TMEM43
- TMEM67
- TMEM70
- TMEM94
- TNF
- TNFRSF11A
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFSF11
- TNFSF12
- TNNC1
- TNNI3
- TNNT1
- TNNT2
- TNPO3
- TOE1
- TOGARAM1
- TOM1
- TONSL
- TOPORS
- TOR1A
- TOR1AIP1
- TP53
- TP63
- TP73
- TPI1
- TPM2
- TPM3
- TPP2
- TRAF3
- TRAF3IP2
- TRAF7
- TRAIP
- TRAK1
- TRAPPC11
- TREM2
- TREX1
- TRIM2
- TRIM28
- TRIM37
- TRIP11
- TRIP13
- TRIP4
- TRMT5
- TRMU
- TRPC6
- TRPM4
- TRPS1
- TRPV3
- TRPV4
- TRPV6
- TRRAP
- TSC1
- TSC2
- TSEN15
- TSEN2
- TSEN34
- TSEN54
- TSFM
- TSPYL1
- TTC12
- TTC21B
- TTC26
- TTC7A
- TTN
- TUBA1A
- TUBB4A
- TUBG1
- TUFM
- TWIST1
- TWNK
- TXNDC15
- TYK2
- TYMS
- TYR
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
