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Abnormality of the immune system
Therapeutic area code (HPO):
HP:0002715Panel «Abnormality of the immune system» :
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Disease code
Disease name
- ORPHA:276422 10q22.3q23.3 microduplication syndrome
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:261190 15q14 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:1727 22q11.2 duplication syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency
- ORPHA:445038 3-methylglutaconic aciduria type 7
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- ORPHA:7 3C 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
- OMIM:260005 5-@oxoprolinase deficiency
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:284160 8q21.11 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Disease code
Disease name
- ORPHA:439232 AApoAIV amyloidosis
- 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:1658 Absence of fingerprints-congenital milia syndrome
- ORPHA:980 Absence of the pulmonary artery
- ORPHA:926 Acatalasemia
- OMIM:619959 ACCES syndrome
- OMIM:200400 Achalasia, familial esophageal
- OMIM:100800 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- ORPHA:40366 Acitretin/etretinate embryopathy
- OMIM:142690 Acne inversa, familial
- OMIM:613736 Acne inversa, familial, 2, with or without dowling-degos disease
- OMIM:613737 Acne inversa, familial, 3
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:454 Acquired ichthyosis
- ORPHA:75564 Acquired idiopathic sideroblastic anemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:263534 Acral peeling skin syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- ORPHA:37 Acrodermatitis enteropathica
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- ORPHA:950 Acrodysostosis
- OMIM:101840 Acrokeratoderma, hereditary papulotranslucent
- ORPHA:38 Acrokeratoelastoidosis of Costa
- ORPHA:963 Acromegaly
- OMIM:174770 Actinic prurigo
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion
- ORPHA:318 Acute erythroid leukemia
- ORPHA:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- 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:86843 Acute panmyelosis with myelofibrosis
- ORPHA:90064 Acute peripheral arterial occlusion
- OMIM:612376 Acute promyelocytic leukemia
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- ORPHA:974 Adams-Oliver syndrome
- OMIM:616028 Adams-Oliver syndrome 5
- OMIM:616589 Adams-Oliver syndrome 6
- ORPHA:85138 Addison disease
- ORPHA:976 Adenine phosphoribosyltransferase deficiency
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:99976 Adenocarcinoma of the esophagus
- ORPHA:95512 Adenohypophysitis
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- ORPHA:70578 Adult acute respiratory distress syndrome
- ORPHA:2688 Adult idiopathic neutropenia
- OMIM:103285 Adult syndrome
- ORPHA:99027 Adult-onset autosomal dominant leukodystrophy
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- OMIM:202400 Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included
- ORPHA:139507 African iron overload
- ORPHA:3385 African trypanosomiasis
- 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:613506 Agammaglobulinemia 5, autosomal dominant
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:615214 Agammaglobulinemia 7, autosomal recessive
- OMIM:616941 Agammaglobulinemia 8, autosomal dominant
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:619693 Agammaglobulinemia 9, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- ORPHA:98850 Aggressive systemic mastocytosis
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610181 Aicardi-Goutieres syndrome 2
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:612952 Aicardi-Goutieres syndrome 5
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:85443 AL amyloidosis
- OMIM:617694 Al Kaissi syndrome
- OMIM:609465 Al-Gazali syndrome
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- ORPHA:58 Alexander disease
- ORPHA:79327 ALG1-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:56 Alkaptonuria
- ORPHA:1164 Allergic bronchopulmonary aspergillosis
- OMIM:103920 Allergic bronchopulmonary aspergillosis
- ORPHA:93925 Alobar holoprosencephaly
- ORPHA:1006 Alopecia antibody deficiency
- OMIM:104000 Alopecia areata 1
- OMIM:104130 Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
- ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- OMIM:618840 Alopecia-mental retardation syndrome 4
- OMIM:613490 Alpha-1-Antitrypsin deficiency
- ORPHA:60 Alpha-1-antitrypsin deficiency
- ORPHA:100025 Alpha-heavy chain disease
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:846 Alpha-thalassemia
- ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- ORPHA:63 Alport syndrome
- OMIM:203780 Alport syndrome 2, autosomal recessive
- OMIM:104200 Alport syndrome 3, autosomal dominant
- OMIM:301050 Alport syndrome, X-linked
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:284 Alveolar echinococcosis
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:619151 AMED syndrome, digenic
- OMIM:104570 Ameloonychohypohidrotic syndrome
- ORPHA:3386 American trypanosomiasis
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- ORPHA:67043 Amoebic keratitis
- OMIM:105200 Amyloidosis, familial visceral
- OMIM:616000 Analbuminemia
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:618853 Anauxetic dysplasia 3
- OMIM:205700 Anemia, autoimmune hemolytic
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:615631 Anemia, congenital dyserythropoietic, type Ib
- OMIM:224100 Anemia, dyserythropoietic congenital, type II
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:615234 Anemia, hypochromic microcytic, with iron overload 2
- OMIM:206400 Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism
- OMIM:616860 Anemia, sideroblastic, 3, pyridoxine-refractory
- OMIM:619523 Anemia, sideroblastic, 5
- OMIM:206000 Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
- OMIM:300835 Anemia, X-linked, with or without neutropenia and/or platelet abnormalities
- ORPHA:1054 Aneurysm of sinus of Valsalva
- OMIM:106100 Angioedema, hereditary, 1
- ORPHA:74 Angiostrongyliasis
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- ORPHA:375 Anti-glomerular basement membrane disease
- OMIM:107320 Antiphospholipid syndrome, familial
- ORPHA:81 Antisynthetase syndrome
- OMIM:101200 Apert syndrome
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1117 Aplasia cutis-myopia syndrome
- OMIM:207750 Apolipoprotein C-II deficiency
- ORPHA:498359 Aquagenic palmoplantar keratoderma
- ORPHA:2356 Arachnoid cyst
- ORPHA:137817 Arachnoiditis
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- ORPHA:101096 Aregenerative anemia
- ORPHA:1136 Arnold-Chiari malformation type II
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:614262 Arthrogryposis, perthes disease, and upward gaze palsy
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- OMIM:301835 Arts syndrome
- ORPHA:2302 Asbestos intoxication
- ORPHA:137686 Asherman syndrome
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:271400 Asplenia, isolated congenital
- OMIM:208550 Asthma, nasal polyps, and aspirin intolerance
- OMIM:208600 Asthma, short stature, and elevated iga
- OMIM:600807 Asthma, susceptibility to
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- OMIM:609033 Ataxia, posterior column, with retinitis pigmentosa
- OMIM:159550 Ataxia-Pancytopenia syndrome
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:163934 Atopic keratoconjunctivitis
- ORPHA:105 Atresia of urethra
- 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:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:2134 Atypical hemolytic uremic syndrome
- OMIM:300645 Atypical mycobacteriosis, familial, X-linked 2
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:109100 Autoimmune disease
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:617006 Autoimmune disease, multisystem, infantile-onset, 2
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- OMIM:607836 Autoimmune disease, susceptibility to, 1
- 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:2137 Autoimmune hepatitis
- ORPHA:36913 Autoimmune hypoparathyroidism
- OMIM:616414 Autoimmune interstitial lung, joint, and kidney disease
- OMIM:601859 Autoimmune lymphoproliferative syndrome
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:603909 Autoimmune lymphoproliferative syndrome, type IIA
- 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
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:3453 Autoimmune polyendocrinopathy type 1
- ORPHA:3143 Autoimmune polyendocrinopathy type 2
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- ORPHA:747 Autoimmune pulmonary alveolar proteinosis
- OMIM:608175 Autoimmune thyroid disease, susceptibility to, 3
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:618852 Autoinflammation with episodic fever and lymphadenopathy
- OMIM:616050 Autoinflammation with infantile enterocolitis
- OMIM:614878 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
- OMIM:618999 Autoinflammation, immune dysregulation, and eosinophilia
- OMIM:617099 Autoinflammation, panniculitis, and dermatosis syndrome
- OMIM:301081 Autoinflammatory disease, systemic, X-linked
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- OMIM:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- OMIM:619858 Autoinflammatory-pancytopenia syndrome
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:428 Autosomal dominant hypocalcemia
- ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:2334 Autosomal dominant keratitis
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:79278 Autosomal erythropoietic protoporphyria
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:454836 Avian influenza
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:601088 Ayme-Gripp syndrome
Disease code
Disease name
- OMIM:616452 B-cell expansion with NFKB and T-cell anergy
- OMIM:109543 B-CELL MALIGNANCY, LOW-GRADE
- ORPHA:79332 B4GALT1-CDG
- ORPHA:108 Babesiosis
- ORPHA:183713 Bacterial susceptibility due to TLR signaling pathway deficiency
- ORPHA:36234 Bacterial toxic-shock syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba 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:111 Barth syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:100976 Bathing suit ichthyosis
- OMIM:301845 Bazex syndrome
- OMIM:613680 Beaulieu-Boycott-Innes syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- ORPHA:157997 Benign cephalic histiocytosis
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- OMIM:614592 Bent bone dysplasia syndrome
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:153670 Bernard-Soulier syndrome, type A2, autosomal dominant
- ORPHA:134 Beta-ketothiolase deficiency
- ORPHA:118 Beta-mannosidosis
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome
- ORPHA:79138 Bickerstaff brainstem encephalitis
- ORPHA:69736 Bilateral acute depigmentation of the iris
- OMIM:607765 Bile acid synthesis defect, congenital, 1
- OMIM:235555 Bile acid synthesis defect, congenital, 2
- OMIM:613812 Bile acid synthesis defect, congenital, 3
- OMIM:214950 Bile acid synthesis defect, congenital, 4
- OMIM:616278 Bile acid synthesis defect, congenital, 5
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- OMIM:605808 Birdshot chorioretinopathy
- ORPHA:179 Birdshot chorioretinopathy
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:109820 Bladder diverticulum
- OMIM:191800 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
- ORPHA:93930 Bladder exstrophy
- ORPHA:90340 Blau syndrome
- OMIM:186580 Blau syndrome
- OMIM:617443 Bleeding disorder, platelet-type, 21
- 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
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:1059 Blue rubber bleb nevus
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:620044 Bone marrow failure and diabetes mellitus syndrome
- OMIM:615715 Bone marrow failure syndrome 2
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:618165 Bone marrow failure syndrome 5
- OMIM:618849 Bone marrow failure syndrome 6
- ORPHA:83313 Boutonneuse fever
- ORPHA:2619 Brachydactylous dwarfism, Mseleni type
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:1303 Bronchiolitis obliterans with obstructive pulmonary disease
- ORPHA:2357 Bronchogenic cyst
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- ORPHA:1304 Brucellosis
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- ORPHA:131 Budd-Chiari syndrome
- ORPHA:280785 Bullous diffuse cutaneous mastocytosis
- ORPHA:36237 Bullous impetigo
- ORPHA:703 Bullous pemphigoid
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:543 Burkitt lymphoma
- OMIM:113970 Burkitt lymphoma
- ORPHA:132 Butyrylcholinesterase deficiency
Disease code
Disease name
- ORPHA:1308 C syndrome
- OMIM:613652 C1q deficiency
- ORPHA:329918 C3 glomerulopathy
- OMIM:609536 C5 deficiency
- OMIM:612446 C6 deficiency
- OMIM:610102 C7 deficiency
- ORPHA:135 CACH syndrome
- ORPHA:1310 Caffey disease
- OMIM:114065 Calcific aortic disease with immunologic abnormalities, familial
- ORPHA:280062 Calciphylaxis
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- OMIM:208250 Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome
- ORPHA:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- ORPHA:1328 Camurati-Engelmann disease
- ORPHA:71505 Cancer-associated retinopathy
- OMIM:114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant
- OMIM:212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive
- OMIM:613108 Candidiasis, familial, 4
- OMIM:613956 Candidiasis, familial, 6, autosomal dominant
- OMIM:615527 Candidiasis, familial, 8
- OMIM:616445 Candidiasis, familial, 9
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- OMIM:212060 Carbimazole sensitivity
- ORPHA:100093 Carcinoid syndrome
- ORPHA:70482 Carcinoma of esophagus
- OMIM:615206 Card11 immunodeficiency
- ORPHA:1686 Cardiac diverticulum
- OMIM:618280 Cardiac-Urogenital syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:619123 Cardiofacioneurodevelopmental syndrome
- OMIM:157800 Cardiospondylocarpofacial syndrome
- ORPHA:139411 Carney triad
- ORPHA:53035 Caroli disease
- OMIM:600643 Caroli disease, isolated
- ORPHA:480520 Caroli syndrome
- ORPHA:65759 Carpenter syndrome
- OMIM:201000 Carpenter syndrome 1
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- ORPHA:1388 Catel-Manzke syndrome
- OMIM:618761 Catifa syndrome
- OMIM:608957 Cd8 deficiency, familial
- OMIM:226810 Celiac disease, epilepsy and cerebral calcification syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- ORPHA:759 Central precocious puberty
- ORPHA:90156 Centrifugal lipodystrophy
- OMIM:212800 Cephalin lipidosis
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- ORPHA:447788 Cerebral visual impairment
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- ORPHA:169079 Cernunnos-XLF deficiency
- OMIM:204200 Ceroid lipofuscinosis, neuronal, 3
- OMIM:609055 Ceroid lipofuscinosis, neuronal, 9
- OMIM:214200 Ceroid storage disease
- ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome
- OMIM:601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
- OMIM:614809 Cfhr5 deficiency
- OMIM:600882 Charcot-Marie-Tooth disease, axonal, type 2B
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- OMIM:214500 Chediak-Higashi syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- ORPHA:1221 Cheilitis glandularis
- OMIM:118400 Cherubism
- ORPHA:324625 Chikungunya
- ORPHA:90280 Chilblain lupus
- OMIM:610448 Chilblain lupus 1
- OMIM:614415 Chilblain lupus 2
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:137914 Choanal atresia
- ORPHA:173 Cholera
- OMIM:214980 Cholestasis with gallstone, ataxia, and visual disturbance
- OMIM:243300 Cholestasis, benign recurrent intrahepatic 1
- OMIM:211600 Cholestasis, progressive familial intrahepatic 1
- OMIM:601847 Cholestasis, progressive familial intrahepatic 2
- OMIM:619868 Cholestasis, progressive familial intrahepatic, 10
- OMIM:620010 Cholestasis, progressive familial intrahepatic, 12
- OMIM:602347 Cholestasis, progressive familial intrahepatic, 3
- OMIM:619658 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
- OMIM:619662 Cholestasis, progressive familial intrahepatic, 8
- OMIM:619849 Cholestasis, progressive familial intrahepatic, 9
- ORPHA:1414 Cholestasis-lymphedema syndrome
- OMIM:214900 Cholestasis-Lymphedema syndrome
- ORPHA:75234 Cholesteryl ester storage disease
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- ORPHA:319195 Chondroectodermal dysplasia with night blindness
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- OMIM:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- ORPHA:2388 Choreoacanthocytosis
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- ORPHA:182 Chromomycosis
- OMIM:616604 Chromosome 14q32 duplication syndrome, 700-kb
- OMIM:615656 Chromosome 15q11.2 deletion syndrome
- OMIM:616898 Chromosome 15q14 deletion syndrome
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:614527 Chromosome 17q12 deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:600430 Chromosome 2q37 deletion syndrome
- OMIM:300578 Chromosome xp11.3 deletion syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- ORPHA:330064 Chronic actinic dermatitis
- 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:521 Chronic myeloid leukemia
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:91359 Chronic pneumonitis of infancy
- OMIM:259680 Chronic recurrent multifocal osteomyelitis
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- OMIM:118830 Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase
- ORPHA:1160 Chylous ascites
- ORPHA:435651 CIDEC-related familial partial lipodystrophy
- OMIM:215518 Ciliary discoordination due to random ciliary orientation
- 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: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:619273 Cimdag syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- OMIM:118900 Cirrhosis, familial
- OMIM:215600 Cirrhosis, familial
- ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:247585 Citrullinemia type II
- OMIM:603471 Citrullinemia, type II, adult-onset
- ORPHA:168984 CLAPO syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:2584 Classic mycosis fungoides
- ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration
- ORPHA:79254 Classic phenylketonuria
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:1991 Cleft lip with or without cleft palate
- ORPHA:199306 Cleft lip/palate
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:619074 Cleft palate, proliferative retinopathy, and developmental delay
- ORPHA:99772 Cleft velum
- ORPHA:1452 Cleidocranial dysplasia
- ORPHA:228346 CLN3 disease
- OMIM:129500 Clouston syndrome
- OMIM:216360 Coach syndrome 1
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- OMIM:216400 Cockayne syndrome A
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90322 Cockayne syndrome type 2
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:133540 Cockayne syndrome, type B
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:619325 Coffin-Siris syndrome 12
- OMIM:614607 Coffin-Siris syndrome 2
- OMIM:614608 Coffin-Siris syndrome 3
- OMIM:616938 Coffin-Siris syndrome 5
- OMIM:618027 Coffin-Siris syndrome 7
- OMIM:618362 Coffin-Siris syndrome 8
- ORPHA:1466 COFS syndrome
- ORPHA:263508 COG1-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:263487 COG5-CDG
- ORPHA:79333 COG7-CDG
- ORPHA:1467 Cogan syndrome
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193 Cohen syndrome
- OMIM:216550 Cohen syndrome
- ORPHA:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:233650 Combined cellular and humoral immune defects with granulomas
- 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
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619423 Combined oxidative phosphorylation deficiency 53
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:611721 Combined saposin deficiency
- ORPHA:1572 Common variable immunodeficiency
- OMIM:217000 Complement component 2 deficiency
- OMIM:613779 Complement component 3 deficiency, autosomal recessive
- OMIM:120790 Complement component 4, partial deficiency of
- OMIM:614380 Complement component 4A deficiency
- OMIM:614379 Complement component 4B deficiency
- OMIM:613790 Complement component 8 deficiency, type I
- OMIM:613789 Complement component 8 deficiency, type II
- OMIM:613825 Complement component 9 deficiency
- OMIM:216950 Complement component c1r deficiency
- OMIM:613783 Complement component c1s deficiency
- OMIM:615561 Complement factor B deficiency
- OMIM:613912 Complement factor D deficiency
- OMIM:609814 Complement factor H deficiency
- OMIM:610984 Complement factor I deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:99429 Complete androgen insensitivity syndrome
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- ORPHA:86816 Congenital analbuminemia
- ORPHA:3093 Congenital aortic valve stenosis
- ORPHA:1195 Congenital atransferrinemia
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79303 Congenital bile acid synthesis defect type 2
- ORPHA:79302 Congenital bile acid synthesis defect type 3
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- 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:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:609180 Congenital disorder of glycosylation, type IF
- 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:611209 Congenital disorder of glycosylation, type IIg
- OMIM:611182 Congenital disorder of glycosylation, type IIh
- OMIM:613489 Congenital disorder of glycosylation, type IIj
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:300896 Congenital disorder of glycosylation, type IIm
- OMIM:616721 Congenital disorder of glycosylation, type IIN
- OMIM:616828 Congenital disorder of glycosylation, type IIO
- OMIM:301045 Congenital disorder of glycosylation, type IIr
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:610768 Congenital disorder of glycosylation, type Im
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614507 Congenital disorder of glycosylation, type IR
- OMIM:614921 Congenital disorder of glycosylation, type It
- ORPHA:292 Congenital enterovirus infection
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:99095 Congenital Gerbode defect
- OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy
- ORPHA:442 Congenital hypothyroidism
- ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- ORPHA:199296 Congenital isolated ACTH deficiency
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:1954 Congenital lethal erythroderma
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:1928 Congenital lobar emphysema
- ORPHA:93109 Congenital megacalycosis
- ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- 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:79394 Congenital non-bullous ichthyosiform erythroderma
- ORPHA:313906 Congenital pancreatic cyst
- ORPHA:617 Congenital primary megaureter
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:95459 Congenital tricuspid stenosis
- ORPHA:92050 Congenital tufting enteropathy
- OMIM:121270 Copper deficiency, familial benign
- OMIM:121300 Coproporphyria
- OMIM:613270 Corneal dystrophy, fuchs endothelial, 6
- OMIM:122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:122440 Corneodermatoosseous syndrome
- ORPHA:2041 Coronary arterial fistula
- OMIM:122460 Coronavirus 229E susceptibility
- 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:604931 Cortisone reductase deficiency 1
- OMIM:218040 Costello syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:616858 Cowden syndrome 7
- OMIM:120050 Coxsackievirus B3 susceptibility
- ORPHA:1525 Cranio-osteoarthropathy
- OMIM:218330 Cranioectodermal dysplasia
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:614378 Cranioectodermal dysplasia 4
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:54595 Craniopharyngioma
- OMIM:614188 Craniosynostosis and dental anomalies
- ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- ORPHA:205 Crigler-Najjar syndrome
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- ORPHA:2930 Cronkhite-Canada syndrome
- ORPHA:207 Crouzon syndrome
- OMIM:123500 Crouzon syndrome
- ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome
- OMIM:123550 Cryoglobulinemia, familial mixed
- ORPHA:91138 Cryoglobulinemic vasculitis
- OMIM:185020 Cryohydrocytosis
- ORPHA:1546 Cryptococcosis
- ORPHA:1302 Cryptogenic organizing pneumonia
- ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:176450 Currarino syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- ORPHA:280779 Cutaneous collagenous vasculopathy
- ORPHA:79455 Cutaneous mastocytoma
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- OMIM:219095 Cutaneous photosensitivity and colitis, lethal
- ORPHA:889 Cutaneous small vessel vasculitis
- OMIM:614564 Cutaneous telangiectasia and cancer syndrome, familial
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- OMIM:219400 Cyanosis and hepatic disease
- ORPHA:2686 Cyclic neutropenia
- OMIM:162800 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:1560 Cysticercosis
- OMIM:219800 Cystinosis, nephropathic
- OMIM:220100 Cystinuria
Disease code
Disease name
- OMIM:261515 D-bifunctional protein deficiency
- ORPHA:300536 DDOST-CDG
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- OMIM:221320 Deafness, conductive, with ptosis and skeletal anomalies
- OMIM:221700 Deafness, neural, with atypical atopic dermatitis
- OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3202 Dehydrated hereditary stomatocytosis
- OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- OMIM:616689 Dehydrated hereditary stomatocytosis 2
- ORPHA:79134 DEND syndrome
- ORPHA:99828 Dengue fever
- ORPHA:1656 Dermatitis herpetiformis
- OMIM:603165 Dermatitis, atopic
- ORPHA:221 Dermatomyositis
- OMIM:221810 Dermatoosteolysis, Kirghizian type
- ORPHA:1657 Dermatoosteolysis, Kirghizian type
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- ORPHA:35107 Desmosterolosis
- OMIM:619777 Developmental and epileptic encephalopathy 100
- 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:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:222100 Diabetes mellitus, insulin-dependent-1
- OMIM:612227 Diabetes mellitus, ketosis-prone
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:618310 Diamond-Blackfan anemia 18
- OMIM:612527 Diamond-Blackfan anemia 4
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:612563 Diamond-Blackfan anemia 8
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- OMIM:614616 Diarrhea 6
- OMIM:616868 Diarrhea 8, secretory sodium, congenital
- ORPHA:628 Diastrophic dysplasia
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- OMIM:188400 Digeorge syndrome
- ORPHA:345 Dissecting cellulitis of the scalp
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:3379 Distal trisomy 17q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:223350 Dohle bodies and leukemia
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:246200 Donohue syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:3426 Double outlet right ventricle
- ORPHA:79145 Dowling-Degos disease
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:79322 DPM1-CDG
- ORPHA:231 Dracunculiasis
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:231111 Drug-induced lupus erythematosus
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:237 Duplication of urethra
- ORPHA:239 Dyggve-Melchior-Clausen disease
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- OMIM:127350 Dyschondrosteosis and nephritis
- 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:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- OMIM:224250 Dysmyelination with jaundice
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa
Disease code
Disease name
- ORPHA:40923 Eales disease
- ORPHA:1935 Early myoclonic encephalopathy
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:319218 Ebola hemorrhagic fever
- OMIM:129150 Echo virus 11 sensitivity
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- OMIM:617337 Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type
- OMIM:618535 Ectodermal dysplasia 15, Hypohidrotic/hair type
- OMIM:300291 Ectodermal dysplasia and immunodeficiency 1
- 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:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation 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:1896 EEC 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:130080 Ehlers-Danlos syndrome, periodontal type, 1
- OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:97214 Eisenmenger syndrome
- ORPHA:228240 Elastoderma
- ORPHA:79148 Elastosis perforans serpiginosa
- OMIM:611804 Elliptocytosis 1
- ORPHA:289 Ellis Van Creveld syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- ORPHA:83600 Encephalitis lethargica
- OMIM:619441 Encephalitis, acute, infection (viral)-induced, susceptibility to, 11
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- ORPHA:139406 Encephalopathy due to prosaposin deficiency
- OMIM:610551 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
- OMIM:619396 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
- OMIM:614850 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6
- OMIM:616532 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
- OMIM:617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
- OMIM:608033 Encephalopathy, acute, infection-induced, susceptibility to, 3
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:619218 ENDOVE syndrome, limb-brain type
- OMIM:619217 Endove syndrome, Limb-Only type
- OMIM:226150 ENTEROCOLITIS
- OMIM:600351 Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
- ORPHA:85438 Enthesitis-related juvenile idiopathic arthritis
- OMIM:261500 Eosinophil peroxidase deficiency
- OMIM:131400 Eosinophilia, familial
- ORPHA:3165 Eosinophilic fasciitis
- OMIM:226350 Eosinophilic fasciitis
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- OMIM:131430 EOSINOPHILOPENIA
- ORPHA:302 Epidermodysplasia verruciformis
- OMIM:618231 Epidermodysplasia verruciformis 2
- OMIM:618307 Epidermodysplasia verruciformis, susceptibility to, 4
- OMIM:618309 Epidermodysplasia verruciformis, susceptibility to, 5
- ORPHA:46487 Epidermolysis bullosa acquisita
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:113800 Epidermolytic hyperkeratosis
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:618876 Epilepsy, progressive myoclonic, 11
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618721 Epileptic encephalopathy, early infantile, 82
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- ORPHA:293381 Epithelial recurrent erosion dystrophy
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:222 Erosive pustular dermatosis of the scalp
- ORPHA:90000 Erythema elevatum diutinum
- OMIM:132990 Erythema nodosum, familial
- OMIM:133020 Erythermalgia, primary
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:222800 Erythrocytosis, familial, 8
- ORPHA:314 Erythroderma desquamativum
- OMIM:615508 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige
- OMIM:609165 Erythroderma, ichthyosiform, congenital reticular
- OMIM:227090 Erythroderma, lethal congenital
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:133200 Erythrokeratodermia variabilis et progressiva 1
- OMIM:618531 Erythrokeratodermia veriabilis et progressiva 6
- OMIM:133180 Erythroleukemia, familial, susceptibility to
- ORPHA:1199 Esophageal atresia
- OMIM:610247 Esophagitis, eosinophilic, 1
- OMIM:613412 Esophagitis, eosinophilic, 2
- ORPHA:3318 Essential thrombocythemia
- OMIM:615363 Estrogen resistance
- ORPHA:785 Estrogen resistance syndrome
- ORPHA:1959 Evans syndrome
- OMIM:616854 Even-Plus syndrome
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- ORPHA:494424 Extracranial carotid artery aneurysm
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Disease code
Disease name
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- OMIM:619477 Facioscapulohumeral muscular dystrophy 3, digenic
- ORPHA:306550 FADD-related immunodeficiency
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:733 Familial adenomatous polyposis
- ORPHA:615 Familial atrial myxoma
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:444490 Familial chylomicronemia syndrome
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- ORPHA:1764 Familial dysautonomia
- ORPHA:99819 Familial gestational hyperthyroidism
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:424 Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:405 Familial hypocalciuric hypercalcemia
- OMIM:615861 Familial idiopathic steroid-resistant nephrotic syndrome
- ORPHA:154 Familial isolated dilated cardiomyopathy
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- ORPHA:3000 Familial male-limited precocious puberty
- ORPHA:342 Familial Mediterranean fever
- OMIM:134610 Familial Mediterranean fever, AD
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:618 Familial melanoma
- ORPHA:922 Familial nasal acilia
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:79084 Familial partial lipodystrophy, Köbberling type
- ORPHA:79147 Familial reactive perforating collagenosis
- ORPHA:69076 Familial renal glucosuria
- ORPHA:71493 Familial thrombocytosis
- ORPHA:53715 Familial tumoral calcinosis
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614082 Fanconi anemia, complementation group G
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:617243 Fanconi anemia, complementation group V
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:227850 Fanconi-Like syndrome
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:163703 Febrile infection-related epilepsy syndrome
- OMIM:153640 Fechtner syndrome
- ORPHA:1305 Feingold syndrome
- OMIM:164280 Feingold syndrome 1
- ORPHA:391641 Feingold syndrome type 1
- OMIM:134750 Felty syndrome
- ORPHA:47612 Felty syndrome
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:294 Fetal cytomegalovirus syndrome
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:313855 FGFR2-related bent bone dysplasia
- OMIM:228800 Fibrosclerosis, multifocal
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:79292 Fish-eye disease
- ORPHA:293812 Fixed drug eruption
- ORPHA:3092 Fixed subaortic stenosis
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:83451 Florid cemento-osseous dysplasia
- ORPHA:2045 FLOTCH syndrome
- ORPHA:398189 Focal facial dermal dysplasia type IV
- ORPHA:48918 Focal myositis
- OMIM:256020 Focal segmental glomerulosclerosis 10
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- ORPHA:79093 Foix-Alajouanine syndrome
- OMIM:229050 Folate malabsorption, hereditary
- ORPHA:545 Follicular lymphoma
- OMIM:612289 Fontaine progeroid syndrome
- OMIM:229100 Formiminotransferase deficiency
- ORPHA:2795 Fowler urethral sphincter dysfunction syndrome
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:834 Free sialic acid storage disease
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:229850 Fryns syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:228119 Fusariosis
Disease code
Disease name
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:90041 Gaisböck syndrome
- ORPHA:79237 Galactokinase deficiency
- ORPHA:79238 Galactose epimerase deficiency
- OMIM:230350 Galactose epimerase deficiency
- ORPHA:570422 Galactose mutarotase deficiency
- ORPHA:352 Galactosemia
- OMIM:256540 Galactosialidosis
- OMIM:600803 Gallbladder disease 1
- ORPHA:100086 Gallbladder neuroendocrine tumor
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:618348 Galloway-Mowat syndrome 7
- OMIM:137050 Gamma-A-Globulin, defect in assembly of
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- OMIM:109350 Gastroesophageal reflux
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- ORPHA:44890 Gastrointestinal stromal tumor
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- ORPHA:77260 Gaucher disease type 2
- ORPHA:77261 Gaucher disease type 3
- OMIM:610539 Gaucher disease, atypical
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:230800 Gaucher disease, type I
- OMIM:230900 Gaucher disease, type II
- OMIM:231000 Gaucher disease, type III
- OMIM:231005 Gaucher disease, type IIIC
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- ORPHA:438274 GCGR-related hyperglucagonemia
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:157991 Generalized eruptive histiocytosis
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:786 Generalized glucocorticoid resistance syndrome
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- OMIM:231070 Geroderma osteodysplasticum
- OMIM:231095 Ghosal hematodiaphyseal dysplasia
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- ORPHA:397 Giant cell arteritis
- ORPHA:358 Gitelman syndrome
- ORPHA:568051 GJC2-related late-onset primary lymphedema
- OMIM:616568 Glioma susceptibility 9
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- OMIM:137900 Globulin anomaly involving beta (2a)-globulin
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- OMIM:202200 Glucocorticoid deficiency 1
- OMIM:612126 Glut1 deficiency syndrome 2
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- OMIM:610015 Glutamine deficiency, congenital
- ORPHA:32 Glutathione synthetase deficiency
- OMIM:266130 Glutathione synthetase deficiency
- 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:366 Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232240 Glycogen storage disease Ic
- OMIM:232300 Glycogen storage disease II
- OMIM:232500 Glycogen storage disease IV
- OMIM:613027 Glycogen storage disease IXc
- OMIM:261750 Glycogen storage disease type IXb
- OMIM:611881 Glycogen storage disease XII
- OMIM:306000 Glycogen storage disease, type IXa1
- OMIM:232900 Glycoprotein storage disease
- OMIM:610293 Glycosylphosphatidylinositol deficiency
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:230600 GM1-gangliosidosis, type II
- OMIM:230650 GM1-gangliosidosis, type III
- OMIM:166260 Gnathodiaphyseal dysplasia
- ORPHA:53697 Gnathodiaphyseal dysplasia
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:169105 Good syndrome
- OMIM:233450 Goodpasture syndrome
- ORPHA:73 Gorham-Stout disease
- OMIM:602361 Gracile bone dysplasia
- ORPHA:39812 Graft versus host disease
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- OMIM:233670 Granulomatous disease with defect in neutrophil chemotaxis
- OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
- OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II
- ORPHA:33111 Granulomatous slack skin
- ORPHA:721 Gray platelet syndrome
- OMIM:139090 Gray platelet syndrome
- ORPHA:1426 Greenberg dysplasia
- OMIM:215140 Greenberg skeletal dysplasia
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- ORPHA:79477 Griscelli syndrome type 2
- OMIM:214450 Griscelli syndrome, type 1
- OMIM:607624 Griscelli syndrome, type 2
- OMIM:609227 Griscelli syndrome, type 3
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- OMIM:233810 Growth retardation, small and puffy hands and feet, and eczema
- ORPHA:2101 Grubben-de Cock-Borghgraef syndrome
Disease code
Disease name
- ORPHA:168569 H syndrome
- OMIM:245010 Haim-Munk syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:234350 Halothane hepatitis
- ORPHA:2438 Hand-foot-genital syndrome
- OMIM:140000 Hand-Foot-Genital syndrome
- OMIM:618892 Harderoporphyria
- OMIM:301068 Hardikar syndrome
- ORPHA:457 Harlequin ichthyosis
- ORPHA:2116 Hartnup disease
- OMIM:140300 Hashimoto thyroiditis
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:600263 Helicobacter pylori infection, susceptibility to
- OMIM:615873 Helsmoortel-van der Aa syndrome
- OMIM:614034 Heme oxygenase-1 deficiency
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- OMIM:235200 Hemochromatosis, type 1
- OMIM:602390 Hemochromatosis, type 2A
- OMIM:613313 Hemochromatosis, type 2B
- OMIM:604250 Hemochromatosis, type 3
- ORPHA:231242 Hemoglobin C-beta-thalassemia syndrome
- ORPHA:90039 Hemoglobin D disease
- ORPHA:2133 Hemoglobin E disease
- ORPHA:231249 Hemoglobin E-beta-thalassemia syndrome
- OMIM:613978 Hemoglobin H disease
- ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency
- OMIM:300908 Hemolytic anemia, G6PD deficient (favism)
- OMIM:613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency
- OMIM:235700 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
- OMIM:619462 Hemolytic disease of fetus and newborn, RH-induced
- OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1
- OMIM:612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2
- OMIM:612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3
- OMIM:612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5
- OMIM:267700 Hemophagocytic lymphohistiocytosis, familial, 1
- OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2
- OMIM:608898 Hemophagocytic lymphohistiocytosis, familial, 3
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- ORPHA:158048 Hemophagocytic syndrome associated with an infection
- 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:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- OMIM:114550 Hepatocellular carcinoma
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:64743 Hepatoportal sclerosis
- OMIM:619902 Hepatorenocardiac degenerative fibrosis
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:676 Hereditary chronic pancreatitis
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:3197 Hereditary hyperekplexia
- ORPHA:90117 Hereditary motor and sensory neuropathy, Okinawa type
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- ORPHA:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- ORPHA:158025 Hereditary progressive mucinous histiocytosis
- 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:822 Hereditary spherocytosis
- ORPHA:3467 Hereditary xanthinuria
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:614075 Hermansky-Pudlak syndrome 6
- OMIM:614171 Hermansky-Pudlak syndrome 9
- ORPHA:1930 Herpes simplex virus encephalitis
- ORPHA:137599 Herpes simplex virus stromal keratitis
- 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:605376 Heterotaxy, visceral, 2, autosomal
- OMIM:613751 Heterotaxy, visceral, 4, autosomal
- OMIM:270100 Heterotaxy, visceral, 5
- OMIM:616749 Heterotaxy, visceral, 7, autosomal
- OMIM:618948 Heterotaxy, visceral, 9, autosomal, with male infertility
- OMIM:300049 Heterotopia, periventricular, X-linked dominant
- ORPHA:84085 Hinman syndrome
- ORPHA:388 Hirschsprung disease
- OMIM:142623 Hirschsprung disease, susceptibility to, 1
- OMIM:235900 Histiocytosis, familial lipochrome
- OMIM:142630 Histiocytosis, progressive mucinous
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:79242 Holocarboxylase synthetase deficiency
- OMIM:253270 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:614226 Holoprosencephaly 11
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:3322 Hoyeraal-Hreidarsson syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:2177 Hydranencephaly
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- ORPHA:79155 Hydroxykynureninuria
- OMIM:260920 Hyper-Igd syndrome
- 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:237800 Hyperbilirubinemia, shunt, primary
- ORPHA:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- OMIM:615947 Hyperlipoproteinemia, type ID
- ORPHA:2203 Hyperlysinemia
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:145001 Hyperparathyroidism 2
- OMIM:239200 Hyperparathyroidism, neonatal severe
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239840 Hypertrichosis, congenital anterior cervical, with peripheral sensory
- OMIM:614480 Hypertriglyceridemia, transient infantile
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:614441 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:601979 Hyperzincemia with functional zinc depletion
- OMIM:145980 Hypocalciuric hypercalcemia, familial, type I
- OMIM:145981 Hypocalciuric hypercalcemia, familial, type II
- OMIM:600740 Hypocalciuric hypercalcemia, familial, type III
- 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:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:248250 Hypomagnesemia 3, renal
- OMIM:248190 Hypomagnesemia 5, renal, with or without ocular involvement
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:437 Hypophosphatemic rickets
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:722 Hypoplasminogenemia
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- ORPHA:90368 Hypotrichosis simplex of the scalp
- ORPHA:1573 Hypotrichosis with juvenile macular degeneration
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
Disease code
Disease name
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- ORPHA:79503 Ichthyosis hystrix of Curth-Macklin
- OMIM:608649 Ichthyosis prematurity syndrome
- OMIM:146700 Ichthyosis vulgaris
- OMIM:242300 Ichthyosis, congenital, autosomal recessive 1
- OMIM:615024 Ichthyosis, congenital, autosomal recessive 10
- OMIM:602400 Ichthyosis, congenital, autosomal recessive 11
- OMIM:617574 Ichthyosis, congenital, autosomal recessive 13
- OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A
- OMIM:604777 Ichthyosis, congenital, autosomal recessive 5
- OMIM:612281 Ichthyosis, congenital, autosomal recessive 6
- OMIM:615022 Ichthyosis, congenital, autosomal recessive 7
- OMIM:615023 Ichthyosis, congenital, autosomal recessive 9
- OMIM:619016 Ichthyosis, follicular, with atrichia and photophobia syndrome 2
- OMIM:242520 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration
- OMIM:602540 Ichthyosis, hystrix-like, with deafness
- OMIM:607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- ORPHA:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- ORPHA:88621 Ichthyosis-prematurity syndrome
- ORPHA:930 Idiopathic achalasia
- ORPHA:724 Idiopathic acute eosinophilic pneumonia
- ORPHA:88 Idiopathic aplastic anemia
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:1320 Idiopathic camptocormia
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:90158 Idiopathic localized lipodystrophy
- ORPHA:567544 Idiopathic non-lupus full-house nephropathy
- ORPHA:99931 Idiopathic pulmonary hemosiderosis
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- ORPHA:79153 Idiopathic trachyonychia
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- OMIM:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
- OMIM:613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2
- ORPHA:555905 IgA pemphigus
- OMIM:147050 Ige responsiveness, atopic
- ORPHA:449400 IgG4-related aortitis
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:49041 IgG4-related retroperitoneal fibrosis
- ORPHA:449432 IgG4-related submandibular gland disease
- ORPHA:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- OMIM:242700 Immune defect due to absence of thymus
- OMIM:146830 Immune deficiency, familial variable
- ORPHA:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- OMIM:146850 Immune suppression
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:612783 Immunodeficiency 10
- OMIM:619872 Immunodeficiency 101 (varicella zoster virus-specific)
- OMIM:301082 Immunodeficiency 102
- OMIM:619924 Immunodeficiency 105, severe combined
- OMIM:619935 Immunodeficiency 106, susceptibility to viral infections
- OMIM:619986 Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
- OMIM:260570 Immunodeficiency 108 with autoinflammation
- OMIM:617638 Immunodeficiency 11B with atopic dermatitis
- OMIM:615468 Immunodeficiency 12
- OMIM:615518 Immunodeficiency 13
- OMIM:615513 Immunodeficiency 14
- OMIM:619281 Immunodeficiency 14B, autosomal recessive
- OMIM:615592 Immunodeficiency 15
- OMIM:618204 Immunodeficiency 15A
- OMIM:615593 Immunodeficiency 16
- OMIM:615607 Immunodeficiency 17
- OMIM:615615 Immunodeficiency 18
- OMIM:615617 Immunodeficiency 19
- OMIM:615707 Immunodeficiency 20
- OMIM:614172 Immunodeficiency 21
- 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:615978 Immunodeficiency 27B
- OMIM:614889 Immunodeficiency 28
- OMIM:614890 Immunodeficiency 29
- OMIM:614891 Immunodeficiency 30
- OMIM:614892 Immunodeficiency 31A
- OMIM:614162 Immunodeficiency 31C
- OMIM:614893 Immunodeficiency 32A
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:300636 Immunodeficiency 33
- OMIM:611521 Immunodeficiency 35
- OMIM:616005 Immunodeficiency 36
- OMIM:616098 Immunodeficiency 37
- OMIM:616126 Immunodeficiency 38 with basal ganglia calcification
- OMIM:616345 Immunodeficiency 39
- OMIM:616433 Immunodeficiency 40
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:616622 Immunodeficiency 42
- OMIM:241600 Immunodeficiency 43
- OMIM:616636 Immunodeficiency 44
- OMIM:616669 Immunodeficiency 45
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- 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:617827 Immunodeficiency 55
- 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:618847 Immunodeficiency 66
- OMIM:607676 Immunodeficiency 67
- OMIM:612260 Immunodeficiency 68
- OMIM:618963 Immunodeficiency 69, mycobacteriosis
- OMIM:618969 Immunodeficiency 70
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:618982 Immunodeficiency 72 with autoinflammation
- OMIM:608203 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
- OMIM:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- OMIM:618987 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
- OMIM:301051 Immunodeficiency 74, COVID19-related, X-linked
- 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:619313 Immunodeficiency 80 with or without cardiomyopathy
- OMIM:619374 Immunodeficiency 81
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:613002 Immunodeficiency 83, susceptibility to viral infections
- OMIM:619437 Immunodeficiency 84
- OMIM:619510 Immunodeficiency 85 and autoimmunity
- OMIM:619549 Immunodeficiency 86, mycobacteriosis
- 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:301078 Immunodeficiency 98 with autoinflammation, X-linked
- 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:606843 Immunodeficiency with hyper-igm, type 3
- 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:616873 Immunodeficiency, common variable, 13
- 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:242870 Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
- OMIM:308220 Immunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein
- 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:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- OMIM:304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
- OMIM:242880 Immunoerythromyeloid hypoplasia
- OMIM:137100 Immunoglobulin A deficiency 1
- OMIM:609529 Immunoglobulin A deficiency 2
- ORPHA:761 Immunoglobulin A vasculitis
- OMIM:242890 Immunoglobulin D level in plasma, low
- OMIM:614102 Immunoglobulin kappa light chain deficiency
- OMIM:308250 Immunoglobulin M, level of
- OMIM:300076 Immunoneurologic disorder, X-linked
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome
- OMIM:615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
- ORPHA:611 Inclusion body myositis
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- ORPHA:98848 Indolent systemic mastocytosis
- ORPHA:70587 Infant acute respiratory distress syndrome
- ORPHA:178478 Infant botulism
- ORPHA:206436 Infantile Krabbe disease
- OMIM:618641 Infantile liver failure syndrome 3
- ORPHA:35069 Infantile neuroaxonal dystrophy
- ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:2176 Infantile systemic hyalinosis
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:544482 Infection-related hemolytic uremic syndrome
- OMIM:613759 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
- OMIM:619079 Inflammatory bowel disease (Crohn disease) 30
- OMIM:619398 Inflammatory bowel disease (infantile ulcerative colitis) 31
- OMIM:266600 Inflammatory bowel disease 1, Crohn disease
- OMIM:191390 Inflammatory bowel disease 11
- OMIM:612244 Inflammatory bowel disease 13
- OMIM:612278 Inflammatory bowel disease 19
- OMIM:612354 Inflammatory bowel disease 21
- OMIM:612567 Inflammatory bowel disease 25, early onset, autosomal recessive
- OMIM:613148 Inflammatory bowel disease 28, early onset, autosomal recessive
- OMIM:618077 Inflammatory bowel disease 29
- OMIM:604519 Inflammatory bowel disease 3
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- ORPHA:90003 Inflammatory pseudotumor of the liver
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- OMIM:616069 Inflammatory skin and bowel disease, neonatal, 2
- ORPHA:247257 Inhalational anthrax
- OMIM:243080 Inosine phosphorylase deficiency, immune defect due to
- OMIM:256800 Insensitivity to pain, congenital, with anhidrosis
- ORPHA:411593 Insulin autoimmune syndrome
- ORPHA:2298 Insulin-resistance syndrome type B
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
- 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:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:620007 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:617600 Intellectual developmental disorder, autosomal dominant 45
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:611091 Intellectual developmental disorder, autosomal recessive 5
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:301076 Intellectual developmental disorder, X-linked, syndromic, Pilorge type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome
- ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- OMIM:243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:279914 Intermediate uveitis
- ORPHA:37202 Interstitial cystitis
- ORPHA:79099 Interstitial granulomatous dermatitis with arthritis
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:563609 Isolated anencephaly
- ORPHA:30391 Isolated biliary atresia
- ORPHA:199302 Isolated cleft lip
- ORPHA:91416 Isolated congenital alacrima
- ORPHA:217059 Isolated congenital digital clubbing
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- ORPHA:79144 Isolated congenital onychodysplasia
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:457083 Isolated splenogonadal fusion
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- ORPHA:2306 Isotretinoin-like syndrome
- OMIM:243500 Isovaleric acidemia
- ORPHA:2307 IVIC syndrome
- OMIM:147750 Ivic syndrome
Disease code
Disease name
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:79139 Japanese encephalitis
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:33314 Jessner lymphocytic infiltration of the skin
- OMIM:300804 Joubert syndrome 10
- OMIM:616784 Joubert syndrome 26
- OMIM:618161 Joubert syndrome 35
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia
- ORPHA:2321 Jung syndrome
- OMIM:618795 Juvenile arthritis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:92 Juvenile idiopathic arthritis
- OMIM:607785 Juvenile myelomonocytic leukemia
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:2929 Juvenile polyposis syndrome
- ORPHA:93399 Juvenile sialidosis type 2
- ORPHA:26137 Juvenile temporal arteritis
- ORPHA:158000 Juvenile xanthogranuloma
Disease code
Disease name
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- ORPHA:2330 Kasabach-Merritt syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- OMIM:244460 Kenny-caffey syndrome, type 1
- ORPHA:435628 Keppen-Lubinsky syndrome
- OMIM:148190 Keratitis, hereditary
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:244600 Keratoconus posticus circumscriptus
- OMIM:244850 Keratoderma, palmoplantar, norrbotten Recessive type
- OMIM:148200 Keratoendotheliitis fugax hereditaria
- ORPHA:50943 Keratolytic winter erythema
- OMIM:612843 Keratosis follicularis spinulosa decalvans, autosomal dominant
- OMIM:308800 Keratosis follicularis spinulosa decalvans, X-linked
- ORPHA:499 Kerion celsi
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- ORPHA:477 KID syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- ORPHA:482 Kimura disease
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- ORPHA:99978 Klatskin tumor
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- OMIM:156550 Kniest dysplasia
- ORPHA:1571 Knobloch syndrome
- 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:245200 Krabbe disease
- ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma
- OMIM:619762 Kury-Isidor syndrome
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Disease code
Disease name
- ORPHA:79314 L-2-hydroxyglutaric aciduria
- OMIM:149700 Lacrimal duct defect
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- ORPHA:501 Lafora disease
- ORPHA:1296 Lambert syndrome
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- ORPHA:313 Lamellar ichthyosis
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- ORPHA:98818 Landau-Kleffner syndrome
- OMIM:608545 Larsen-Like syndrome
- ORPHA:100083 Laryngeal neuroendocrine tumor
- OMIM:150360 Laryngeal web, familial
- ORPHA:2004 Laryngotracheoesophageal cleft
- ORPHA:93941 Laryngotracheoesophageal cleft type 4
- ORPHA:1202 Larynx atresia
- ORPHA:99824 Lassa fever
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:601086 Laterality defects, autosomal dominant
- OMIM:607330 Lathosterolosis
- ORPHA:330015 Lead poisoning
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:507 Leishmaniasis
- OMIM:602068 Leishmaniasis, tegumentary
- ORPHA:548 Leprosy
- OMIM:246300 Leprosy, susceptibility to
- OMIM:614962 Leptin deficiency or dysfunction
- OMIM:614963 Leptin receptor deficiency
- ORPHA:509 Leptospirosis
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:617022 Lethal congenital contracture syndrome 10
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- OMIM:246400 Letterer-Siwe disease
- OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1
- OMIM:151380 Leukemia, acute monocytic
- OMIM:246470 Leukemia, acute myelocytic, with polyposis coli and colon cancer
- OMIM:601626 Leukemia, acute myeloid
- OMIM:308960 Leukemia, acute, ?x-linked
- OMIM:151400 Leukemia, chronic lymphocytic
- OMIM:608232 Leukemia, chronic myeloid
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:116920 Leukocyte adhesion deficiency, type I
- OMIM:612840 Leukocyte adhesion deficiency, type III
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- ORPHA:2387 Leukonychia totalis
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- ORPHA:525 Lichen planopilaris
- ORPHA:254478 Lichen planus pemphigoides
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:69085 Limb-mammary syndrome
- ORPHA:171673 Limbal stem cell deficiency
- ORPHA:220402 Limited cutaneous systemic sclerosis
- ORPHA:140933 Linear atrophoderma of Moulin
- ORPHA:46488 Linear IgA dermatosis
- OMIM:246650 Lipase deficiency, combined
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:612526 Lipodystrophy, congenital generalized, type 3
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- OMIM:608600 Lipodystrophy, familial partial, type 1
- OMIM:151660 Lipodystrophy, familial partial, type 2
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608709 Lipodystrophy, partial, acquired, susceptibility to
- OMIM:613913 Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis
- ORPHA:530 Lipoid proteinosis
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:533 Listeriosis
- ORPHA:542643 Livedoid vasculopathy
- OMIM:619991 Liver disease, severe congenital
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:158673 Localized dystrophic epidermolysis bullosa, acral form
- 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:615582 Loeys-Dietz syndrome 5
- OMIM:618447 Long QT syndrome 8
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- ORPHA:90283 Lupus erythematosus tumidus
- OMIM:616831 Luscan-Lumish syndrome
- ORPHA:91546 Lyme disease
- OMIM:152800 Lymphangiectasia, intestinal
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:153100 Lymphatic malformation 1
- OMIM:620014 Lymphatic malformation 12
- OMIM:619319 Lymphatic malformation 9
- OMIM:613480 Lymphedema, hereditary, IC
- OMIM:153200 Lymphedema, hereditary, II
- OMIM:616843 Lymphedema, hereditary, III
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- OMIM:247640 Lymphoblastic leukemia, acute, with lymphomatous features
- OMIM:247430 Lymphoblastic transformation, inhibition of
- OMIM:247450 Lymphoblastic transformation, intrinsic defect in
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:247630 Lymphoid system deterioration, progressive
- OMIM:247650 Lymphokine deficiency
- OMIM:236000 Lymphoma, hodgkin
- OMIM:247800 Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis
- OMIM:613011 Lymphoproliferative syndrome 1
- OMIM:615122 Lymphoproliferative syndrome 2
- OMIM:618261 Lymphoproliferative syndrome 3
- 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
- OMIM:278000 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:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:153600 Macroglobulinemia, Waldenstrom, somatic
- ORPHA:158061 Macrophage activation syndrome
- OMIM:248100 Macrosomia adiposa congenita
- OMIM:248110 Macrosomia with microphthalmia, lethal
- ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome
- OMIM:155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:79457 Maculopapular cutaneous mastocytosis
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:619290 Mahvash disease
- OMIM:609628 Majeed syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:87503 Mal de Meleda
- ORPHA:556 Malakoplakia
- ORPHA:679 Malignant atrophic papulosis
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:168811 Malignant peritoneal mesothelioma
- ORPHA:52417 MALT lymphoma
- OMIM:602562 Mandibulofacial dysostosis with macroblepharon and macrostomia
- OMIM:614372 Mannose-Binding lectin deficiency
- OMIM:248510 Mannosidosis, beta
- ORPHA:52416 Mantle cell lymphoma
- OMIM:248600 Maple syrup urine disease
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:248760 Marfanoid habitus with microcephaly and glomerulonephritis
- ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
- OMIM:154780 Marshall syndrome
- OMIM:602535 Marshall-Smith syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:613791 Masp2 deficiency
- ORPHA:66661 Mast cell sarcoma
- ORPHA:98292 Mastocytosis
- OMIM:154800 Mastocytosis, cutaneous
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:2470 Matthew-Wood syndrome
- ORPHA:562 McCune-Albright syndrome
- OMIM:300842 Mcleod syndrome
- ORPHA:3097 Meacham syndrome
- OMIM:608978 Meacham syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:267010 Meckel syndrome, type 7
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:1332 Medullary thyroid carcinoma
- ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:601775 Megaloblastic anemia, folate-responsive
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- ORPHA:90186 Meige disease
- ORPHA:550 MELAS
- ORPHA:31202 Melioidosis
- ORPHA:2483 Melkersson-Rosenthal syndrome
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- OMIM:305800 Membranoproliferative glomerulonephritis, X-linked
- ORPHA:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- ORPHA:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
- ORPHA:2494 Ménétrier disease
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- ORPHA:565 Menkes disease
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:309480 Mental retardation associated with psoriasis
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism
- OMIM:606772 Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:309545 Mental retardation, X-linked, syndromic 12
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- OMIM:250420 Metaphyseal dysostosis, mental retardation, and conductive deafness
- ORPHA:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- OMIM:250460 Metaphyseal dysplasia without hypotrichosis
- ORPHA:2169 Methylcobalamin deficiency type cblE
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- 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:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:79329 MGAT2-CDG
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:2538 Microgastria-limb reduction defect syndrome
- OMIM:156810 Microgastria-Limb reduction defects association
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- ORPHA:1083 Microlissencephaly
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- ORPHA:100084 Middle ear neuroendocrine tumor
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:79452 Milroy disease
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:617053 Mirage syndrome
- ORPHA:521219 Mirizzi syndrome
- ORPHA:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome
- OMIM:276300 Mismatch repair cancer syndrome 1
- OMIM:619096 Mismatch repair cancer syndrome 2
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:124000 Mitochondrial complex III deficiency, nuclear type 1
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619063 Mitochondrial complex IV deficiency, nuclear type 19
- OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:619780 Mitochondrial DNA depletion syndrome 20 (MNGIE type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- ORPHA:809 Mixed connective tissue disease
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:552 MODY
- ORPHA:570 Moebius syndrome
- ORPHA:79330 MOGS-CDG
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:252250 Monocyte chemotactic disorder
- ORPHA:65684 Monomelic amyotrophy
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:99226 Monosomy X
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- ORPHA:99228 Mosaic monosomy X
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- 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:100024 Mu-heavy chain disease
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:618287 Mucocutaneous ulceration, chronic
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA: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:601492 Mucopolysaccharidosis type IX
- 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
- ORPHA:46486 Mucous membrane pemphigoid
- OMIM:253240 Mucus inspissation of respiratory tract
- ORPHA:566943 Mueller-Weiss syndrome
- OMIM:602849 Muenke syndrome
- OMIM:253250 Mulibrey nanism
- OMIM:158330 Mullerian aplasia and hyperandrogenism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:139436 Multicentric reticulohistiocytosis
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- ORPHA:148 Multiple carboxylase deficiency
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM:131100 Multiple endocrine neoplasia 1
- ORPHA:652 Multiple endocrine neoplasia type 1
- ORPHA:653 Multiple endocrine neoplasia type 2
- ORPHA:276152 Multiple endocrine neoplasia type 4
- OMIM:610755 Multiple endocrine neoplasia, type IV
- OMIM:254500 Multiple myeloma
- ORPHA:29073 Multiple myeloma
- ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:253600 Muscular dystrophy, limb-girdle, type 2A
- OMIM:253700 Muscular dystrophy, limb-girdle, type 2C
- OMIM:254120 Muscular hypertonia, lethal
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia
- ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan
- OMIM:254200 Myasthenia gravis
- ORPHA:589 Myasthenia gravis
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:616227 Myasthenic syndrome, congenital, 15
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:601462 Myasthenic syndrome, congenital, 1A, slow-channel
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
- OMIM:616324 Myasthenic syndrome, congenital, 4B, fast-channel
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:254210 Myasthenic syndrome, congenital, 6, presynaptic
- ORPHA:2583 Mycetoma
- OMIM:613796 Mycobacterial and viral infections, susceptibility to, autosomal recessive
- OMIM:254400 Mycosis fungoides
- OMIM:600080 Myelocytic leukemia-like syndrome, familial, chronic
- OMIM:252270 Myelodysplasia and leukemia syndrome with monosomy 7
- ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
- OMIM:254450 Myelofibrosis with myeloid metaplasia, somatic
- OMIM:310350 Myelolymphatic insufficiency
- OMIM:254600 Myeloperoxidase deficiency
- OMIM:254700 Myeloproliferative disease, autosomal recessive
- OMIM:131440 Myeloproliferative disorder, chronic, with eosinophilia
- OMIM:159595 Myeloproliferative syndrome, transient
- OMIM:616871 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
- ORPHA:182050 MYH9-related disease
- ORPHA:247768 Müllerian aplasia and hyperandrogenism
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:160750 MYOSITIS
- ORPHA:99735 Myotonia permanens
- OMIM:255960 Myxoma, intracardiac
Disease code
Disease name
- OMIM:310465 N syndrome
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- ORPHA:2770 Nasu-Hakola disease
- ORPHA:542592 Necrobiosis lipoidica
- ORPHA:391673 Necrotizing enterocolitis
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome
- ORPHA:294023 Neonatal inflammatory skin and bowel disease
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:417 Neonatal severe primary hyperparathyroidism
- ORPHA:654 Nephroblastoma
- OMIM:616217 Nephronophthisis 19
- OMIM:613159 Nephronophthisis-Like nephropathy 1
- OMIM:619468 Nephronophthisis-like nephropathy 2
- OMIM:609057 Nephropathy with pretibial epidermolysis bullosa and deafness
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:256300 Nephrotic syndrome, type 1
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:617609 Nephrotic syndrome, type 15
- OMIM:617783 Nephrotic syndrome, type 16
- OMIM:619201 Nephrotic syndrome, type 23
- OMIM:615008 Nephrotic syndrome, type 7
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- OMIM:256550 Neuraminidase deficiency
- ORPHA:2481 Neurocutaneous melanocytosis
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:619971 Neurodevelopmental disorder with epilepsy and brain atrophy
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:620075 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
- 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:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:617523 Neurodevelopmental disorder with midbrain and hindbrain malformations
- OMIM:619157 Neurodevelopmental disorder with or without early-onset generalized epilepsy
- OMIM:618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain 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:638 Neurofibromatosis-Noonan syndrome
- ORPHA:94093 Neuroleptic malignant syndrome
- ORPHA:71211 Neuromyelitis optica spectrum disorder
- ORPHA:99811 Neuronal intestinal pseudoobstruction
- OMIM:162400 Neuropathy, hereditary sensory and autonomic, type IA
- OMIM:613640 Neuropathy, hereditary sensory and autonomic, type IC
- OMIM:613115 Neuropathy, hereditary sensory and autonomic, type IIB
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:608654 Neuropathy, hereditary sensory and autonomic, type V
- OMIM:616488 Neuropathy, hereditary sensory and autonomic, type VIII
- OMIM:613708 Neuropathy, hereditary sensory, type ID
- OMIM:614116 Neuropathy, hereditary sensory, type IE
- OMIM:615632 Neuropathy, hereditary sensory, type IF
- OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
- ORPHA:137596 Neurotrophic keratopathy
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- ORPHA:98908 Neutral lipid storage myopathy
- OMIM:162700 Neutropenia, chronic familial
- OMIM:257100 Neutropenia, lethal congenital, with eosinophilia
- OMIM:607847 Neutropenia, nonimmune chronic idiopathic, of adults
- OMIM:610738 Neutropenia, severe congenital 3, autosomal recessive
- OMIM:202700 Neutropenia, severe congenital, 1, autosomal dominant
- OMIM:613107 Neutropenia, severe congenital, 2, autosomal dominant
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- OMIM:615285 Neutropenia, severe congenital, 5, autosomal recessive
- OMIM:616022 Neutropenia, severe congenital, 6, autosomal recessive
- OMIM:617014 Neutropenia, severe congenital, 7, autosomal recessive
- OMIM:618752 Neutropenia, severe congenital, 8, autosomal dominant
- OMIM:619813 Neutropenia, severe congenital, 9, autosomal dominant
- OMIM:300299 Neutropenia, severe congenital, X-linked
- ORPHA:2690 Neutropenia-monocytopenia-deafness syndrome
- OMIM:257150 Neutrophil actin dysfunction
- ORPHA:183707 Neutrophil immunodeficiency syndrome
- OMIM:162830 Neutrophilia, hereditary
- OMIM:608068 Neutrophilic dermatosis, acute febrile
- OMIM:614323 Nevoid hypermelanosis, linear and whorled
- ORPHA:363558 New-onset refractory status epilepticus
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 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:257220 Niemann-pick disease, type C1
- OMIM:607625 Niemann-pick disease, type C2
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- ORPHA:99825 Nipah virus disease
- ORPHA:263665 NK-cell enteropathy
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:31204 Nocardiosis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:33577 Nodular non-suppurative panniculitis
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:618624 Noonan syndrome 12
- OMIM:619087 Noonan syndrome 13
- OMIM:619745 Noonan syndrome 14
- OMIM:605275 Noonan syndrome 2
- OMIM:609942 Noonan syndrome 3
- OMIM:613224 Noonan syndrome 6
- OMIM:615355 Noonan syndrome 8
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:649 Norrie disease
- ORPHA:443167 NUT midline carcinoma
Disease code
Disease name
- ORPHA:99965 O'Sullivan-McLeod syndrome
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- ORPHA:198 Occipital horn syndrome
- ORPHA:2704 Ochoa syndrome
- ORPHA:2714 Oculo-palato-cerebral syndrome
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:164200 Oculodentodigital dysplasia
- OMIM:618440 Oculoskeletodental syndrome
- OMIM:300855 Ogden syndrome
- ORPHA:2729 Okamoto syndrome
- OMIM:613949 Okt4 epitope deficiency
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:85410 Oligoarticular juvenile idiopathic arthritis
- ORPHA:296 Ollier disease
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:619269 Ondontochondrodysplasia 2 with hearing loss and diabetes
- OMIM:258360 Onychotrichodysplasia and neutropenia
- ORPHA:2745 Opitz GBBB syndrome
- ORPHA:2746 Opsismodysplasia
- OMIM:258480 Opsismodysplasia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- OMIM:165200 Optic atrophy with demyelinating disease of CNS
- ORPHA:664 Ornithine transcarbamylase deficiency
- OMIM:258865 Orofaciodigital syndrome IX
- ORPHA:2750 Orofaciodigital syndrome type 1
- ORPHA:2753 Orofaciodigital syndrome type 4
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:300484 Orofaciodigital syndrome VIII
- OMIM:258900 Orotic aciduria
- ORPHA:2760 OSLAM syndrome
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- OMIM:184260 Osteochondrodysplasia
- ORPHA:564003 Osteochondrosis of the metatarsal bone
- ORPHA:563991 Osteochondrosis of the tarsal bone
- OMIM:259270 Osteodysplasty, precocious, of danks, mayne, and kozlowski
- OMIM:619377 Osteootohepatoenteric syndrome
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:166600 Osteopetrosis, autosomal dominant 2
- OMIM:618107 Osteopetrosis, autosomal dominant 3
- OMIM:259700 Osteopetrosis, autosomal recessive 1
- OMIM:259710 Osteopetrosis, autosomal recessive 2
- OMIM:259730 Osteopetrosis, autosomal recessive 3
- OMIM:611490 Osteopetrosis, autosomal recessive 4
- OMIM:259720 Osteopetrosis, autosomal recessive 5
- OMIM:612301 Osteopetrosis, autosomal recessive 7
- OMIM:615085 Osteopetrosis, autosomal recessive 8
- OMIM:166760 Otitis media, susceptibility to
- ORPHA:2791 Otodental syndrome
- OMIM:615560 Otofaciocervical syndrome 2
- OMIM:215150 Otospondylomegaepiphyseal dysplasia
- ORPHA:314473 Ovarian fibroma
- ORPHA:314478 Ovarian fibrothecoma
- ORPHA:3203 Overhydrated hereditary stomatocytosis
- OMIM:185000 Overhydrated hereditary stomatocytosis
- ORPHA:206572 Overlap myositis
Disease code
Disease name
- OMIM:260100 Pa polymorphism of alpha-2-globulin
- ORPHA:2796 Pachydermoperiostosis
- OMIM:167210 Pachyonychia congenita 2
- OMIM:167300 Paget disease, extramammary
- ORPHA:991 PAGOD syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:144200 Palmoplantar keratoderma, epidermolytic
- OMIM:300918 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- OMIM:167800 Pancreatitis, hereditary
- ORPHA:677 Pancreatoblastoma
- ORPHA:66624 PANDAS
- OMIM:260470 Panencephalitis, subacute sclerosing
- ORPHA:95513 Panhypophysitis
- ORPHA:90159 Panniculitis-induced localized lipodystrophy
- ORPHA:678 Papillon-Lefèvre syndrome
- OMIM:245000 Papillon-Lefevre syndrome
- ORPHA:158008 Papular xanthoma
- ORPHA:63455 Paraneoplastic pemphigus
- ORPHA:231445 Paraparetic variant of Guillain-Barré syndrome
- ORPHA:143 Parathyroid carcinoma
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- ORPHA:90307 Parkes Weber syndrome
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- ORPHA:1330 Partial atrioventricular septal defect
- ORPHA:251004 Paternal uniparental disomy of chromosome 1
- ORPHA:93126 Pauci-immune glomerulonephritis
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:93552 Pediatric systemic lupus erythematosus
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:270300 Peeling skin syndrome 1
- ORPHA:2836 PEHO syndrome
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:702 Pelizaeus-Merzbacher disease
- OMIM:260650 Pellagra-Like syndrome
- ORPHA:79480 Pemphigus erythematosus
- ORPHA:79481 Pemphigus foliaceus
- ORPHA:704 Pemphigus vulgaris
- OMIM:169610 Pemphigus vulgaris, familial
- ORPHA:1335 Pentalogy of Cantrell
- ORPHA:11 Pentasomy X
- OMIM:260910 Perifolliculitis capitis abscedens et suffodiens, familial
- ORPHA:65250 Perineural cyst
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
- ORPHA:75392 Periodontal Ehlers-Danlos syndrome
- OMIM:170650 Periodontitis, aggressive, 1
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- ORPHA:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:168816 Peritoneal cystic mesothelioma
- OMIM:614885 Peroxisome biogenesis disorder 11B
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:214110 Peroxisome biogenesis disorder 2A (Zellweger)
- OMIM:614866 Peroxisome biogenesis disorder 5A (Zellweger)
- OMIM:221900 Persistent hyperplastic primary vitreous, autosomal recessive
- OMIM:606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS
- ORPHA:42642 PFAPA syndrome
- ORPHA:443811 PGM3-CDG
- ORPHA:209959 Phacoanaphylactic uveitis
- OMIM:606232 Phelan-Mcdermid syndrome
- OMIM:261600 Phenylketonuria
- ORPHA:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- OMIM:300661 Phosphoribosylpyrophosphate synthetase superactivity
- OMIM:301220 Pigmentary disorder, reticulate, with systemic manifestations, X-linked
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- OMIM:615830 Pigmented nodular adrenocortical disease, primary, 4
- OMIM:617682 Pilarowski-Bjornsson syndrome
- ORPHA:2890 Pili torti-onychodysplasia syndrome
- ORPHA:91414 Pilomatrixoma
- ORPHA:2896 Pitt-Hopkins syndrome
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- ORPHA:2897 Pityriasis rubra pilaris
- ORPHA:439167 Placental insufficiency
- ORPHA:707 Plague
- OMIM:217090 Plasminogen deficiency, type I
- OMIM:601399 Platelet disorder, familial, with associated myeloid malignancy
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:50251 Pleural mesothelioma
- ORPHA:79318 PMM2-CDG
- ORPHA:723 Pneumocystosis
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- OMIM:615704 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
- ORPHA:2911 Poland syndrome
- ORPHA:2912 Poliomyelitis
- ORPHA:767 Polyarteritis nodosa
- OMIM:613095 Polycystic kidney disease 2
- OMIM:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- OMIM:617610 Polycystic kidney disease 5
- ORPHA:729 Polycythemia vera
- OMIM:263300 Polycythemia vera
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- ORPHA:732 Polymyositis
- ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
- ORPHA:565899 POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:2524 Pontocerebellar hypoplasia type 2
- OMIM:617695 Pontocerebellar hypoplasia, type 11
- OMIM:618606 Pontocerebellar hypoplasia, type 13
- OMIM:619301 Pontocerebellar hypoplasia, type 14
- OMIM:619302 Pontocerebellar hypoplasia, type 15
- OMIM:619527 Pontocerebellar hypoplasia, type 16
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:618428 Popov-Chang syndrome
- ORPHA:101330 Porphyria cutanea tarda
- OMIM:176090 Porphyria cutanea tarda, type I
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- OMIM:263700 Porphyria, congenital erythropoietic
- OMIM:617068 Portal hypertension, noncirrhotic
- OMIM:619463 Portal hypertension, noncirrhotic, 2
- ORPHA:88628 Posterior column ataxia-retinitis pigmentosa syndrome
- ORPHA:93110 Posterior urethral valve
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:163921 Posttransplant acute limbic encephalitis
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- 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:275555 Preeclampsia
- ORPHA:90160 Pressure-induced localized lipoatrophy
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- ORPHA:186 Primary biliary cholangitis
- ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:48686 Primary effusion lymphoma
- ORPHA:90026 Primary erythromelalgia
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:93599 Primary hyperoxaluria type 2
- ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:90970 Primary lipodystrophy
- ORPHA:54370 Primary membranoproliferative glomerulonephritis
- ORPHA:824 Primary myelofibrosis
- ORPHA:168829 Primary peritoneal carcinoma
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- 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:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- ORPHA:352596 Progressive myoclonic epilepsy with dystonia
- ORPHA:1159 Progressive pseudorheumatoid arthropathy of childhood
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- OMIM:170100 Prolidase deficiency
- ORPHA:742 Prolidase deficiency
- OMIM:312060 Properdin deficiency, X-linked
- OMIM:606054 Propionic acidemia
- ORPHA:35 Propionic acidemia
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- OMIM:618048 Proteasome-Associated autoinflammatory syndrome 2
- OMIM:617591 Proteasome-Associated autoinflammatory syndrome 3
- OMIM:619183 Proteasome-associated autoinflammatory syndrome 4
- OMIM:619175 Proteasome-associated autoinflammatory syndrome 5
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:2969 Proteus-like syndrome
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- OMIM:177000 Protoporphyria, erythropoietic, 1
- ORPHA:2970 Prune belly syndrome
- ORPHA:64745 Pruritic urticarial papules and plaques of pregnancy
- OMIM:618886 Pseudo-Torch syndrome 3
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:264180 Pseudodiastrophic dysplasia
- OMIM:264350 Pseudohypoaldosteronism, type I, autosomal recessive
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- ORPHA:26790 Pseudomyxoma peritonei
- ORPHA:129 Pseudopelade of Brocq
- ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis
- OMIM:177900 Psoriasis 1, susceptibility to
- OMIM:614204 Psoriasis 14, pustular
- OMIM:616106 Psoriasis 15, pustular, susceptibility to
- OMIM:602723 Psoriasis 2
- ORPHA:85436 Psoriasis-related juvenile idiopathic arthritis
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- OMIM:610910 Pulmonary alveolar proteinosis, acquired
- ORPHA:2038 Pulmonary arteriovenous malformation
- ORPHA:64741 Pulmonary blastoma
- ORPHA:199241 Pulmonary capillary hemangiomatosis
- 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: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
- ORPHA:60026 Pulmonary nodular lymphoid hyperplasia
- ORPHA:411703 Pulmonary non-tuberculous mycobacterial infection
- OMIM:234810 Pulmonary venoocclusive disease 2
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- ORPHA:763 Pycnodysostosis
- ORPHA:48104 Pyoderma gangrenosum
- ORPHA:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- OMIM:604416 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
- ORPHA:764 Pyomyositis
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:266200 Pyruvate kinase deficiency of red cells
Disease code
Disease name
Disease code
Disease name
- ORPHA:770 Rabies
- ORPHA:769 Rabson-Mendenhall syndrome
- ORPHA:70475 Radiation proctitis
- OMIM:312210 Radiation sensitivity of natural killer activity
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- 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:129400 Rapp-Hodgkin syndrome
- ORPHA:535 Rare cutaneous lupus erythematosus
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:1929 Rasmussen subacute encephalitis
- ORPHA:31205 Rat-bite fever
- ORPHA:29207 Reactive arthritis
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:94125 Recessive mitochondrial ataxia syndrome
- ORPHA:96167 Recombinant 8 syndrome
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:60032 Recurrent respiratory papillomatosis
- OMIM:179700 Red cell phospholipid defect with hemolysis
- ORPHA:98826 Refractory anemia
- ORPHA:86839 Refractory anemia with excess blasts
- ORPHA:398063 Refractory celiac disease
- ORPHA:773 Refsum disease
- ORPHA:83450 Regional odontodysplasia
- ORPHA:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:93108 Renal dysplasia
- OMIM:161900 Renal failure, progressive, with hypertension
- ORPHA:93101 Renal hypoplasia
- OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- OMIM:267500 Reticular dysgenesia
- ORPHA:33355 Reticular dysgenesis
- OMIM:312500 Reticuloendotheliosis, X-linked
- OMIM:619446 Retinal dystrophy and microvillus inclusion disease
- OMIM:615147 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
- OMIM:267900 Retinal telangiectasia and hypogammaglobulinemia
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:180080 Retinal venous beading
- OMIM:312612 Retinitis pigmentosa 6
- OMIM:618955 Retinitis pigmentosa 89
- OMIM:616959 Retinitis pigmentosa and erythrocytic microcytosis
- OMIM:300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness
- OMIM:180200 RETINOBLASTOMA
- ORPHA:790 Retinoblastoma
- OMIM:613471 Reynolds syndrome
- ORPHA:779 Reynolds syndrome
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:69077 Rhabdoid tumor
- ORPHA:3099 Rheumatic fever
- OMIM:180300 Rheumatoid arthritis
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- ORPHA:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- OMIM:180350 Rheumatoid nodulosis
- OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5
- OMIM:618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- ORPHA:3098 Rhizomelic syndrome, Urbach type
- OMIM:611943 Riddle syndrome
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- OMIM:208530 Right atrial isomerism (Ivemark)
- ORPHA:97244 Rigid spine syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- OMIM:268300 Roberts syndrome
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman syndrome
- OMIM:613328 Roifman-Chitayat syndrome
- ORPHA:158014 Rosaï-Dorfman disease
- ORPHA:2909 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- OMIM:618625 Rothmund-thomson syndrome, type 1
- OMIM:180800 Roussy-Levy hereditary areflexic dystasia
- 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
- OMIM:600145 Sacral defect with anterior meningocele
- OMIM:604369 Salla disease
- OMIM:268800 Sandhoff disease
- ORPHA:796 Sandhoff disease
- ORPHA:309155 Sandhoff disease, infantile form
- ORPHA:71272 Sandifer syndrome
- ORPHA:2323 Sanjad-Sakati syndrome
- ORPHA:793 SAPHO syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:612387 Sarcoidosis, susceptibility to, 2
- ORPHA:576283 SATB2-associated syndrome due to a pathogenic variant
- OMIM:618150 Saul-Wilson syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- ORPHA:449280 Scedosporiosis
- ORPHA:93474 Scheie syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:37748 Schnitzler syndrome
- 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
- OMIM:617394 Sclerosing cholangitis, neonatal
- ORPHA:466677 Scorpion envenomation
- ORPHA:83317 Scrub typhus
- OMIM:269600 Sea-Blue histiocyte disease
- ORPHA:158029 Sea-blue histiocytosis
- OMIM:610227 Seborrhea-Like dermatitis with psoriasiform elements
- OMIM:617253 Seckel syndrome 10
- OMIM:616777 Seckel syndrome 9
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:399180 Secondary non-traumatic avascular necrosis
- ORPHA:95427 Secondary short bowel syndrome
- OMIM:269650 Secretory component deficiency
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:220386 Semilobar holoprosencephaly
- ORPHA:84081 Senior-Boichis syndrome
- ORPHA:217622 Sensorineural deafness with dilated cardiomyopathy
- ORPHA:90051 Sepsis in premature infants
- 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
- ORPHA:169095 Severe combined immunodeficiency due to FOXN1 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:300298 Severe congenital hypochromic anemia with ringed sideroblasts
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- ORPHA:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- ORPHA:411543 Severe phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:3078 Severe X-linked intellectual disability, Gustavson type
- ORPHA:3162 Sézary syndrome
- ORPHA:91355 Sheehan syndrome
- ORPHA:90038 Shiga toxin-associated hemolytic uremic syndrome
- ORPHA:810 Shigellosis
- ORPHA:66518 Short fifth metacarpals-insulin resistance syndrome
- OMIM:615789 Short stature with microcephaly and distinctive facies
- OMIM:617044 Short stature, developmental delay, and congenital heart defects
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay
- OMIM:614800 Short stature, optic nerve atrophy, and pelger-huet anomaly
- ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- OMIM:269880 Short syndrome
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- OMIM:208500 Short-Rib thoracic dysplasia 1 with or without polydactyly
- OMIM:615630 Short-Rib thoracic dysplasia 10 with or without polydactyly
- OMIM:615633 Short-Rib thoracic dysplasia 11 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- OMIM:617941 Shwachman-Diamond syndrome 2
- ORPHA:812 Sialidosis type 1
- ORPHA:87876 Sialidosis type 2
- OMIM:269921 Sialuria
- ORPHA:3166 Sialuria
- OMIM:603903 Sickle cell anemia
- ORPHA:232 Sickle cell anemia
- OMIM:616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- 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
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- OMIM:182250 Singleton-Merten syndrome 1
- OMIM:210250 Sitosterolemia 1
- OMIM:270150 Sjogren syndrome
- ORPHA:816 Sjögren-Larsson syndrome
- ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:617616 Skraban-Deardorff syndrome
- ORPHA:238459 SLC35A1-CDG
- ORPHA:356961 SLC35A2-CDG
- ORPHA:468699 SLC39A8-CDG
- ORPHA:284400 Small cell carcinoma of the bladder
- OMIM:616638 Smith-Kingsmore syndrome
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:820 Sneddon syndrome
- OMIM:182410 Sneddon syndrome
- ORPHA:97230 Solar urticaria
- OMIM:109270 Solute carrier family 4 (anion exchanger), member 1
- ORPHA:821 Sotos syndrome
- OMIM:117550 Sotos syndrome
- ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome
- OMIM:619621 Spastic paraplegia 84, autosomal recessive
- OMIM:601608 Spastic paraplegia and Evans syndrome
- ORPHA:99015 Spastic paraplegia type 2
- ORPHA:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- OMIM:245480 Specific granule deficiency
- OMIM:617475 Specific granule deficiency 2
- OMIM:182900 Spherocytosis, type 1
- OMIM:616649 Spherocytosis, type 2
- OMIM:612653 Spherocytosis, type 4
- OMIM:612690 Spherocytosis, type 5
- ORPHA:53721 Spinal arteriovenous metameric syndrome
- OMIM:159950 Spinal muscular atrophy with progressive myoclonic epilepsy
- OMIM:620011 Spinal muscular atrophy, distal, autosomal recessive, 6
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:133190 Spinocerebellar ataxia 34
- ORPHA:458803 Spinocerebellar ataxia type 42
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- OMIM:616354 Spinocerebellar ataxia, autosomal recessive 20
- OMIM:616719 Spinocerebellar ataxia, autosomal recessive 21
- OMIM:616949 Spinocerebellar ataxia, autosomal recessive 23
- OMIM:183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS
- OMIM:614979 Splenomegaly, cytopenia, and vision loss
- OMIM:271500 Splenoportal vascular anomalies
- ORPHA:93357 SPONASTRIME dysplasia
- OMIM:106300 Spondyloarthropathy, susceptibility to, 1
- OMIM:608681 Spondylocostal dysostosis 2, autosomal recessive
- OMIM:277300 Spondylocostal dysostosis, autosomal recessive 1
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:602557 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- ORPHA:93284 Spondyloepiphyseal dysplasia tarda
- OMIM:618618 Spondyloepiphyseal dysplasia, Nishimura type
- OMIM:271665 Spondylometaepiphyseal dysplasia, short Limb-Hand type
- OMIM:608940 Spondylometaphyseal dysplasia with cone-rod dystrophy
- OMIM:602271 Spondylometaphyseal dysplasia, axial
- ORPHA:29822 Spontaneous periodic hypothermia
- ORPHA:204 Sporadic Creutzfeldt-Jakob disease
- ORPHA:1665 Sporadic fetal brain disruption sequence
- 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:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- ORPHA:36426 Stevens-Johnson syndrome
- ORPHA:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- OMIM:611961 Stevenson-Carey syndrome
- ORPHA:828 Stickler syndrome
- ORPHA:3198 Stiff person spectrum disorder
- OMIM:184850 Stiff-Person syndrome
- OMIM:615934 STING-associated vasculopathy, infantile-onset
- OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects
- OMIM:185050 Storage pool platelet disease
- OMIM:185070 Stormorken syndrome
- ORPHA:3204 Stormorken-Sjaastad-Langslet syndrome
- OMIM:243605 Stromme 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:48377 Subcorneal pustular dermatosis
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- OMIM:618950 Suleiman-El-Hattab syndrome
- OMIM:272300 SULFOCYSTEINURIA
- OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2
- OMIM:614370 Surfactant metabolism dysfunction, pulmonary, 5
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:3243 Sweet syndrome
- ORPHA:306731 Sydenham chorea
- ORPHA:449291 Symptomatic form of fragile X syndrome in female carriers
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:98915 Synaptic congenital myasthenic syndromes
- ORPHA:84064 Syndromic diarrhea
- ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- ORPHA:188 Systemic capillary leak syndrome
- OMIM:152700 Systemic lupus erythematosus
- OMIM:614420 Systemic lupus erythematosus 16
- OMIM:301080 Systemic lupus erythematosus 17
- 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:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
- OMIM:614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS
- OMIM:618398 T-cell lymphoma, subcutaneous panniculitis-like
- OMIM:618806 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
- OMIM:615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
- ORPHA:3287 Takayasu arteritis
- OMIM:616737 Takenouchi-Kosaki syndrome
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- OMIM:205400 Tangier disease
- ORPHA:31150 Tangier disease
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- ORPHA:845 Tay-Sachs disease
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- ORPHA:284227 TEMPI syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- ORPHA:254531 Temple syndrome due to paternal 14q32.2 hypomethylation
- OMIM:616260 Tenorio syndrome
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- ORPHA:3299 Tetanus
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:199310 Tetragametic chimerism
- ORPHA:3305 Tetraploidy
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- ORPHA:9 Tetrasomy X
- OMIM:603902 Thalassemia-beta, dominant inclusion-body
- OMIM:273680 Thanatophoric dysplasia, glasgow variant
- ORPHA:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- OMIM:187750 Thoracic dysostosis, isolated
- OMIM:187950 Thrombocythemia 1
- OMIM:313900 Thrombocytopenia 1
- OMIM:188000 Thrombocytopenia 2
- OMIM:616216 Thrombocytopenia 5
- OMIM:314050 Thrombocytopenia with beta-thalassemia, X-linked
- OMIM:314000 Thrombocytopenia with elevated serum IgA and renal disease
- OMIM:617441 Thrombocytopenia, anemia, and myelofibrosis
- OMIM:188030 Thrombocytopenic purpura, autoimmune
- OMIM:274190 Thumb agenesis, short stature, and immunodeficiency
- ORPHA:83471 Thymic aplasia
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- OMIM:274230 Thymoma, familial
- ORPHA:3327 Thyrocerebrorenal syndrome
- OMIM:274240 Thyrocerebroretinal syndrome
- OMIM:274300 Thyroid hormone resistance, generalized, autosomal recessive
- ORPHA:97285 Thyroid lymphoma
- ORPHA:297 Tick-borne encephalitis
- OMIM:601005 Timothy syndrome
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- OMIM:300622 Tn polyagglutination syndrome
- OMIM:618971 Tolchin-Le Caignec syndrome
- OMIM:314300 Torticollis, keloids, cryptorchidism, and renal dysplasia
- OMIM:106700 Total anomalous pulmonary venous return 1
- ORPHA:537 Toxic epidermal necrolysis
- OMIM:275300 TRACHEOBRONCHOMEGALY
- ORPHA:3348 Tracheobronchopathia osteochondroplastica
- OMIM:189961 Tracheopathia osteoplastica
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- ORPHA:859 Transcobalamin deficiency
- OMIM:275350 Transcobalamin II deficiency
- ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma
- ORPHA:99886 Transient neonatal diabetes mellitus
- ORPHA:488618 Transketolase deficiency
- ORPHA:861 Treacher-Collins syndrome
- ORPHA:863 Trichinellosis
- ORPHA:3352 Tricho-dento-osseous syndrome
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:614602 Trichohepatoenteric syndrome 2
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:234050 Trichothiodystrophy 4, nonphotosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- OMIM:619691 Trichothiodystrophy 8, nonphotosensitive
- OMIM:602079 Trimethylaminuria
- OMIM:618805 Triokinase and FMN cyclase deficiency syndrome
- ORPHA:868 Triose phosphate-isomerase deficiency
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:264450 Trisomy 8p
- OMIM:608189 Tropical calcific pancreatitis
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:3384 Truncus arteriosus
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- OMIM:162000 Tubulointerstitial kidney disease, autosomal dominant, 1
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- OMIM:607665 Tubulointerstitial nephritis with uveitis
- OMIM:191150 Tuftsin deficiency
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:619975 Tumor predisposition syndrome 2
- OMIM:610455 Tumoral calcinosis, normophosphatemic, familial
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- OMIM:238600 Type I hyperlipoproteinemia
- ORPHA:99745 Typhoid
- ORPHA:882 Tyrosinemia type 1
- OMIM:276700 Tyrosinemia, type I
Disease code
Disease name
- ORPHA:3406 Ulerythema ophryogenesis
- OMIM:254090 Ullrich congenital muscular dystrophy 1
- ORPHA:98827 Unclassified myelodysplastic syndrome
- OMIM:191500 Undritz anomaly
- ORPHA:488 Urachal cyst
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- ORPHA:94059 Uremic pruritus
- ORPHA:210128 Urocanic aciduria
- OMIM:236730 Urofacial syndrome
- OMIM:615112 Urofacial syndrome 2
- ORPHA:39044 Uveal melanoma
Disease code
Disease name
- ORPHA:3417 Van den Bosch syndrome
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:600670 Varicella, severe recurrent
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192430 Velocardiofacial syndrome
- ORPHA:505395 Ventilator-induced diaphragmatic dysfunction
- ORPHA:70476 Vernal keratoconjunctivitis
- ORPHA:464318 Verrucous hemangioma
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- ORPHA:26793 Very long chain acyl-CoA dehydrogenase deficiency
- OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency
- OMIM:615963 Vesicoureteral reflux 8
- OMIM:301054 VEXAS syndrome, somatic
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- OMIM:155310 Visceral myopathy 1
- OMIM:619350 Visceral myopathy 2
- OMIM:619472 VISS syndrome
- 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
- OMIM:193235 Vitreoretinopathy, neovascular inflammatory
- ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy
- OMIM:615828 Vulto-van Silfout-de Vries syndrome
- ORPHA:83453 Vulvovaginal gingival syndrome
- OMIM:193450 Vulvovaginitis, allergic seminal
Disease code
Disease name
- ORPHA:2804 W syndrome
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:901 Wells syndrome
- OMIM:193670 Whim syndrome
- ORPHA:51636 WHIM syndrome
- OMIM:619407 WHIM syndrome 2
- ORPHA:3452 Whipple disease
- OMIM:619426 White-Kernohan syndrome
- OMIM:616364 White-Sutton syndrome
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:904 Williams syndrome
- OMIM:609757 Williams-Beuren region duplication syndrome
- OMIM:194050 Williams-Beuren syndrome
- ORPHA:905 Wilson disease
- OMIM:277900 Wilson disease
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:614493 Wiskott-Aldrich syndrome 2
- OMIM:600903 Wiskott-Aldrich syndrome, autosomal dominant form
- OMIM:613406 Witteveen-Kolk syndrome
- ORPHA:1667 Wolcott-Rallison syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- ORPHA:3463 Wolfram syndrome
- OMIM:604928 Wolfram syndrome 2
- OMIM:598500 Wolfram syndrome, mitochondrial form
- ORPHA:75233 Wolman disease
- ORPHA:2834 Wrinkly skin syndrome
- OMIM:194350 Wt limb-blood syndrome
Disease code
Disease name
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:596 X-linked centronuclear myopathy
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:53351 X-linked dystonia-parkinsonism
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:89936 X-linked hypophosphatemia
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:364028 X-linked intellectual disability due to GRIA3 mutations
- ORPHA:85293 X-linked intellectual disability, Cabezas type
- 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:85290 X-linked intellectual disability, Wilson type
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- ORPHA:3052 X-linked intellectual disability-seizures-psoriasis syndrome
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:85334 X-linked neurodegenerative syndrome, Bertini type
- ORPHA:86788 X-linked severe congenital neutropenia
- ORPHA:75563 X-linked sideroblastic anemia
- OMIM:278300 Xanthinuria, type I
- ORPHA:910 Xeroderma pigmentosum
- ORPHA:90342 Xeroderma pigmentosum variant
- OMIM:278700 Xeroderma pigmentosum, complementation group A
- OMIM:278720 Xeroderma pigmentosum, complementation group C
- OMIM:278730 Xeroderma pigmentosum, complementation group D
- OMIM:278740 Xeroderma pigmentosum, complementation group E
- OMIM:278750 Xeroderma pigmentosum, Variant type
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- ORPHA:261476 Xp21 deletion syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:314389 Xq12-q13.3 duplication syndrome
- ORPHA:370930 XYLT1-CDG
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
- A2ML1
- AARS1
- AASS
- ABCA1
- ABCA12
- ABCA3
- ABCB1
- ABCB11
- ABCB4
- ABCC8
- ABCC9
- ABCD1
- ABCD3
- ABCD4
- ABCG8
- ABHD5
- ABL1
- ACADVL
- ACAT1
- ACD
- ACP5
- ACTA1
- ACTB
- ACTC1
- ACTG2
- ACTN2
- ACTN4
- ACVR2B
- ACVRL1
- ADA
- ADA2
- ADAM17
- ADAMTS2
- ADAMTS3
- ADAMTSL2
- ADAR
- ADAT3
- ADH5
- ADNP
- ADORA2A
- ADRB2
- AEBP1
- AFF4
- AGA
- AGL
- AGPAT2
- AGRN
- AGXT
- AICDA
- AIP
- AIRE
- AK2
- AKR1D1
- AKT1
- AKT2
- ALAD
- ALAS2
- ALB
- ALDH18A1
- ALDH1A2
- ALDH3A2
- ALDOA
- ALG1
- ALG12
- ALG13
- ALG14
- ALG3
- ALG5
- ALG9
- ALMS1
- ALOX12B
- ALOX5
- ALOXE3
- ALPK1
- ALPL
- AMACR
- AMN
- ANAPC1
- ANK1
- ANKFY1
- ANKRD1
- ANKRD11
- ANKRD17
- ANKRD26
- ANKRD55
- ANLN
- ANO5
- ANTXR2
- AP1B1
- AP1S3
- AP2S1
- AP3B1
- AP3D1
- APC
- APC2
- APOA1
- APOC2
- APOE
- APOL1
- APPL1
- APRT
- ARHGAP24
- ARHGAP26
- ARHGAP29
- ARHGAP31
- ARHGDIA
- ARHGEF1
- ARHGEF2
- ARID1A
- ARID1B
- ARID2
- ARL3
- ARL6
- ARMC5
- ARPC1B
- ARSB
- ARSL
- ARVCF
- ASAH1
- ASPRV1
- ASXL1
- ASXL3
- ATAD1
- ATL1
- ATL3
- ATM
- ATOH7
- ATP11A
- ATP6AP1
- ATP6AP2
- ATP6V0A1
- ATP6V0A2
- ATP6V1B2
- ATP7A
- ATP7B
- ATP8B1
- ATR
- ATRX
- AUTS2
- AXIN1
Gene name
Gene name
- C1GALT1C1
- C1QA
- C1QB
- C1QC
- C1R
- C1S
- C2
- C2orf69
- C3
- C4A
- C4B
- C5
- C6
- C7
- C8A
- C8B
- C9
- CA2
- CACNA1B
- CACNA1C
- CACNA1G
- CALR
- CAMK2B
- CAP2
- CAPN3
- CAPN5
- CARD10
- CARD11
- CARD14
- CARD8
- CARD9
- CARMIL2
- CARS1
- CASK
- CASP10
- CASP8
- CASR
- CASZ1
- CAT
- CAV1
- CAVIN1
- CBL
- CBS
- CC2D2A
- CCBE1
- CCDC103
- CCDC115
- CCDC22
- CCDC28B
- CCDC32
- CCDC39
- CCDC40
- CCDC47
- CCDC65
- CCL11
- CCN2
- CCN6
- CCND1
- CCNO
- CCR1
- CCR6
- CCT5
- CD151
- CD19
- CD244
- CD247
- CD27
- CD28
- CD2AP
- CD3D
- CD3E
- CD3G
- CD4
- CD40
- CD40LG
- CD46
- CD55
- CD70
- CD79A
- CD79B
- CD81
- CD8A
- CD96
- CDAN1
- CDC40
- CDC42
- CDC42BPB
- CDC45
- CDC73
- CDCA7
- CDH1
- CDH23
- CDH3
- CDIN1
- CDK10
- CDK4
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CDSN
- CEACAM3
- CEACAM6
- CEBPA
- CEBPE
- CEL
- CELSR1
- CENPF
- CEP126
- CEP290
- CEP57
- CERS3
- CFAP221
- CFAP298
- CFAP300
- CFAP410
- CFAP45
- CFAP52
- CFB
- CFC1
- CFD
- CFH
- CFHR1
- CFHR3
- CFHR5
- CFI
- CFP
- CFTR
- CHAMP1
- CHAT
- CHD1
- CHD7
- CHEK2
- CHIC2
- CHRM3
- CHRNA1
- CHRNA3
- CHRNB1
- CHRND
- CHRNE
- CHST14
- CIB1
- CIC
- CIDEC
- CIITA
- CISD2
- CITED2
- CLCA4
- CLCN7
- CLCNKB
- CLDN1
- CLDN16
- CLDN19
- CLEC7A
- CLIP2
- CLN3
- CLPB
- CLTCL1
- CLTRN
- COG1
- COG4
- COG5
- COG6
- COG7
- COG8
- COL11A1
- COL11A2
- COL13A1
- COL17A1
- COL18A1
- COL1A1
- COL2A1
- COL3A1
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL7A1
- COLQ
- COMT
- COPA
- COQ8B
- CORIN
- CORO1A
- COX10
- COX4I2
- COX8A
- CPA1
- CPLANE1
- CPLX1
- CPOX
- CPSF3
- CR2
- CRB2
- CREBBP
- CRIPT
- CRKL
- CRLF1
- CRYAB
- CSF2RB
- CSF3R
- CSNK2A1
- CSPP1
- CSRP3
- CST6
- CSTA
- CTBP1
- CTC1
- CTCF
- CTLA4
- CTNNB1
- CTNNBL1
- CTNS
- CTPS1
- CTRC
- CTSA
- CTSB
- CTSC
- CTSK
- CUBN
- CUL4B
- CXCR2
- CXCR4
- CYBA
- CYBB
- CYBC1
- CYP11B1
- CYP26C1
- CYP4F22
- CYP7A1
- CYP7B1
- CYSLTR2
Gene name
- DAAM2
- DAXX
- DBR1
- DBT
- DCDC2
- DCLRE1B
- DCLRE1C
- DCTN4
- DDB1
- DDB2
- DDOST
- DDR2
- DDRGK1
- DDX41
- DDX59
- DDX6
- DEAF1
- DEF6
- DES
- DGCR2
- DGCR6
- DGCR8
- DGKE
- DGUOK
- DHCR24
- DHCR7
- DIS3L2
- DISC1
- DISP1
- DKC1
- DLEC1
- DLG1
- DLK1
- DLL1
- DLL3
- DLL4
- DLX3
- DLX4
- DMD
- DMP1
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB11
- DNAJB13
- DNAJC21
- DNAJC3
- DNAJC30
- DNAL1
- DNASE1
- DNASE1L3
- DNASE2
- DNMT1
- DNMT3A
- DNMT3B
- DOCK2
- DOCK6
- DOCK8
- DOHH
- DOK7
- DOLK
- DPF2
- DPM1
- DPM2
- DRC1
- DSE
- DSG1
- DSG2
- DSP
- DUT
- DYM
- DYNC2I2
- DYNC2LI1
- DYRK1A
- DZIP1L
Gene name
- EBP
- ECE1
- ECM1
- EDA
- EDAR
- EDARADD
- EDN3
- EDNRA
- EDNRB
- EFEMP2
- EFL1
- EGFR
- EHMT1
- EIF2AK3
- EIF2AK4
- EIF4H
- ELANE
- ELF4
- ELN
- ELOVL4
- ELP1
- EMP2
- EN1
- ENG
- ENPP1
- EOGT
- EOMES
- EP300
- EPB41
- EPB42
- EPCAM
- EPG5
- EPHB4
- EPM2A
- EPOR
- EPX
- ERAP1
- ERBB2
- ERBB3
- ERCC1
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC6L2
- ERCC8
- ERF
- ESCO2
- ESR1
- ESS2
- ETV6
- EVC
- EVC2
- EWSR1
- EXOC2
- EXOSC9
- EXT1
- EXTL3
- EYA4
Gene name
- F13A1
- F13B
- F5
- FADD
- FAH
- FAM111A
- FAM111B
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FARSA
- FARSB
- FAS
- FASLG
- FAT4
- FBLN5
- FBN1
- FBXL4
- FBXO11
- FBXO28
- FBXW7
- FCGR2A
- FCGR2B
- FCGR3A
- FCGR3B
- FCHO1
- FCN3
- FCSK
- FDX2
- FECH
- FERMT1
- FERMT3
- FGA
- FGB
- FGF10
- FGF23
- FGF3
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FGFRL1
- FGG
- FHL2
- FIBP
- FIG4
- FIP1L1
- FKBP6
- FKTN
- FLG
- FLI1
- FLII
- FLNA
- FLNC
- FLT1
- FLT3
- FLT4
- FLVCR1
- FMO3
- FNIP1
- FOCAD
- FOXC2
- FOXD3
- FOXE1
- FOXF1
- FOXH1
- FOXJ1
- FOXN1
- FOXP1
- FOXP3
- FRAS1
- FTCD
- FUCA1
- FUT8
- FUZ
Gene name
- G6PC1
- G6PC3
- G6PD
- GAA
- GABRD
- GALC
- GALE
- GALK1
- GALM
- GALNS
- GALT
- GANAB
- GAPVD1
- GAS1
- GAS2L2
- GAS8
- GATA1
- GATA2
- GATA3
- GATA4
- GATA6
- GATAD1
- GBA1
- GBE1
- GCGR
- GCK
- GCLC
- GDF1
- GDNF
- GEMIN4
- GFI1
- GIMAP5
- GINS1
- GJA1
- GJB2
- GJB3
- GJB4
- GJB6
- GJC2
- GLB1
- GLI1
- GLI2
- GLI3
- GLIS3
- GLRA1
- GLRA2
- GLRB
- GLRX5
- GLUL
- GMNN
- GNA11
- GNAQ
- GNAS
- GNB1
- GNB2
- GNE
- GNPTAB
- GNS
- GORAB
- GOT2
- GP1BA
- GP1BB
- GP9
- GPC3
- GPC4
- GPD1
- GPHN
- GPI
- GPIHBP1
- GPR101
- GPR35
- GRB10
- GRHL2
- GRHL3
- GRHPR
- GRIA1
- GRIA3
- GRIN2A
- GRM7
- GSN
- GSS
- GSTM3
- GTF2E2
- GTF2H5
- GTF2I
- GTF2IRD1
- GTF2IRD2
- GUCY2C
- GUSB
- GYPC
Gene name
- H19
- H3-3B
- H4C3
- H4C5
- H4C9
- H6PD
- HABP2
- HACD1
- HAMP
- HAND2
- HAVCR2
- HAX1
- HBA1
- HBA2
- HBB
- HBG1
- HBG2
- HDAC4
- HDAC8
- HELLS
- HEPHL1
- HERC2
- HES7
- HEXB
- HFE
- HGD
- HGSNAT
- HIRA
- HJV
- HK1
- HLA-A
- HLA-B
- HLA-C
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQB1
- HLA-DRB1
- HLA-G
- HLCS
- HMGA2
- HMGCL
- HMOX1
- HNF1A
- HNF4A
- HNMT
- HNRNPA2B1
- HOXA13
- HPGD
- HPS1
- HPS6
- HPSE2
- HRAS
- HSCB
- HSD17B4
- HSD3B7
- HSPA9
- HSPG2
- HTRA2
- HYAL1
- HYLS1
- HYMAI
- HYOU1
Gene name
- IARS1
- IARS2
- ICOS
- IDH1
- IDH2
- IDUA
- IER3IP1
- IFIH1
- IFNAR1
- IFNAR2
- IFNG
- IFNGR1
- IFNGR2
- IFT122
- IFT140
- IFT172
- IGBP1
- IGF2
- IGF2R
- IGH
- IGHG2
- IGHM
- IGKC
- IGLL1
- IGSF3
- IKBKB
- IKBKG
- IKZF1
- IKZF3
- IL10
- IL10RA
- IL10RB
- IL11RA
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL13
- IL17F
- IL17RA
- IL17RC
- IL18BP
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL36RN
- IL37
- IL4R
- IL6
- IL6R
- IL6ST
- IL7
- IL7R
- INAVA
- INF2
- INPP5E
- INPPL1
- INS
- INSR
- IPO8
- IPW
- IQSEC2
- IRAK1
- IRAK4
- IRF2BP2
- IRF3
- IRF4
- IRF5
- IRF6
- IRF7
- IRF8
- IRF9
- IRGM
- ISCU
- ISG15
- ISL1
- ITCH
- ITGA3
- ITGA6
- ITGA7
- ITGB2
- ITGB4
- ITK
- ITPR3
- IVD
- IVNS1ABP
Gene name
Gene name
- L2HGDH
- LACC1
- LAGE3
- LAMA2
- LAMA3
- LAMA4
- LAMB2
- LAMB3
- LAMC2
- LAMTOR2
- LAT
- LBR
- LCAT
- LCK
- LCP2
- LDB3
- LDHA
- LEMD3
- LEP
- LEPR
- LETM1
- LFNG
- LGI3
- LHCGR
- LIFR
- LIG1
- LIG3
- LIG4
- LIMK1
- LIPA
- LIPN
- LMBRD1
- LMF1
- LMNA
- LMNB1
- LMNB2
- LMOD1
- LMX1B
- LONP1
- LPIN1
- LPIN2
- LPL
- LPP
- LRBA
- LRIF1
- LRIG2
- LRRC32
- LRRC56
- LRRC8A
- LSM11
- LSS
- LTBP1
- LTBP3
- LTBP4
- LUZP1
- LYST
- LYZ
- LZTR1
Gene name
- MAB21L1
- MAD2L2
- MAF
- MAGEL2
- MAGI2
- MAGT1
- MALT1
- MAN2B1
- MANBA
- MAP2K1
- MAP2K2
- MAP3K20
- MAP3K7
- MAPK1
- MASP2
- MBD4
- MBD5
- MBL2
- MBTPS2
- MC1R
- MC2R
- MCCC2
- MCIDAS
- MCM10
- MCM4
- MDFIC
- MDM2
- MDM4
- MECOM
- MECP2
- MED12
- MED13L
- MED25
- MEFV
- MEG3
- MEGF8
- MEIS2
- MEN1
- MESP2
- MET
- METTL27
- MGAT2
- MGME1
- MGMT
- MGP
- MIA3
- MICU1
- MID1
- MIF
- MINPP1
- MIR140
- MITF
- MKRN3
- MKS1
- MLH1
- MLLT10
- MLPH
- MLX
- MLXIPL
- MMAA
- MMAB
- MMACHC
- MME
- MMEL1
- MMP1
- MMP2
- MMP21
- MMP23B
- MMUT
- MNS1
- MNX1
- MOGS
- MORC2
- MPDU1
- MPEG1
- MPI
- MPIG6B
- MPL
- MPLKIP
- MPO
- MPV17
- MPZ
- MRAP
- MRAS
- MRTFA
- MS4A1
- MS4A2
- MSH2
- MSMO1
- MSN
- MST1
- MSX1
- MT-CO1
- MT-CO2
- MT-CO3
- MT-ND1
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TF
- MT-TH
- MT-TL1
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TW
- MTAP
- MTHFD1
- MTHFR
- MTM1
- MTOR
- MTRR
- MTTP
- MUC5B
- MUC7
- MVK
- MYBPC3
- MYC
- MYCN
- MYD88
- MYH11
- MYH3
- MYH6
- MYH7
- MYH9
- MYL2
- MYL9
- MYLK
- MYO1E
- MYO1H
- MYO5A
- MYO5B
- MYO9A
- MYPN
- MYRF
- MYSM1
Gene name
- NAA10
- NABP1
- NADK2
- NAGLU
- NARS2
- NAXD
- NBAS
- NBEA
- NBEAL2
- NBN
- NCF2
- NCF4
- NCKAP1L
- NCSTN
- NDE1
- NDN
- NDP
- NDUFA6
- NDUFC2
- NDUFS3
- NDUFS4
- NECTIN1
- NEK10
- NEK8
- NEK9
- NELFA
- NEPRO
- NEU1
- NEUROD1
- NEXN
- NFASC
- NFE2L2
- NFIX
- NFKB1
- NFKB2
- NFKBIA
- NFKBIL1
- NFS1
- NGF
- NGLY1
- NHEJ1
- NHLRC1
- NHLRC2
- NHP2
- NIPAL4
- NIPBL
- NKX2-1
- NKX2-5
- NKX2-6
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NME5
- NME8
- NNT
- NOD2
- NODAL
- NOP10
- NOS1
- NOTCH1
- NPAP1
- NPC1
- NPC2
- NPHP3
- NPHS1
- NPHS2
- NPM1
- NR1H4
- NR3C1
- NRAS
- NRTN
- NSD1
- NSD2
- NSMCE2
- NSMCE3
- NSUN2
- NTRK1
- NUMA1
- NUP107
- NUP133
- NUP160
- NUP205
- NUP214
- NUP37
- NUP85
- NUP93
- NUTM1
- NXN
Gene name
Gene name
- P4HA2
- P4HTM
- PACS1
- PACS2
- PAFAH1B1
- PAH
- PAK2
- PALB2
- PALLD
- PANK2
- PAPSS2
- PARN
- PAX1
- PAX2
- PAX4
- PAX6
- PCCA
- PCCB
- PCGF2
- PCNT
- PCYT1A
- PDE11A
- PDE4D
- PDE8B
- PDGFRA
- PDGFRB
- PDGFRL
- PDHA1
- PDPN
- PDX1
- PEPD
- PERCC1
- PET117
- PEX13
- PEX19
- PEX2
- PEX5
- PEX7
- PGM1
- PGM3
- PHEX
- PHGDH
- PHIP
- PHKA2
- PHKB
- PHKG2
- PHYH
- PI4KA
- PICALM
- PIEZO1
- PIGA
- PIGG
- PIGL
- PIGM
- PIGN
- PIGT
- PIGU
- PIGY
- PIK3C2A
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PKD1
- PKD2
- PKHD1
- PKLR
- PKP1
- PLA2G6
- PLA2G7
- PLAG1
- PLAGL1
- PLCD1
- PLCE1
- PLCG2
- PLCH1
- PLEC
- PLEKHM1
- PLG
- PLN
- PLOD1
- PLP1
- PLVAP
- PLXND1
- PML
- PMM2
- PMP22
- PNP
- PNPLA1
- PNPLA2
- POFUT1
- POGLUT1
- POGZ
- POLA1
- POLE
- POLG
- POLH
- POLR1B
- POLR1C
- POLR1D
- POLR2A
- POLR3A
- POLR3F
- POLR3GL
- POMP
- POT1
- POU2AF1
- POU6F2
- PPARG
- PPCS
- PPIL1
- PPM1D
- PPP1R21
- PPP2R3C
- PRDM12
- PRDM16
- PRDX1
- PRF1
- PRG4
- PRIM1
- PRKACA
- PRKACB
- PRKAR1A
- PRKAR1B
- PRKCD
- PRKCZ
- PRKDC
- PRMT7
- PRORP
- PRPS1
- PRSS1
- PRSS2
- PRTN3
- PSAP
- PSEN1
- PSEN2
- PSENEN
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMD12
- PSMG2
- PSPH
- PSTPIP1
- PTCD3
- PTCH1
- PTEN
- PTGER2
- PTH1R
- PTPN11
- PTPN2
- PTPN22
- PTPRC
- PTPRO
- PURA
- PWAR1
- PWRN1
- PYROXD1
Gene name
- RAB23
- RAB27A
- RAB3GAP2
- RAB7A
- RABL3
- RAC1
- RAC2
- RAD21
- RAD50
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RALGAPA1
- RANBP2
- RAPSN
- RARA
- RARB
- RASA1
- RASA2
- RASGRP1
- RB1
- RBCK1
- RBM20
- RBP4
- RBPJ
- RECQL4
- REEP1
- REL
- RELA
- RELB
- RELN
- RERE
- REST
- RET
- RETREG1
- REV3L
- RFC2
- RFWD3
- RFX5
- RFXANK
- RFXAP
- RHAG
- RHCE
- RHD
- RHOH
- RIC1
- RIN2
- RINT1
- RIPK1
- RIPPLY2
- RIT1
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF125
- RNF13
- RNF168
- RNF2
- RNF6
- RNU4ATAC
- RNU7-1
- ROR2
- RORC
- RPA1
- RPGR
- RPGRIP1
- RPGRIP1L
- RPL10
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS14
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS7
- RPSA
- RRAS
- RRAS2
- RREB1
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPRY1
- RTEL1
- RTL1
- RTTN
- RUNX1
- RUNX2
- RYR1
Gene name
- SALL4
- SAMD9
- SAMD9L
- SAMHD1
- SARS2
- SASH3
- SATB1
- SATB2
- SBDS
- SC5D
- SCARB2
- SCGB3A2
- SCN10A
- SCN11A
- SCN4A
- SCN5A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- SCYL1
- SDCCAG8
- SDHA
- SDHB
- SDHC
- SDHD
- SDR9C7
- SEC23B
- SEC24C
- SEC61A1
- SELENON
- SEMA3C
- SEMA3D
- SEMA3E
- SEMA4D
- SEMA6B
- SEPSECS
- SERAC1
- SERPINA1
- SERPING1
- SETBP1
- SETD1A
- SETD2
- SETX
- SF3B1
- SFTPA2
- SFTPB
- SFTPC
- SGCD
- SGCG
- SGPL1
- SGSH
- SH2B3
- SH2D1A
- SH3BP2
- SH3GL1
- SH3KBP1
- SH3PXD2B
- SHANK3
- SHH
- SHOC2
- SHPK
- SHROOM4
- SIAH1
- SIK1
- SIK3
- SIM1
- SIN3A
- SIX3
- SKI
- SKIC2
- SKIC3
- SLC11A1
- SLC12A3
- SLC17A5
- SLC18A3
- SLC19A1
- SLC1A4
- SLC22A4
- SLC25A1
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A22
- SLC25A24
- SLC26A2
- SLC26A9
- SLC27A4
- SLC29A3
- SLC2A1
- SLC2A10
- SLC30A10
- SLC30A2
- SLC35A1
- SLC35A2
- SLC35C1
- SLC37A4
- SLC39A4
- SLC39A7
- SLC39A8
- SLC3A1
- SLC41A1
- SLC46A1
- SLC4A1
- SLC52A3
- SLC5A2
- SLC5A6
- SLC5A7
- SLC6A14
- SLC6A19
- SLC6A5
- SLC7A7
- SLC7A9
- SLC9A3
- SLCO2A1
- SLURP1
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMARCA2
- SMARCA4
- SMARCAD1
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMC1A
- SMC3
- SMG8
- SMG9
- SMO
- SMPD1
- SNAP25
- SNAP29
- SNORA31
- SNORD115-1
- SNORD116-1
- SNRPN
- SNX10
- SNX14
- SOCS1
- SON
- SOS1
- SOS2
- SOX10
- SOX11
- SOX18
- SOX4
- SOX6
- SOX9
- SP110
- SPAG1
- SPATA5
- SPEF2
- SPEN
- SPI1
- SPIB
- SPINK1
- SPINK5
- SPP1
- SPPL2A
- SPRED1
- SPRED2
- SPTA1
- SPTB
- SPTBN1
- SPTBN4
- SPTLC1
- SPTLC2
- SRCAP
- SRD5A3
- SREBF1
- SRP54
- SRSF2
- SRY
- ST14
- STAG2
- STAR
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STEAP3
- STIL
- STIM1
- STING1
- STK36
- STK4
- STOX1
- STRA6
- STS
- STUB1
- STX11
- STX16
- STX1A
- STX3
- STXBP1
- STXBP2
- SUCLG1
- SUFU
- SULT2B1
- SUMF1
- SUOX
- SYK
- SYT2
Gene name
- TAF1
- TAF1A
- TAFAZZIN
- TAL1
- TAL2
- TALDO1
- TAOK1
- TAP1
- TAP2
- TAPBP
- TARS1
- TASP1
- TBC1D23
- TBC1D24
- TBC1D2B
- TBC1D7
- TBC1D8B
- TBCD
- TBCE
- TBCK
- TBK1
- TBL1XR1
- TBL2
- TBX1
- TBX19
- TBX2
- TBX20
- TBX21
- TBX4
- TBX6
- TBXAS1
- TCAP
- TCF3
- TCF4
- TCIRG1
- TCN2
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TDP2
- TECPR2
- TEK
- TERC
- TERF2IP
- TERT
- TET2
- TF
- TFAP2A
- TFE3
- TFG
- TFR2
- TFRC
- TG
- TGDS
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGIF1
- TGM1
- TGM5
- THOC6
- THPO
- THRB
- TICAM1
- TIMM8A
- TIMMDC1
- TINF2
- TK2
- TKFC
- TKT
- TLK2
- TLL1
- TLR2
- TLR3
- TLR4
- TLR7
- TLR8
- TMC6
- TMC8
- TMCO1
- TMEM107
- TMEM147
- TMEM216
- TMEM231
- TMEM237
- TMEM270
- TMEM67
- TMEM70
- TMEM94
- TMPO
- TNF
- TNFAIP3
- TNFRSF11A
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFRSF4
- TNFSF11
- TNFSF12
- TNFSF15
- TNNC1
- TNNI3
- TNNT2
- TNPO3
- TNRC6B
- TNXB
- TOM1
- TONSL
- TOP3A
- TP53
- TP53RK
- TP63
- TP73
- TPI1
- TPM1
- TPM2
- TPM3
- TPP2
- TPRKB
- TRAC
- TRAF3
- TRAF3IP2
- TRAF6
- TRAIP
- TRAPPC11
- TRAPPC2
- TREM2
- TREX1
- TRHR
- TRIM28
- TRIM37
- TRIM8
- TRIO
- TRIP11
- TRIP13
- TRIP4
- TRMT10A
- TRMU
- TRNT1
- TRPC6
- TRPM4
- TRPS1
- TRPV6
- TRRAP
- TSC1
- TSC2
- TSEN15
- TSEN2
- TSEN34
- TSEN54
- TSHB
- TSHR
- TSR2
- TTC12
- TTC26
- TTC7A
- TTI2
- TTN
- TULP3
- TWIST1
- TXNDC15
- TXNRD2
- TYK2
- TYMS
- TYROBP
Gene name
Gene name
Gene name
International Division
Monday-Friday : 8h30 - 18h30
T. : +33 4 72 80 23 85
Contact by email
T. : +33 4 72 80 23 85
Contact by email
