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Abnormality of blood and blood-forming tissues
Therapeutic area code (HPO):
HP:0001871Panel «Abnormality of blood and blood-forming tissues» :
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Disease code
Disease name
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:401986 1p31p32 microdeletion syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- OMIM:610198 3-@methylglutaconic aciduria, type V
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
- ORPHA:67048 3-methylglutaconic aciduria type 4
- 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:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- OMIM:172150 6-@phosphogluconolactonase deficiency
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Disease code
Disease name
- ORPHA:85445 AA amyloidosis
- ORPHA:439232 AApoAIV amyloidosis
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:600501 ABCD syndrome
- OMIM:618620 Abdominal obesity-metabolic syndrome 4
- ORPHA:100006 ABeta amyloidosis, Dutch type
- ORPHA:324708 ABeta amyloidosis, Iowa type
- ORPHA:324713 ABeta amyloidosis, Italian type
- ORPHA:324703 ABetaL34V amyloidosis
- OMIM:200100 ABETALIPOPROTEINEMIA
- ORPHA:14 Abetalipoproteinemia
- ORPHA:926 Acatalasemia
- OMIM:604290 ACERULOPLASMINEMIA
- ORPHA:48818 Aceruloplasminemia
- OMIM:200300 Acetophenetidin sensitivity
- OMIM:200900 Achondroplasia, so-called, and severe combined immunodeficiency
- ORPHA:90065 Acquired aneurysmal subarachnoid hemorrhage
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:454 Acquired ichthyosis
- ORPHA:75564 Acquired idiopathic sideroblastic anemia
- ORPHA:464453 Acquired methemoglobinemia
- ORPHA:79087 Acquired partial lipodystrophy
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- ORPHA:280651 Acrodysostosis with multiple hormone resistance
- ORPHA:38 Acrokeratoelastoidosis of Costa
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- ORPHA:95409 Acute adrenal insufficiency
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:318 Acute erythroid leukemia
- 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:99901 Acyl-CoA dehydrogenase 9 deficiency
- ORPHA:100008 ACys amyloidosis
- ORPHA:974 Adams-Oliver syndrome
- OMIM:616028 Adams-Oliver syndrome 5
- ORPHA:85138 Addison disease
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:95512 Adenohypophysitis
- OMIM:600458 Adenomyosis
- OMIM:102800 Adenosine triphosphatase deficiency, anemia due to
- OMIM:102900 Adenosine triphosphate, elevated, of erythrocytes
- OMIM:612631 Adenylate kinase deficiency, hemolytic anemia due to
- ORPHA:36397 Adiposis dolorosa
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- ORPHA:2688 Adult idiopathic neutropenia
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- OMIM:202400 Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included
- 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
- 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
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- ORPHA:79327 ALG1-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79326 ALG2-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:1164 Allergic bronchopulmonary aspergillosis
- ORPHA:1006 Alopecia antibody deficiency
- ORPHA:100025 Alpha-heavy chain disease
- OMIM:248500 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:846 Alpha-thalassemia
- OMIM:604131 ALPHA-THALASSEMIA
- OMIM:300448 Alpha-Thalassemia myelodysplasia syndrome
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- OMIM:301050 Alport syndrome, X-linked
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- ORPHA:284 Alveolar echinococcosis
- OMIM:619151 AMED syndrome, digenic
- OMIM:604498 Amegakaryocytic thrombocytopenia, congenital
- ORPHA:3386 American trypanosomiasis
- OMIM:300194 AMME complex
- ORPHA:67 Amoebiasis due to Entamoeba histolytica
- ORPHA:68 Amoebiasis due to free-living amoebae
- OMIM:105150 Amyloidosis VI
- OMIM:205700 Anemia, autoimmune hemolytic
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:615631 Anemia, congenital dyserythropoietic, type Ib
- OMIM:619789 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
- OMIM:224100 Anemia, dyserythropoietic congenital, type II
- OMIM:105600 Anemia, dyserythropoietic congenital, type III
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:268150 Anemia, hemolytic, Rh-null, Regulator type
- OMIM:206100 Anemia, hypochromic microcytic, with iron overload 1
- OMIM:615234 Anemia, hypochromic microcytic, with iron overload 2
- OMIM:206300 Anemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane
- OMIM:206400 Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism
- OMIM:205950 Anemia, sideroblastic, 2, pyridoxine-refractory
- OMIM:616860 Anemia, sideroblastic, 3, pyridoxine-refractory
- OMIM:619523 Anemia, sideroblastic, 5
- OMIM:301310 Anemia, sideroblastic, and spinocerebellar ataxia
- OMIM:182170 Anemia, sideroblastic, autosomal dominant
- OMIM:206000 Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
- OMIM:300751 Anemia, sideroblastic, X-linked
- OMIM:300835 Anemia, X-linked, with or without neutropenia and/or platelet abnormalities
- OMIM:105800 Aneurysm, intracranial berry, 1
- OMIM:618734 Aneurysm, intracranial berry, 12
- OMIM:608542 Aneurysm, intracranial berry, 2
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:75508 Angioosteohypotrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- ORPHA:74 Angiostrongyliasis
- ORPHA:51890 Anterior cutaneous nerve entrapment syndrome
- ORPHA:375 Anti-glomerular basement membrane disease
- OMIM:107320 Antiphospholipid syndrome, familial
- OMIM:613118 Antithrombin III deficiency
- OMIM:207300 Antithrombin, familial hemorrhagic diathesis due to
- ORPHA:1114 Aplasia cutis congenita
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1117 Aplasia cutis-myopia syndrome
- OMIM:609135 Aplastic anemia
- ORPHA:2356 Arachnoid cyst
- ORPHA:1133 AREDYLD syndrome
- ORPHA:101096 Aregenerative anemia
- OMIM:243910 Arima syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:208060 Arteriosclerosis, severe juvenile
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:271400 Asplenia, isolated congenital
- OMIM:208600 Asthma, short stature, and elevated iga
- OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
- OMIM:159550 Ataxia-Pancytopenia syndrome
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- OMIM:209050 Athrombia, essential
- OMIM:209300 ATRANSFERRINEMIA
- OMIM:608583 Atrial fibrillation, familial, 1
- OMIM:607554 Atrial fibrillation, familial, 3
- ORPHA:99106 Atrial septal defect, ostium primum type
- ORPHA:99105 Atrial septal defect, sinus venosus type
- ORPHA:1344 Atrial standstill
- ORPHA:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:85451 ATTRV122I amyloidosis
- ORPHA:2134 Atypical hemolytic uremic syndrome
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:617006 Autoimmune disease, multisystem, infantile-onset, 2
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:228312 Autoimmune hemolytic anemia, cold type
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- ORPHA:2137 Autoimmune hepatitis
- 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
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- 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:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:79278 Autosomal erythropoietic protoporphyria
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:357058 Autosomal recessive cutis laxa type 2A
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:454836 Avian influenza
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Disease code
Disease name
- OMIM:151430 B-CELL CLL/LYMPHOMA 2
- OMIM:616452 B-cell expansion with NFKB and T-cell anergy
- OMIM:109543 B-CELL MALIGNANCY, LOW-GRADE
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:79332 B4GALT1-CDG
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- ORPHA:1225 Baller-Gerold syndrome
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- OMIM:210740 Bangstad syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:302060 Barth syndrome
- ORPHA:111 Barth syndrome
- OMIM:241200 Bartter syndrome, type 2
- ORPHA:166113 Bazex syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- OMIM:209970 Beemer lethal malformation syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- ORPHA:157997 Benign cephalic histiocytosis
- OMIM:231200 Bernard-Soulier syndrome
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:153670 Bernard-Soulier syndrome, type A2, autosomal dominant
- ORPHA:134 Beta-ketothiolase deficiency
- OMIM:613985 BETA-THALASSEMIA
- ORPHA:848 Beta-thalassemia
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- ORPHA:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- 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
- ORPHA:124 Blackfan-Diamond anemia
- ORPHA:90340 Blau syndrome
- OMIM:614201 Bleeding disorder, platelet-type, 11
- OMIM:605735 Bleeding disorder, platelet-type, 12
- OMIM:614009 Bleeding disorder, platelet-type, 13, susceptibility to
- OMIM:614158 Bleeding disorder, platelet-type, 14
- OMIM:615193 Bleeding disorder, platelet-type, 15
- OMIM:187800 Bleeding disorder, platelet-type, 16
- OMIM:187900 Bleeding disorder, platelet-type, 17
- OMIM:615888 Bleeding disorder, platelet-type, 18
- OMIM:616176 Bleeding disorder, platelet-type, 19
- OMIM:616913 Bleeding disorder, platelet-type, 20
- OMIM:617443 Bleeding disorder, platelet-type, 21
- OMIM:618462 Bleeding disorder, platelet-type, 22
- OMIM:619271 Bleeding disorder, platelet-type, 24, autosomal dominant
- OMIM:609821 Bleeding disorder, platelet-type, 8
- OMIM:614200 Bleeding disorder, platelet-type, 9
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:1059 Blue rubber bleb nevus
- OMIM:112200 Blue rubber bleb nevus
- ORPHA:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:620044 Bone marrow failure and diabetes mellitus syndrome
- OMIM:614675 Bone marrow failure syndrome 1
- 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
- OMIM:619980 Braddock-Carey syndrome 1
- OMIM:619981 Braddock-Carey syndrome 2
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:175780 Brain small vessel disease 1 with or without ocular anomalies
- OMIM:614483 Brain small vessel disease 2
- OMIM:607578 Breath-Holding spells
- ORPHA:90354 Brittle cornea syndrome
- OMIM:614170 Brittle cornea syndrome 2
- ORPHA:79493 Brooke-Spiegler syndrome
- ORPHA:1304 Brucellosis
- ORPHA:131 Budd-Chiari syndrome
- ORPHA:36258 Buerger disease
- ORPHA:280785 Bullous diffuse cutaneous mastocytosis
- ORPHA:543 Burkitt lymphoma
- OMIM:113970 Burkitt lymphoma
Disease code
Disease name
- ORPHA:329918 C3 glomerulopathy
- ORPHA:1310 Caffey disease
- OMIM:114065 Calcific aortic disease with immunologic abnormalities, familial
- ORPHA:1318 Campomelia, Cumming type
- OMIM:131300 Camurati-Engelmann disease
- 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
- ORPHA:160148 Cap polyposis
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- OMIM:114650 Car factor deficiency
- ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome
- OMIM:212060 Carbimazole sensitivity
- OMIM:615206 Card11 immunodeficiency
- ORPHA:1686 Cardiac diverticulum
- OMIM:618280 Cardiac-Urogenital syndrome
- ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome
- OMIM:613426 Cardiomyopathy, dilated, 1S
- OMIM:619897 Cardiomyopathy, dilated, 2G
- ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome
- ORPHA:1359 Carney complex
- ORPHA:139411 Carney triad
- ORPHA:97286 Carney-Stratakis syndrome
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- ORPHA:53035 Caroli disease
- ORPHA:480520 Caroli syndrome
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:175 Cartilage-hair hypoplasia
- ORPHA:160 Castleman disease
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- OMIM:608957 Cd8 deficiency, familial
- OMIM:212750 Celiac disease, susceptibility to, 1
- ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- ORPHA:411527 Central retinal vein occlusion
- OMIM:605714 Cerebral amyloid angiopathy, APP-related
- ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- OMIM:116860 Cerebral cavernous malformations 1
- OMIM:603284 Cerebral cavernous malformations 2
- OMIM:603285 Cerebral cavernous malformations 3
- ORPHA:447788 Cerebral visual impairment
- OMIM:612199 Cerebroretinal microangiopathy with calcifications and cysts
- OMIM:617341 Cerebroretinal microangiopathy with calcifications and cysts 2
- ORPHA:169079 Cernunnos-XLF deficiency
- OMIM:204200 Ceroid lipofuscinosis, neuronal, 3
- OMIM:609055 Ceroid lipofuscinosis, neuronal, 9
- OMIM:601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
- OMIM:275630 Chanarin-Dorfman syndrome
- OMIM:214800 Charge syndrome
- OMIM:214500 Chediak-Higashi syndrome
- ORPHA:167 Chédiak-Higashi syndrome
- ORPHA:324625 Chikungunya
- ORPHA:90280 Chilblain lupus
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:515000 Chloramphenicol toxicity
- OMIM:211600 Cholestasis, progressive familial intrahepatic 1
- OMIM:620010 Cholestasis, progressive familial intrahepatic, 12
- OMIM:617049 Cholestasis, progressive familial intrahepatic, 5
- OMIM:619484 Cholestasis, progressive familial intrahepatic, 6
- ORPHA:1414 Cholestasis-lymphedema syndrome
- OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome
- ORPHA:2388 Choreoacanthocytosis
- OMIM:200150 CHOREOACANTHOCYTOSIS
- OMIM:616604 Chromosome 14q32 duplication syndrome, 700-kb
- OMIM:614294 Chromosome 15q25 deletion syndrome
- OMIM:601808 Chromosome 18Q deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:153550 Chromosome 5q deletion syndrome
- OMIM:301069 Chromosome Xq13 duplication syndrome
- ORPHA:133 Chronic beryllium disease
- ORPHA:529808 Chronic bilirubin encephalopathy
- ORPHA:99921 Chronic graft versus host disease
- ORPHA:379 Chronic granulomatous disease
- OMIM:618935 Chronic granulomatous disease 5, autosomal recessive
- OMIM:306400 Chronic granulomatous disease, X-linked
- ORPHA:2978 Chronic intestinal pseudoobstruction
- ORPHA:521 Chronic myeloid leukemia
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:71 Chylomicron retention disease
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- OMIM:215550 Circumvallate placenta syndrome
- OMIM:118900 Cirrhosis, familial
- ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:57777 Cirrhotic cardiomyopathy
- ORPHA:79239 Classic galactosemia
- ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:394 Classic homocystinuria
- ORPHA:2584 Classic mycosis fungoides
- ORPHA:287 Classical Ehlers-Danlos syndrome
- ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2
- ORPHA:228346 CLN3 disease
- OMIM:619113 COACH syndrome 3
- ORPHA:90068 Cocaine intoxication
- ORPHA:228123 Coccidioidomycosis
- ORPHA:191 Cockayne syndrome
- ORPHA:90321 Cockayne syndrome type 1
- ORPHA:90324 Cockayne syndrome type 3
- OMIM:607426 Coenzyme Q10 deficiency, primary, 1
- ORPHA:435934 COG2-CDG
- ORPHA:263501 COG4-CDG
- ORPHA:95428 COG8-CDG
- ORPHA:1467 Cogan syndrome
- ORPHA:193 Cohen syndrome
- OMIM:216550 Cohen syndrome
- ORPHA:31824 Colchicine poisoning
- ORPHA:56425 Cold agglutinin disease
- OMIM:120440 Colonic varices without portal hypertension
- OMIM:233650 Combined cellular and humoral immune defects with granulomas
- ORPHA:35909 Combined deficiency of factor V and factor VIII
- 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:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
- OMIM:619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:615578 Combined oxidative phosphorylation deficiency 18
- OMIM:617872 Combined oxidative phosphorylation deficiency 34
- OMIM:618329 Combined oxidative phosphorylation deficiency 37
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:619386 Combined oxidative phosphorylation deficiency 52
- OMIM:619423 Combined oxidative phosphorylation deficiency 53
- OMIM:619737 Combined oxidative phosphorylation deficiency 54
- OMIM:619743 Combined oxidative phosphorylation deficiency 55
- ORPHA:1572 Common variable immunodeficiency
- OMIM:217000 Complement component 2 deficiency
- OMIM:614380 Complement component 4A deficiency
- OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:3319 Congenital amegakaryocytic thrombocytopenia
- ORPHA:86816 Congenital analbuminemia
- ORPHA:1195 Congenital atransferrinemia
- ORPHA:79301 Congenital bile acid synthesis defect type 1
- ORPHA:79303 Congenital bile acid synthesis defect type 2
- ORPHA:79095 Congenital bile acid synthesis defect type 4
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:602579 Congenital disorder of glycosylation, type Ib
- OMIM:603147 Congenital disorder of glycosylation, type Ic
- 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:608104 Congenital disorder of glycosylation, type Ih
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- OMIM:606056 Congenital disorder of glycosylation, type IIB
- OMIM:266265 Congenital disorder of glycosylation, type IIc
- OMIM:607091 Congenital disorder of glycosylation, type IID
- OMIM:603585 Congenital disorder of glycosylation, type IIf
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:614727 Congenital disorder of glycosylation, type IIK
- OMIM:614576 Congenital disorder of glycosylation, type IIl
- OMIM:301045 Congenital disorder of glycosylation, type IIr
- OMIM:618885 Congenital disorder of glycosylation, type IIt
- OMIM:619525 Congenital disorder of glycosylation, type IIw
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:614921 Congenital disorder of glycosylation, type It
- OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant
- OMIM:615597 Congenital disorder of glycosylation, type Ix
- OMIM:300934 Congenital disorder of glycosylation, type Iy
- ORPHA:98870 Congenital dyserythropoietic anemia type III
- ORPHA:103910 Congenital enterocyte heparan sulfate deficiency
- ORPHA:292 Congenital enterovirus infection
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:325 Congenital factor II deficiency
- ORPHA:326 Congenital factor V deficiency
- ORPHA:327 Congenital factor VII deficiency
- ORPHA:328 Congenital factor X deficiency
- ORPHA:329 Congenital factor XI deficiency
- ORPHA:330 Congenital factor XII deficiency
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:335 Congenital fibrinogen deficiency
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- OMIM:613679 Congenital prothrombin deficiency
- ORPHA:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:858 Congenital toxoplasmosis
- OMIM:121270 Copper deficiency, familial benign
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:611489 Corticosteroid-binding globulin deficiency
- ORPHA:54251 Corticosteroid-sensitive aseptic abscess syndrome
- OMIM:122700 Coumarin resistance
- OMIM:158350 Cowden syndrome 1
- OMIM:614378 Cranioectodermal dysplasia 4
- OMIM:114620 Craniofaciofrontodigital syndrome
- ORPHA:363705 Craniofaciofrontodigital syndrome
- ORPHA:99827 Crimean-Congo hemorrhagic fever
- ORPHA:2930 Cronkhite-Canada syndrome
- OMIM:123550 Cryoglobulinemia, familial mixed
- ORPHA:91138 Cryoglobulinemic vasculitis
- OMIM:185020 Cryohydrocytosis
- ORPHA:1546 Cryptococcosis
- ORPHA:1302 Cryptogenic organizing pneumonia
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- 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
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- ORPHA:889 Cutaneous small vessel vasculitis
- OMIM:612940 Cutis laxa, autosomal recessive, type IIB
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- OMIM:613977 Cyanosis, transient neonatal
- ORPHA:2686 Cyclic neutropenia
- OMIM:162800 Cyclic neutropenia
- ORPHA:400 Cystic echinococcosis
- OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation
- ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- ORPHA:1560 Cysticercosis
Disease code
Disease name
- ORPHA:300536 DDOST-CDG
- OMIM:124900 Deafness, autosomal dominant 1
- OMIM:221700 Deafness, neural, with atypical atopic dermatitis
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:3202 Dehydrated hereditary stomatocytosis
- OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- OMIM:616689 Dehydrated hereditary stomatocytosis 2
- ORPHA:231237 Delta-beta-thalassemia
- ORPHA:79134 DEND syndrome
- ORPHA:99828 Dengue fever
- ORPHA:49042 Dentinogenesis imperfecta
- ORPHA:1656 Dermatitis herpetiformis
- ORPHA:221 Dermatomyositis
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- ORPHA:99688 Dermotrichic syndrome
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:606176 Diabetes mellitus, permanent neonatal 1
- OMIM:618858 Diabetes mellitus, permanent neonatal 4
- OMIM:610582 Diabetes mellitus, transient neonatal, 3
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:615550 Diamond-Blackfan anemia 12
- OMIM:615909 Diamond-Blackfan anemia 13
- OMIM:300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:617408 Diamond-Blackfan anemia 16
- OMIM:617409 Diamond-Blackfan anemia 17
- OMIM:618310 Diamond-Blackfan anemia 18
- OMIM:618312 Diamond-Blackfan anemia 19
- OMIM:618313 Diamond-Blackfan anemia 20
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:610629 Diamond-Blackfan anemia 3
- OMIM:612527 Diamond-Blackfan anemia 4
- OMIM:612528 Diamond-Blackfan anemia 5
- OMIM:612561 Diamond-Blackfan anemia 6
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:612563 Diamond-Blackfan anemia 8
- OMIM:613308 Diamond-Blackfan anemia 9
- OMIM:617911 Diamond-Blackfan anemia-like
- OMIM:112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:188400 Digeorge syndrome
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:79168 Disorder of bile acid synthesis
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:18 Distal renal tubular acidosis
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:223340 Dk phocomelia syndrome
- OMIM:223350 Dohle bodies and leukemia
- ORPHA:231226 Dominant beta-thalassemia
- ORPHA:79500 DOORS syndrome
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:90037 Drug-induced autoimmune hemolytic anemia
- ORPHA:231111 Drug-induced lupus erythematosus
- ORPHA:234 Dubin-Johnson syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:97339 Dural sinus malformation
- OMIM:603529 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:616553 Dyskeratosis congenita, autosomal dominant 6
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- OMIM:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:616353 Dyskeratosis congenita, autosomal recessive 6
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2
- OMIM:613988 Dyskeratosis congenita, autosomal recessive, 3
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- ORPHA:168621 Dysplasia of head of femur, Meyer type
- ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa
Disease code
Disease name
- ORPHA:40923 Eales disease
- ORPHA:319218 Ebola hemorrhagic fever
- ORPHA:1880 Ebstein malformation of the tricuspid valve
- OMIM:300291 Ectodermal dysplasia and immunodeficiency 1
- ORPHA:231632 Ectopic aldosterone-producing tumor
- ORPHA:1896 EEC syndrome
- OMIM:225310 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:225320 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
- OMIM:130010 Ehlers-Danlos syndrome, classic type, 2
- OMIM:606408 Ehlers-Danlos syndrome, classic-like
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- 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:612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:97214 Eisenmenger syndrome
- OMIM:611804 Elliptocytosis 1
- OMIM:130600 Elliptocytosis 2
- OMIM:617948 Elliptocytosis-3
- ORPHA:289 Ellis Van Creveld syndrome
- ORPHA:83600 Encephalitis lethargica
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:602473 Encephalopathy, ethylmalonic
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:226150 ENTEROCOLITIS
- OMIM:600351 Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
- OMIM:261500 Eosinophil peroxidase deficiency
- OMIM:131400 Eosinophilia, familial
- ORPHA:3165 Eosinophilic fasciitis
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- OMIM:131430 EOSINOPHILOPENIA
- OMIM:618307 Epidermodysplasia verruciformis, susceptibility to, 4
- OMIM:618309 Epidermodysplasia verruciformis, susceptibility to, 5
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:131950 Epidermolysis bullosa simplex, Ogna type
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:254900 Epilepsy, progressive myoclonic, 4, with or without renal failure
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:616457 Epileptic encephalopathy, early infantile, 50
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:132500 Epistaxis, hereditary
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:90000 Erythema elevatum diutinum
- OMIM:617980 Erythrocytosis 6
- OMIM:617981 Erythrocytosis 7
- OMIM:133100 Erythrocytosis, familial, 1
- OMIM:263400 Erythrocytosis, familial, 2
- OMIM:609820 Erythrocytosis, familial, 3
- OMIM:611783 Erythrocytosis, familial, 4
- OMIM:617907 Erythrocytosis, familial, 5
- OMIM:222800 Erythrocytosis, familial, 8
- OMIM:133180 Erythroleukemia, familial, susceptibility to
- OMIM:610247 Esophagitis, eosinophilic, 1
- OMIM:613412 Esophagitis, eosinophilic, 2
- ORPHA:2056 Essential fructosuria
- ORPHA:3318 Essential thrombocythemia
- ORPHA:51188 Ethylmalonic encephalopathy
- ORPHA:1959 Evans syndrome
- ORPHA:466650 Exercise-induced malignant hyperthermia
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- ORPHA:494424 Extracranial carotid artery aneurysm
- OMIM:133780 Exudative vitreoretinopathy 1
- OMIM:601813 Exudative vitreoretinopathy 4
Disease code
Disease name
- OMIM:301500 Fabry disease
- ORPHA:324 Fabry disease
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- OMIM:134540 Factor IX and factor XI, combined deficiency of
- OMIM:227300 Factor V and factor VIII, combined deficiency of
- OMIM:613625 Factor V and factor VIII, combined deficiency of
- OMIM:227310 Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor
- OMIM:227400 Factor V deficiency
- OMIM:134400 Factor V excess with spontaneous thrombosis
- OMIM:134430 Factor VII and factor VIII, combined deficiency of
- OMIM:227500 Factor VII deficiency
- OMIM:227600 Factor X deficiency
- OMIM:612416 Factor XI deficiency
- OMIM:234000 Factor XII deficiency
- OMIM:613225 Factor XIII, A subunit, deficiency of
- OMIM:613235 Factor XIIIB deficiency
- OMIM:134520 Factors VIII, IX and XI, combined deficiency of
- ORPHA:88619 Familial acute necrotizing encephalopathy
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:98880 Familial afibrinogenemia
- ORPHA:615 Familial atrial myxoma
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:221061 Familial cerebral cavernous malformation
- ORPHA:231160 Familial cerebral saccular aneurysm
- ORPHA:36382 Familial cervical artery dissection
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- ORPHA:75376 Familial drusen
- ORPHA:98881 Familial dysfibrinogenemia
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:540 Familial hemophagocytic lymphohistiocytosis
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:397685 Familial hyperprolactinemia
- ORPHA:101041 Familial hypofibrinogenemia
- ORPHA:154 Familial isolated dilated cardiomyopathy
- ORPHA:75249 Familial isolated restrictive cardiomyopathy
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:624 Familial multiple nevi flammei
- ORPHA:90044 Familial pseudohyperkalemia
- ORPHA:69076 Familial renal glucosuria
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:71493 Familial thrombocytosis
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- 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:609054 Fanconi anemia, complementation group J
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617244 Fanconi anemia, complementation group R
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:616435 Fanconi anemia, complementation group T
- 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
- OMIM:153640 Fechtner syndrome
- OMIM:134750 Felty syndrome
- ORPHA:47612 Felty syndrome
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- ORPHA:294 Fetal cytomegalovirus syndrome
- ORPHA:85212 Fetal Gaucher disease
- OMIM:141749 Fetal hemoglobin quantitative trait locus 1
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:313855 FGFR2-related bent bone dysplasia
- OMIM:134900 Fibrinolytic defect
- ORPHA:337 Fibrodysplasia ossificans progressiva
- ORPHA:84090 Fibronectin glomerulopathy
- OMIM:618278 Fibrosis, neurodegeneration, and cerebral angiomatosis
- ORPHA:93323 Fibular hemimelia
- OMIM:228960 Flaujeac factor deficiency
- ORPHA:398189 Focal facial dermal dysplasia type IV
- OMIM:603278 Focal segmental glomerulosclerosis 1
- OMIM:229050 Folate malabsorption, hereditary
- ORPHA:545 Follicular lymphoma
- OMIM:613024 Follicular lymphoma, susceptibility to, 1
- ORPHA:51208 Formiminoglutamic aciduria
- OMIM:229100 Formiminotransferase deficiency
- OMIM:613606 Forsythe-Wakeling syndrome
- ORPHA:2795 Fowler urethral sphincter dysfunction syndrome
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:230000 FUCOSIDOSIS
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
- OMIM:264420 Fundus dystrophy, pseudoinflammatory, recessive form
- ORPHA:228119 Fusariosis
Disease code
Disease name
- ORPHA:90041 Gaisböck syndrome
- OMIM:230400 GALACTOSEMIA
- ORPHA:352 Galactosemia
- OMIM:137050 Gamma-A-Globulin, defect in assembly of
- OMIM:230450 Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- ORPHA:251992 Ganglioneuroma
- OMIM:619182 Gastric adenocarcinoma and proximal polyposis of the stomach
- OMIM:137245 Gastric lymphoma, primary
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- ORPHA:44890 Gastrointestinal stromal tumor
- OMIM:618372 Gastrointestinal ulceration, recurrent, with dysfunctional platelets
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- 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:51608 Generalized arterial calcification of infancy
- ORPHA:157991 Generalized eruptive histiocytosis
- ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli
- ORPHA:99845 Genetic recurrent myoglobinuria
- OMIM:231095 Ghosal hematodiaphyseal dysplasia
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- ORPHA:397 Giant cell arteritis
- OMIM:137500 Giant neutrophil leukocytes
- OMIM:137560 Giant platelet syndrome with thrombocytopenia
- ORPHA:358 Gitelman syndrome
- OMIM:273800 Glanzmann thrombasthenia
- ORPHA:849 Glanzmann thrombasthenia
- OMIM:619267 Glanzmann thrombasthenia 2
- OMIM:616568 Glioma susceptibility 9
- OMIM:137900 Globulin anomaly involving beta (2a)-globulin
- ORPHA:97280 Glucagonoma
- OMIM:612126 Glut1 deficiency syndrome 2
- ORPHA:33574 Glutamate-cysteine ligase deficiency
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:614164 Glutathione peroxidase deficiency
- ORPHA:32 Glutathione synthetase deficiency
- OMIM:266130 Glutathione synthetase deficiency
- ORPHA:57 Glycogen storage disease due to aldolase A 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:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:371 Glycogen storage disease due to muscle phosphofructokinase deficiency
- ORPHA:713 Glycogen storage disease due to phosphoglycerate kinase 1 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:232800 Glycogen storage disease VII
- OMIM:611881 Glycogen storage disease XII
- OMIM:610293 Glycosylphosphatidylinositol deficiency
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:230600 GM1-gangliosidosis, type II
- ORPHA:169105 Good syndrome
- OMIM:233450 Goodpasture syndrome
- 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:607624 Griscelli syndrome, type 2
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
Disease code
Disease name
- ORPHA:168569 H syndrome
- OMIM:234350 Halothane hepatitis
- OMIM:611174 Hamamy syndrome
- OMIM:618892 Harderoporphyria
- OMIM:301068 Hardikar syndrome
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:140700 Heinz body anemias
- ORPHA:244242 HELLP syndrome
- OMIM:141000 Hemangioma-Thrombocytopenia syndrome
- OMIM:614034 Heme oxygenase-1 deficiency
- OMIM:231100 Hemochromatosis, neonatal
- OMIM:613313 Hemochromatosis, type 2B
- OMIM:604250 Hemochromatosis, type 3
- OMIM:606069 Hemochromatosis, type 4
- 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
- OMIM:142000 Hemoglobin-Delta locus
- OMIM:142309 Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain
- OMIM:301083 Hemolytic anemia due to elevated adenosine deaminase
- OMIM:618660 Hemolytic anemia due to glutathione reductase deficiency
- OMIM:231900 Hemolytic anemia due to glutathione synthetase deficiency
- ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency
- OMIM:235370 Hemolytic anemia with thermal sensitivity of red cells
- OMIM:612300 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
- OMIM:301015 Hemolytic anemia, congenital, X-linked
- 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: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:612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4
- OMIM:612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5
- OMIM:612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6
- 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
- OMIM:306930 Hemopoietic proliferation
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:235500 Hemosiderosis, pulmonary, with deficiency of gamma-A globulin
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- OMIM:612356 Heparin cofactor II deficiency
- ORPHA:3325 Heparin-induced thrombocytopenia
- ORPHA:890 Hepatic veno-occlusive disease
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:64743 Hepatoportal sclerosis
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:85450 Hereditary amyloidosis with primary renal involvement
- ORPHA:676 Hereditary chronic pancreatitis
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:469 Hereditary fructose intolerance
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:621 Hereditary methemoglobinemia
- ORPHA:157794 Hereditary mixed polyposis syndrome
- 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:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:158025 Hereditary progressive mucinous histiocytosis
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:822 Hereditary spherocytosis
- ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:619172 Hermansky-Pudlak syndrome 11
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:614072 Hermansky-Pudlak syndrome 3
- OMIM:614073 Hermansky-Pudlak syndrome 4
- OMIM:614074 Hermansky-Pudlak syndrome 5
- OMIM:614075 Hermansky-Pudlak syndrome 6
- OMIM:614076 Hermansky-Pudlak syndrome 7
- OMIM:614077 Hermansky-Pudlak syndrome 8
- OMIM:614171 Hermansky-Pudlak syndrome 9
- ORPHA:1930 Herpes simplex virus encephalitis
- OMIM:300049 Heterotopia, periventricular, X-linked dominant
- ORPHA:137675 Histiocytoid cardiomyopathy
- 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
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:622 Homocystinuria without methylmalonic aciduria
- OMIM:236270 Homocystinuria-megaloblastic anemia, cbl E type
- OMIM:250940 Homocystinuria-megaloblastic anemia, cblg Complementation type
- ORPHA:3322 Hoyeraal-Hreidarsson syndrome
- ORPHA:391457 HSD10 disease, neonatal type
- ORPHA:228116 Hughes-Stovin syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- ORPHA:99927 Hydatidiform mole
- ORPHA:2177 Hydranencephaly
- ORPHA:1041 Hydrops fetalis
- OMIM:236750 Hydrops fetalis, nonimmune
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- 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
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:237800 Hyperbilirubinemia, shunt, primary
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- OMIM:144050 HYPERHEPARINEMIA
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- OMIM:238700 Hyperlysinemia, type I
- OMIM:613280 Hypermanganesemia with dystonia 1
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- ORPHA:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- OMIM:239200 Hyperparathyroidism, neonatal severe
- OMIM:615555 HYPERPROLACTINEMIA
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- OMIM:615558 Hypobetalipoproteinemia, familial, 1
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:722 Hypoplasminogenemia
- OMIM:607236 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- ORPHA:90368 Hypotrichosis simplex of the scalp
Disease code
Disease name
- ORPHA:2268 ICF syndrome
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:79503 Ichthyosis hystrix of Curth-Macklin
- OMIM:604777 Ichthyosis, congenital, autosomal recessive 5
- OMIM:607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- ORPHA:88621 Ichthyosis-prematurity syndrome
- ORPHA:724 Idiopathic acute eosinophilic pneumonia
- ORPHA:88 Idiopathic aplastic anemia
- ORPHA:2902 Idiopathic chronic eosinophilic pneumonia
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- 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:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
- 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
- OMIM:618882 Imerslund-Grasbeck syndrome 2
- 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
- ORPHA:3002 Immune thrombocytopenia
- OMIM:612783 Immunodeficiency 10
- OMIM:301082 Immunodeficiency 102
- OMIM:619924 Immunodeficiency 105, severe combined
- 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:614162 Immunodeficiency 31C
- 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:616433 Immunodeficiency 40
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:241600 Immunodeficiency 43
- OMIM:616636 Immunodeficiency 44
- 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: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: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:619126 Immunodeficiency 75
- OMIM:619164 Immunodeficiency 76
- 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: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
- 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: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
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- ORPHA:98848 Indolent systemic mastocytosis
- ORPHA:1909 Indomethacin embryofetopathy
- OMIM:615438 Infantile liver failure syndrome 1
- OMIM:616483 Infantile liver failure syndrome 2
- OMIM:618641 Infantile liver failure syndrome 3
- OMIM:269920 Infantile sialic acid storage disease
- 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:619398 Inflammatory bowel disease (infantile ulcerative colitis) 31
- OMIM:191390 Inflammatory bowel disease 11
- OMIM:613148 Inflammatory bowel disease 28, early onset, autosomal recessive
- OMIM:618213 Inflammatory bowel disease, immunodeficiency, and encephalopathy
- ORPHA:90003 Inflammatory pseudotumor of the liver
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- ORPHA:247257 Inhalational anthrax
- ORPHA:411593 Insulin autoimmune syndrome
- ORPHA:2298 Insulin-resistance syndrome type B
- OMIM:618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa
- ORPHA:210110 Intermediate osteopetrosis
- ORPHA:981 Internal carotid absence
- OMIM:615486 Interstitial lung and liver disease
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- OMIM:600546 Intrauterine growth retardation with increased mitomycin C sensitivity
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- OMIM:243320 Intrinsic factor and R binder, combined congenital deficiency of
- OMIM:261000 Intrinsic factor deficiency
- OMIM:206200 Iron-Refractory iron deficiency anemia
- OMIM:611283 Isobutyryl-CoA dehydrogenase deficiency
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:30391 Isolated biliary atresia
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- ORPHA:2924 Isolated polycystic liver disease
- ORPHA:440713 Isolated sedoheptulokinase 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:90647 Jervell and Lange-Nielsen syndrome
- ORPHA:33314 Jessner lymphocytic infiltration of the skin
- ORPHA:2315 Johanson-Blizzard syndrome
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- OMIM:618795 Juvenile arthritis
- ORPHA:93672 Juvenile dermatomyositis
- OMIM:607785 Juvenile myelomonocytic leukemia
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA:26137 Juvenile temporal arteritis
- ORPHA:158000 Juvenile xanthogranuloma
Disease code
Disease name
- OMIM:147920 Kabuki syndrome 1
- ORPHA:33276 Kaposi sarcoma
- ORPHA:464329 Kaposiform lymphangiomatosis
- ORPHA:2330 Kasabach-Merritt syndrome
- ORPHA:2331 Kawasaki disease
- OMIM:530000 Kearns-Sayre syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- ORPHA:50918 Kikuchi-Fujimoto disease
- ORPHA:482 Kimura disease
- ORPHA:2908 Kindler epidermolysis bullosa
- ORPHA:99978 Klatskin tumor
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- OMIM:245200 Krabbe disease
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Disease code
Disease name
- ORPHA:1296 Lambert syndrome
- ORPHA:99824 Lassa fever
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- ORPHA:650 LCAT deficiency
- ORPHA:330015 Lead poisoning
- OMIM:245900 Lecithin:cholesterol acyltransferase deficiency
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- ORPHA:506 Leigh syndrome
- ORPHA:70474 Leigh syndrome with cardiomyopathy
- ORPHA:255241 Leigh syndrome with leukodystrophy
- ORPHA:507 Leishmaniasis
- ORPHA:548 Leprosy
- ORPHA:509 Leptospirosis
- ORPHA:510 Lesch-Nyhan syndrome
- OMIM:300322 Lesch-Nyhan syndrome
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:615368 Lethal congenital contracture syndrome 5
- 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:151500 Leukocyte nuclear appendages, hereditary prevalence of
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- ORPHA:542310 Leukoencephalopathy with calcifications and cysts
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:46488 Linear IgA dermatosis
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:613327 Lipodystrophy, congenital generalized, type 4
- ORPHA:533 Listeriosis
- ORPHA:542643 Livedoid vasculopathy
- OMIM:619991 Liver disease, severe congenital
- OMIM:613070 Liver failure, infantile, transient
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:75566 Loeffler endocarditis
- ORPHA:60030 Loeys-Dietz syndrome
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:615582 Loeys-Dietz syndrome 5
- ORPHA:319213 Lujo hemorrhagic fever
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:152800 Lymphangiectasia, intestinal
- ORPHA:538 Lymphangioleiomyomatosis
- ORPHA:2035 Lymphatic filariasis
- OMIM:617300 Lymphatic malformation 7
- OMIM:616843 Lymphedema, hereditary, III
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- OMIM:247640 Lymphoblastic leukemia, acute, with lymphomatous features
- OMIM:247630 Lymphoid system deterioration, progressive
- OMIM:236000 Lymphoma, hodgkin
- OMIM:605027 Lymphoma, non-hodgkin, familial
- 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:144 Lynch syndrome
- 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:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:600084 Macrocytosis, familial
- OMIM:153600 Macroglobulinemia, Waldenstrom, somatic
- ORPHA:158061 Macrophage activation syndrome
- OMIM:248100 Macrosomia adiposa congenita
- OMIM:155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- OMIM:613112 Macrothrombocytopenia, autosomal dominant, tubb1-related
- OMIM:619840 Macrothrombocytopenia, isolated, 2, autosomal dominant
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- OMIM:603075 Macular degeneration, age-related, 1
- ORPHA:163634 Maffucci syndrome
- OMIM:609628 Majeed syndrome
- ORPHA:77297 Majeed syndrome
- ORPHA:556 Malakoplakia
- ORPHA:673 Malaria
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:679 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- OMIM:145600 Malignant hyperthermia, susceptibility to, 1
- ORPHA:168811 Malignant peritoneal mesothelioma
- ORPHA:52417 MALT lymphoma
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- ORPHA:52416 Mantle cell lymphoma
- ORPHA:99826 Marburg hemorrhagic fever
- OMIM:616914 Marfan lipodystrophy syndrome
- ORPHA:561 Marshall-Smith syndrome
- ORPHA:66661 Mast cell sarcoma
- ORPHA:98292 Mastocytosis
- OMIM:154800 Mastocytosis, cutaneous
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96180 Maternal uniparental disomy of chromosome 4
- ORPHA:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:562 McCune-Albright syndrome
- OMIM:300842 Mcleod syndrome
- ORPHA:616 Medulloblastoma
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:261100 Megaloblastic anemia 1
- OMIM:613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- OMIM:601775 Megaloblastic anemia, folate-responsive
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:31825 Methanol poisoning
- OMIM:250700 Methemoglobin reductase deficiency
- OMIM:250790 Methemoglobinemia and ambiguous genitalia
- OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase
- OMIM:617973 Methemoglobinemia, Alpha type
- OMIM:617971 Methemoglobinemia, Beta type
- 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
- ORPHA:79283 Methylmalonic acidemia with homocystinuria, type cblD
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- OMIM:277410 Methylmalonic aciduria and homocystinuria, Cbld 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
- OMIM:610377 Mevalonic aciduria
- ORPHA:79329 MGAT2-CDG
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:727 Microscopic polyangiitis
- ORPHA:2552 Microsporidiosis
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:617053 Mirage syndrome
- OMIM:276300 Mismatch repair cancer syndrome 1
- OMIM:619096 Mismatch repair cancer syndrome 2
- OMIM:619097 Mismatch repair cancer syndrome 3
- OMIM:619101 Mismatch repair cancer syndrome 4
- OMIM:611126 Mitochondrial complex I deficiency, nuclear type 20
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:615838 Mitochondrial complex III deficiency, nuclear type 8
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12
- OMIM:619355 Mitochondrial complex IV deficiency, nuclear type 22
- OMIM:619046 Mitochondrial complex IV deficiency, nuclear type 3
- OMIM:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:618972 Mitochondrial DNA depletion syndrome 19
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:809 Mixed connective tissue disease
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:552 MODY
- ORPHA:79330 MOGS-CDG
- ORPHA:52368 Mohr-Tranebjaerg syndrome
- OMIM:252250 Monocyte chemotactic disorder
- ORPHA:96168 Monosomy 13q34
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- ORPHA:2152 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- ORPHA:401945 Moyamoya disease with early-onset achalasia
- ORPHA:79319 MPI-CDG
- ORPHA:100024 Mu-heavy chain disease
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:587 Muir-Torre syndrome
- ORPHA:139436 Multicentric reticulohistiocytosis
- ORPHA:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- ORPHA:652 Multiple endocrine neoplasia type 1
- OMIM:254500 Multiple myeloma
- ORPHA:29073 Multiple myeloma
- ORPHA:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
- OMIM:253600 Muscular dystrophy, limb-girdle, type 2A
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan
- ORPHA:589 Myasthenia gravis
- OMIM:254400 Mycosis fungoides
- OMIM:600080 Myelocytic leukemia-like syndrome, familial, chronic
- OMIM:252270 Myelodysplasia and leukemia syndrome with monosomy 7
- OMIM:614286 Myelodysplastic syndrome
- 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
- OMIM:255125 Myopathy with exercise intolerance, Swedish type
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
- OMIM:613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
Disease code
Disease name
- ORPHA:2608 N syndrome
- OMIM:310465 N syndrome
- ORPHA:2770 Nasu-Hakola disease
- ORPHA:542592 Necrobiosis lipoidica
- ORPHA:391673 Necrotizing enterocolitis
- ORPHA:199244 Nelson syndrome
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:655 Nephronophthisis
- OMIM:256100 Nephronophthisis 1
- OMIM:613550 Nephronophthisis 11
- OMIM:606966 Nephronophthisis 4
- ORPHA:2668 Nephropathy-deafness-hyperparathyroidism syndrome
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:615008 Nephrotic syndrome, type 7
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- OMIM:256550 Neuraminidase deficiency
- OMIM:256700 Neuroblastoma, susceptibility to
- ORPHA:2481 Neurocutaneous melanocytosis
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- 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:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- 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:99811 Neuronal intestinal pseudoobstruction
- OMIM:620080 Neuronopathy, distal hereditary motor, type X
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- 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
- ORPHA:183707 Neutrophil immunodeficiency syndrome
- OMIM:162830 Neutrophilia, hereditary
- OMIM:608068 Neutrophilic dermatosis, acute febrile
- OMIM:614323 Nevoid hypermelanosis, linear and whorled
- 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:263665 NK-cell enteropathy
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:91349 Non-functioning pituitary adenoma
- ORPHA:141179 Non-involuting congenital hemangioma
- ORPHA:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM: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:610733 Noonan syndrome 4
- OMIM:613224 Noonan syndrome 6
- OMIM:616559 Noonan syndrome 9
- ORPHA:500 Noonan syndrome with multiple lentigines
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis
- 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:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- OMIM:257790 Oculocerebral hypopigmentation syndrome of preus
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:300855 Ogden syndrome
- OMIM:613949 Okt4 epitope deficiency
- OMIM:617062 Okur-Chung neurodevelopmental syndrome
- ORPHA:296 Ollier disease
- OMIM:603554 Omenn syndrome
- ORPHA:39041 Omenn syndrome
- OMIM:258360 Onychotrichodysplasia and neutropenia
- OMIM:311250 Ornithine transcarbamylase deficiency, hyperammonemia due to
- OMIM:258900 Orotic aciduria
- OMIM:618182 Orthostatic hypotension 2
- OMIM:143850 Orthostatic hypotensive disorder, Streeten type
- OMIM:165660 Oslam syndrome
- ORPHA:2760 OSLAM syndrome
- OMIM:166990 Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension
- ORPHA:666 Osteogenesis imperfecta
- OMIM:166200 Osteogenesis imperfecta, type I
- OMIM:610968 Osteogenesis imperfecta, type XI
- OMIM:616229 Osteogenesis imperfecta, type XVI
- OMIM:616507 Osteogenesis imperfecta, type XVII
- 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:166900 Ovalocytosis, hereditary hemolytic
- OMIM:166910 Ovalocytosis, hereditary hemolytic, with defective erythropoiesis
- 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:144200 Palmoplantar keratoderma, epidermolytic
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- OMIM:609069 Pancreatic and cerebellar agenesis
- ORPHA:309108 Pancreatic colipase deficiency
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- ORPHA:309031 Pancreatic triacylglycerol lipase deficiency
- OMIM:167800 Pancreatitis, hereditary
- ORPHA:95513 Panhypophysitis
- ORPHA:97336 Panner disease
- ORPHA:90159 Panniculitis-induced localized lipodystrophy
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- ORPHA:158008 Papular xanthoma
- ORPHA:63455 Paraneoplastic pemphigus
- ORPHA:90307 Parkes Weber syndrome
- ORPHA:90035 Paroxysmal cold hemoglobinuria
- ORPHA:447 Paroxysmal nocturnal hemoglobinuria
- OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2
- ORPHA:251004 Paternal uniparental disomy of chromosome 1
- ORPHA:93126 Pauci-immune glomerulonephritis
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- OMIM:169200 Pechet factor deficiency
- ORPHA:33402 Pediatric hepatocellular carcinoma
- ORPHA:93552 Pediatric systemic lupus erythematosus
- ORPHA:525731 Pediatric-onset Graves disease
- OMIM:270300 Peeling skin syndrome 1
- OMIM:169400 Pelger-Huet anomaly
- ORPHA:79481 Pemphigus foliaceus
- OMIM:142680 Periodic fever, familial, autosomal dominant
- OMIM:150550 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:616539 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:168816 Peritoneal cystic mesothelioma
- ORPHA:98892 Periventricular nodular heterotopia
- OMIM:170900 Pernicious anemia
- OMIM:266510 Peroxisome biogenesis disorder 3B
- ORPHA:91495 Persistent hyperplastic primary vitreous
- OMIM:221900 Persistent hyperplastic primary vitreous, autosomal recessive
- OMIM:606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS
- ORPHA:2869 Peutz-Jeghers syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- ORPHA:443811 PGM3-CDG
- ORPHA:209959 Phacoanaphylactic uveitis
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- OMIM:601815 Phosphoglycerate dehydrogenase deficiency
- OMIM:300653 Phosphoglycerate kinase 1 deficiency
- OMIM:609049 Pierson syndrome
- OMIM:610489 Pigmented nodular adrenocortical disease, primary, 1
- OMIM:610475 Pigmented nodular adrenocortical disease, primary, 2
- OMIM:615830 Pigmented nodular adrenocortical disease, primary, 4
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- ORPHA:95613 Pituitary apoplexy
- ORPHA:91350 Pituitary deficiency due to Rathke cleft cysts
- ORPHA:707 Plague
- OMIM:262800 Plasma clot retraction factor, deficiency of
- OMIM:262850 Plasmin inhibitor deficiency
- OMIM:613329 Plasminogen activator inhibitor-1 deficiency
- OMIM:217090 Plasminogen deficiency, type I
- OMIM:173400 Platelet aggregation, spontaneous
- OMIM:601399 Platelet disorder, familial, with associated myeloid malignancy
- OMIM:173420 Platelet disorder, undefined
- OMIM:173450 Platelet factor 3 deficiency
- OMIM:608404 Platelet glycoprotein IV deficiency
- OMIM:173580 Platelet responsiveness to adrenaline, depressed
- OMIM:173590 Platelet signal processing defect
- ORPHA:54028 Plummer-Vinson syndrome
- ORPHA:79318 PMM2-CDG
- ORPHA:723 Pneumocystosis
- ORPHA:2905 POEMS syndrome
- OMIM:604173 Poikiloderma with neutropenia
- ORPHA:2911 Poland syndrome
- OMIM:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- ORPHA:729 Polycythemia vera
- OMIM:263300 Polycythemia vera
- ORPHA:180229 Polyembryoma
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:618343 Polymicrogyria with or without vascular-type EDS
- ORPHA:732 Polymyositis
- ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- OMIM:619301 Pontocerebellar hypoplasia, type 14
- OMIM:619302 Pontocerebellar hypoplasia, type 15
- OMIM:618428 Popov-Chang syndrome
- ORPHA:101330 Porphyria cutanea tarda
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:612740 Porphyria, acute hepatic
- OMIM:263700 Porphyria, congenital erythropoietic
- OMIM:619463 Portal hypertension, noncirrhotic, 2
- ORPHA:48435 Postinfectious vasculitis
- ORPHA:52022 Potocki-Shaffer syndrome
- ORPHA:97278 PPoma
- ORPHA:275555 Preeclampsia
- OMIM:189800 Preeclampsia/eclampsia 1
- OMIM:612423 Prekallikrein deficiency
- OMIM:601811 Premature aging syndrome, Okamoto type
- ORPHA:140989 Primary angiitis of the central nervous system
- ORPHA:186 Primary biliary cholangitis
- ORPHA:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- ORPHA:48686 Primary effusion lymphoma
- ORPHA:90026 Primary erythromelalgia
- ORPHA:90042 Primary familial polycythemia
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- ORPHA:93598 Primary hyperoxaluria type 1
- ORPHA:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:54370 Primary membranoproliferative glomerulonephritis
- ORPHA:824 Primary myelofibrosis
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- OMIM:176630 Primary release disorder of platelets
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:565612 Primary triglyceride deposit cardiomyovasculopathy
- ORPHA:231580 Primary unilateral adrenal hyperplasia
- OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- OMIM:170100 Prolidase deficiency
- OMIM:606054 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
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:411696 Proton-pump inhibitor-responsive esophageal eosinophilia
- OMIM:177000 Protoporphyria, erythropoietic, 1
- OMIM:618015 Protoporphyria, erythropoietic, 2
- OMIM:300752 Protoporphyria, erythropoietic, X-linked
- OMIM:618886 Pseudo-Torch syndrome 3
- OMIM:177820 Pseudo-Von willebrand disease
- OMIM:609153 Pseudohyperkalemia, familial, 2, due to red cell leak
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- OMIM:610842 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
- ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis
- OMIM:614204 Psoriasis 14, pustular
- OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia
- ORPHA:2038 Pulmonary arteriovenous malformation
- 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:618674 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
- OMIM:619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- OMIM:178500 Pulmonary fibrosis, idiopathic
- ORPHA:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- OMIM:178550 Pulmonary hemosiderosis
- OMIM:178600 Pulmonary hypertension, primary, 1
- OMIM:615344 Pulmonary hypertension, primary, 4
- ORPHA:60026 Pulmonary nodular lymphoid hyperplasia
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- OMIM:179000 Purpura simplex
- 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:79096 Pyridoxal phosphate-responsive seizures
- OMIM:610090 Pyridoxamine 5-prime-phosphate oxidase deficiency
- OMIM:266140 Pyropoikilocytosis, hereditary
- ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
- OMIM:266200 Pyruvate kinase deficiency of red cells
Disease code
Disease name
Disease code
Disease name
- ORPHA:70475 Radiation proctitis
- ORPHA:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- OMIM:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia
- 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:141184 Rapidly involuting congenital hemangioma
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:1929 Rasmussen subacute encephalitis
- ORPHA:31205 Rat-bite fever
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- OMIM:179650 Red cell permeability defect
- 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:91547 Relapsing fever
- ORPHA:728 Relapsing polychondritis
- ORPHA:97362 Renal hypoplasia, bilateral
- ORPHA:71273 Renal nutcracker syndrome
- OMIM:611590 Renal tubular acidosis, distal, with hemolytic anemia
- OMIM:604278 Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation
- OMIM:267450 Respiratory distress syndrome in premature infants
- OMIM:267500 Reticular dysgenesia
- ORPHA:33355 Reticular dysgenesis
- OMIM:312500 Reticuloendotheliosis, X-linked
- OMIM:180000 Retinal arteries, tortuosity of
- ORPHA:71213 Retinal capillary malformation
- OMIM:267900 Retinal telangiectasia and hypogammaglobulinemia
- ORPHA:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- OMIM:180080 Retinal venous beading
- OMIM:616959 Retinitis pigmentosa and erythrocytic microcytosis
- OMIM:180200 RETINOBLASTOMA
- ORPHA:790 Retinoblastoma
- ORPHA:90050 Retinopathy of prematurity
- OMIM:312700 Retinoschisis 1, X-linked, juvenile
- ORPHA:284388 Reversible cerebral vasoconstriction syndrome
- OMIM:268130 Revesz syndrome
- OMIM:613471 Reynolds syndrome
- ORPHA:244310 RFT1-CDG
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:69077 Rhabdoid tumor
- ORPHA:3099 Rheumatic fever
- ORPHA:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- OMIM:180350 Rheumatoid nodulosis
- OMIM:618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- OMIM:611943 Riddle syndrome
- ORPHA:420741 RIDDLE syndrome
- ORPHA:319251 Rift valley fever
- ORPHA:217335 RIN2 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- ORPHA:1445 Ring chromosome 21 syndrome
- ORPHA:3103 Roberts syndrome
- ORPHA:529 Roch-Leri mesosomatous lipomatosis
- OMIM:616651 Roifman syndrome
- ORPHA:353298 Roifman 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:180849 Rubinstein-Taybi syndrome 1
Disease code
Disease name
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:604369 Salla disease
- ORPHA:71272 Sandifer syndrome
- ORPHA:793 SAPHO syndrome
- ORPHA:797 Sarcoidosis
- OMIM:181000 Sarcoidosis, susceptibility to, 1
- OMIM:618150 Saul-Wilson syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- ORPHA:449280 Scedosporiosis
- ORPHA:1830 Schimke immuno-osseous dysplasia
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:37748 Schnitzler syndrome
- OMIM:600802 Scid, autosomal recessive, T-Negative/b-Positive type
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- ORPHA:466677 Scorpion envenomation
- OMIM:262890 Scott syndrome
- ORPHA:83317 Scrub typhus
- OMIM:269600 Sea-Blue histiocyte disease
- ORPHA:158029 Sea-blue histiocytosis
- OMIM:210600 Seckel syndrome 1
- OMIM:617253 Seckel syndrome 10
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:399180 Secondary non-traumatic avascular necrosis
- ORPHA:95427 Secondary short bowel syndrome
- OMIM:269650 Secretory component deficiency
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- OMIM:212350 Sengers syndrome
- ORPHA:84081 Senior-Boichis syndrome
- OMIM:266900 Senior-Loken syndrome 1
- OMIM:606996 Senior-Loken syndrome 4
- ORPHA:90051 Sepsis in premature infants
- ORPHA:43116 Serotonin syndrome
- ORPHA:157798 Serrated polyposis 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:745 Severe hereditary thrombophilia due to congenital protein C deficiency
- ORPHA:743 Severe hereditary thrombophilia due to congenital protein S deficiency
- ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- 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:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:614800 Short stature, optic nerve atrophy, and pelger-huet anomaly
- ORPHA:935 Short-limb skeletal dysplasia with severe combined immunodeficiency
- 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:87876 Sialidosis type 2
- 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:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:210250 Sitosterolemia 1
- ORPHA:1858 Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- ORPHA:238459 SLC35A1-CDG
- ORPHA:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- OMIM:616638 Smith-Kingsmore syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:820 Sneddon syndrome
- OMIM:182410 Sneddon syndrome
- ORPHA:209964 Solitary rectal ulcer syndrome
- OMIM:109270 Solute carrier family 4 (anion exchanger), member 1
- ORPHA:97283 Somatostatinoma
- ORPHA:821 Sotos syndrome
- ORPHA:2572 Spastic ataxia-corneal dystrophy syndrome
- OMIM:601608 Spastic paraplegia and Evans syndrome
- OMIM:245480 Specific granule deficiency
- OMIM:617475 Specific granule deficiency 2
- OMIM:270970 Spherocytosis, autosomal recessive
- OMIM:182900 Spherocytosis, type 1
- OMIM:616649 Spherocytosis, type 2
- OMIM:612653 Spherocytosis, type 4
- OMIM:612690 Spherocytosis, type 5
- OMIM:606002 Spinocerebellar ataxia, autosomal recessive 1
- 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
- ORPHA:93357 SPONASTRIME dysplasia
- ORPHA:1855 Spondyloenchondrodysplasia
- OMIM:607944 Spondyloenchondrodysplasia with immune dysregulation
- OMIM:618728 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
- OMIM:618162 Spondyloepimetaphyseal dysplasia, Krakow type
- OMIM:271510 Spondyloepimetaphyseal dysplasia, Sponastrime type
- ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- ORPHA:424019 Squamous cell carcinoma of the anal canal
- ORPHA:324737 SRD5A3-CDG
- ORPHA:370927 SSR4-CDG
- 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: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
- ORPHA:370924 STT3B-CDG
- ORPHA:3205 Sturge-Weber syndrome
- OMIM:619751 Stuve-Wiedemann syndrome 2
- ORPHA:206594 Subacute inflammatory demyelinating polyneuropathy
- ORPHA:48377 Subcorneal pustular dermatosis
- ORPHA:86884 Subcutaneous panniculitis-like T-cell lymphoma
- OMIM:185460 Sulfhemoglobinemia, congenital
- ORPHA:247245 Superficial siderosis
- ORPHA:3243 Sweet syndrome
- 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:301080 Systemic lupus erythematosus 17
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:90291 Systemic sclerosis
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:66529 Tako-Tsubo cardiomyopathy
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- ORPHA:31150 Tangier disease
- ORPHA:2886 TARP syndrome
- OMIM:272650 Tatsumi factor deficiency
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- OMIM:187300 Telangiectasia, hereditary hemorrhagic, type 1
- OMIM:600376 Telangiectasia, hereditary hemorrhagic, type 2
- OMIM:610655 Telangiectasia, hereditary hemorrhagic, type 4
- OMIM:615506 Telangiectasia, hereditary hemorrhagic, type 5
- ORPHA:284227 TEMPI syndrome
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- ORPHA:199310 Tetragametic chimerism
- OMIM:187550 Thalassemia, beta+, silent allele
- OMIM:603902 Thalassemia-beta, dominant inclusion-body
- OMIM:273680 Thanatophoric dysplasia, glasgow variant
- ORPHA:49827 Thiamine-responsive megaloblastic anemia syndrome
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- OMIM:610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
- ORPHA:97330 Thoracic outlet syndrome
- OMIM:187950 Thrombocythemia 1
- OMIM:601977 Thrombocythemia 2
- OMIM:614521 Thrombocythemia 3
- OMIM:313900 Thrombocytopenia 1
- OMIM:188000 Thrombocytopenia 2
- OMIM:273900 Thrombocytopenia 3
- OMIM:612004 Thrombocytopenia 4
- OMIM:616216 Thrombocytopenia 5
- OMIM:616937 Thrombocytopenia 6
- OMIM:314050 Thrombocytopenia with beta-thalassemia, X-linked
- ORPHA:67044 Thrombocytopenia with congenital dyserythropoietic anemia
- OMIM:314000 Thrombocytopenia with elevated serum IgA and renal disease
- OMIM:617441 Thrombocytopenia, anemia, and myelofibrosis
- OMIM:619130 Thrombocytopenia, autosomal dominant, 7
- OMIM:188025 Thrombocytopenia, Paris-Trousseau type
- OMIM:300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- OMIM:188030 Thrombocytopenic purpura, autoimmune
- OMIM:301071 Thrombophilia 13, X-linked, due to factor VIII defect
- OMIM:612348 Thrombophilia due to decreased release of tissue plasminogen
- OMIM:188055 Thrombophilia due to deficiency of activated protein C cofactor
- OMIM:613116 Thrombophilia due to histidine-rich glycoprotein deficiency
- OMIM:612304 Thrombophilia due to protein C deficiency, autosomal recessive
- OMIM:614514 Thrombophilia due to protein S deficiency, autosomal recessive
- OMIM:614486 Thrombophilia due to thrombomodulin defect
- OMIM:176860 Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant
- OMIM:612336 Thrombophilia, hereditary, due to protein S deficiency, autosomal
- OMIM:300807 Thrombophilia, X-linked, due to factor IX defect
- OMIM:188050 Thrombophiliavenous thromboembolism, included
- ORPHA:54057 Thrombotic thrombocytopenic purpura
- OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary
- ORPHA:83471 Thymic aplasia
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- ORPHA:3327 Thyrocerebrorenal syndrome
- OMIM:274240 Thyrocerebroretinal syndrome
- ORPHA:97285 Thyroid lymphoma
- ORPHA:297 Tick-borne encephalitis
- OMIM:300622 Tn polyagglutination syndrome
- ORPHA:537 Toxic epidermal necrolysis
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- ORPHA:859 Transcobalamin deficiency
- OMIM:275350 Transcobalamin II deficiency
- OMIM:227050 Transient erythroblastopenia of childhood
- ORPHA:863 Trichinellosis
- OMIM:222470 Trichohepatoenteric syndrome 1
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- OMIM:300953 Trichothiodystrophy 5, nonphotosensitive
- OMIM:602079 Trimethylaminuria
- OMIM:618805 Triokinase and FMN cyclase deficiency syndrome
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:75565 Tropical endomyocardial fibrosis
- ORPHA:805 Tuberous sclerosis complex
- OMIM:174000 Tubulointerstitial kidney disease, autosomal dominant, 2
- OMIM:613092 Tubulointerstitial kidney disease, autosomal dominant, 4
- OMIM:617056 Tubulointerstitial kidney disease, autosomal dominant, 5
- ORPHA:91500 Tubulointerstitial nephritis and uveitis syndrome
- OMIM:607665 Tubulointerstitial nephritis with uveitis
- ORPHA:1063 Tufted angioma
- ORPHA:3392 Tularemia
- ORPHA:32960 Tumor necrosis factor receptor 1 associated periodic syndrome
- OMIM:619975 Tumor predisposition syndrome 2
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:99745 Typhoid
- OMIM:276700 Tyrosinemia, type I
Disease code
Disease name
- ORPHA:3405 Umbilical cord ulceration-intestinal atresia syndrome
- ORPHA:98827 Unclassified myelodysplastic syndrome
- OMIM:191500 Undritz anomaly
- ORPHA:268943 Unilateral polymicrogyria
- ORPHA:488 Urachal cyst
- ORPHA:3409 Urban-Rogers-Meyer syndrome
- OMIM:266120 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to
- ORPHA:39044 Uveal melanoma
Disease code
Disease name
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:277175 Vascular hyalinosis
- OMIM:606893 Vascular malformation, primary intraosseous
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- OMIM:192315 Vasculopathy, retinal, with cerebral leukodystrophy
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600195 Venous malformations, multiple cutaneous and mucosal
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:301054 VEXAS syndrome, somatic
- OMIM:242840 Vici syndrome
- ORPHA:1493 Vici syndrome
- ORPHA:97282 VIPoma
- OMIM:228100 Visceral steatosis, congenital
- OMIM:619472 VISS syndrome
- ORPHA:28 Vitamin B12-responsive methylmalonic acidemia
- ORPHA:27 Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-
- ORPHA:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0
- OMIM:277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
- OMIM:607473 Vitamin K-dependent clotting factors, combined deficiency of, 2
- OMIM:193220 Vitreoretinochoroidopathy
- OMIM:193235 Vitreoretinopathy, neovascular inflammatory
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
- ORPHA:903 Von Willebrand disease
- OMIM:193400 Von willebrand disease, type 1
- OMIM:613554 Von willebrand disease, type 2
- OMIM:277480 Von willebrand disease, type 3
- OMIM:314560 Von willebrand disease, X-linked form
Disease code
Disease name
- ORPHA:33226 Waldenström macroglobulinemia
- ORPHA:572798 WARS2-related combined oxidative phosphorylation defect
- ORPHA:69745 Warty dyskeratoma
- ORPHA:3344 Weismann-Netter syndrome
- ORPHA:901 Wells syndrome
- OMIM:277700 Werner syndrome
- OMIM:193670 Whim syndrome
- ORPHA:51636 WHIM syndrome
- OMIM:619407 WHIM syndrome 2
- ORPHA:3452 Whipple disease
- ORPHA:85446 Wild type ABeta2M amyloidosis
- 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
- ORPHA:3463 Wolfram syndrome
- OMIM:222300 Wolfram syndrome 1
- OMIM:604928 Wolfram syndrome 2
- OMIM:598500 Wolfram syndrome, mitochondrial form
- ORPHA:75233 Wolman disease
- OMIM:194320 Woronets trait
- ORPHA:2834 Wrinkly skin syndrome
- OMIM:194350 Wt limb-blood syndrome
- ORPHA:53719 Wyburn-Mason syndrome
Disease code
Disease name
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:75497 X-linked Ehlers-Danlos syndrome
- ORPHA:2571 X-linked immunoneurologic disorder
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:86788 X-linked severe congenital neutropenia
- ORPHA:75563 X-linked sideroblastic anemia
- ORPHA:2802 X-linked sideroblastic anemia and spinocerebellar ataxia
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
- AAGAB
- AASS
- ABCA1
- ABCB6
- ABCB7
- ABCC2
- ABCC8
- ABCC9
- ABCD3
- ABCD4
- ABCG8
- ABHD5
- ABL1
- ACAD8
- ACAD9
- ACAT1
- ACD
- ACP5
- ACSL4
- ACTA2
- ACTC1
- ACTN1
- ACTN2
- ACTN4
- ACVR1
- ACVRL1
- ADA
- ADA2
- ADAM17
- ADAMTS13
- ADAMTS2
- ADAMTS3
- ADAMTSL2
- ADAR
- ADH5
- ADK
- AEBP1
- AGA
- AGGF1
- AGK
- AGXT
- AHCY
- AICDA
- AIP
- AK1
- AK2
- AKR1D1
- AKT1
- ALAD
- ALAS2
- ALB
- ALDOA
- ALDOB
- ALG1
- ALG12
- ALG13
- ALG2
- ALG3
- ALG6
- ALG8
- ALPK1
- ALPL
- ALX4
- AMACR
- AMMECR1
- AMN
- ANAPC1
- ANGPTL6
- ANK1
- ANKRD1
- ANKRD11
- ANKRD26
- ANKRD55
- ANO6
- AP3B1
- AP3D1
- APC
- APC2
- APOB
- APOE
- APP
- APPL1
- ARF1
- ARFGEF2
- ARHGAP26
- ARHGAP31
- ARHGEF1
- ARL6IP6
- ARMC5
- ARPC1B
- ARVCF
- ASAH1
- ASXL1
- ATM
- ATOH7
- ATP11A
- ATP11C
- ATP6AP1
- ATP6AP2
- ATP6V0A2
- ATP6V1A
- ATP6V1B2
- ATP6V1E1
- ATP7A
- ATP7B
- ATP8B1
- ATPAF2
- ATR
- ATRX
Gene name
Gene name
- C1GALT1C1
- C1R
- C1S
- C2
- C2orf69
- C3
- C4A
- CA2
- CACNA1D
- CACNA1S
- CAD
- CALR
- CAMK2B
- CAP2
- CAPN3
- CAPN5
- CARD10
- CARD11
- CARD9
- CARMIL2
- CARS1
- CASK
- CASP10
- CASP8
- CASR
- CAT
- CAVIN1
- CBL
- CBLIF
- CBS
- CCBE1
- CCM2
- CCND1
- CCR1
- CD109
- CD19
- CD247
- CD27
- CD28
- CD36
- CD3D
- CD3E
- CD3G
- CD4
- CD40
- CD40LG
- CD46
- CD55
- CD59
- CD70
- CD79A
- CD79B
- CD81
- CD8A
- CDAN1
- CDC40
- CDC42
- CDC42BPB
- CDCA7
- CDH23
- CDIN1
- CDKN1A
- CDKN1B
- CDKN2A
- CDKN2B
- CDKN2C
- CDSN
- CEBPA
- CEBPE
- CEL
- CELA2A
- CEP57
- CFB
- CFH
- CFHR1
- CFHR3
- CFI
- CFTR
- CHD7
- CHEK2
- CHIC2
- CHST14
- CIITA
- CISD2
- CITED2
- CLCN2
- CLCN7
- CLCNKB
- CLDN1
- CLN3
- CLPB
- CLPX
- COA8
- COG1
- COG2
- COG4
- COG6
- COG8
- COL14A1
- COL17A1
- COL1A1
- COL1A2
- COL2A1
- COL3A1
- COL4A1
- COL4A2
- COL4A5
- COL5A1
- COL5A2
- COL7A1
- COMT
- COPA
- COQ2
- CORIN
- CORO1A
- COX10
- COX15
- COX16
- COX4I2
- CP
- CPA1
- CPOX
- CPT2
- CR2
- CREB3L1
- CREBBP
- CRIPT
- CRYAB
- CSF3R
- CSNK2A1
- CSRP3
- CST3
- CTC1
- CTCF
- CTLA4
- CTNNB1
- CTNNBL1
- CTPS1
- CTRC
- CUBN
- CXCR2
- CXCR4
- CYB561
- CYB5A
- CYB5R3
- CYBA
- CYBB
- CYBC1
- CYCS
- CYP11B1
- CYP11B2
- CYP26C1
- CYP2A6
- CYP2C9
- CYP4F22
- CYP7B1
- CYSLTR2
Gene name
Gene name
Gene name
- F10
- F11
- F12
- F13A1
- F13B
- F2
- F5
- F7
- FADD
- FAH
- FAM111A
- FAN1
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FARS2
- FARSA
- FARSB
- FAS
- FASLG
- FAT4
- FBN1
- FBXL4
- FBXW7
- FCGR2A
- FCGR2B
- FCGR2C
- FCGR3A
- FCGR3B
- FCHO1
- FDX2
- FECH
- FERMT1
- FERMT3
- FGA
- FGB
- FGF23
- FGFR2
- FGG
- FH
- FHL2
- FIBP
- FIG4
- FIP1L1
- FKBP10
- FKBP14
- FKTN
- FLI1
- FLNA
- FLNC
- FLT1
- FLT3
- FMO3
- FN1
- FNIP1
- FOCAD
- FOXE3
- FOXN1
- FOXP1
- FOXP3
- FOXRED1
- FTCD
- FUCA1
- FUT8
- FYB1
- FZD4
Gene name
Gene name
Gene name
- ICOS
- IDH1
- IDH2
- IFIH1
- IFNG
- IFNGR1
- IFT140
- IGH
- IGHG2
- IGHM
- IGKC
- IGLL1
- IKBKB
- IKBKG
- IKZF1
- IKZF3
- IKZF5
- IL10
- IL10RA
- IL12A
- IL12A-AS1
- IL12B
- IL12RB1
- IL17RA
- IL18BP
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL36RN
- IL37
- IL4R
- IL6R
- IL6ST
- IL7
- IL7R
- INS
- IPO8
- IRAK1
- IRAK4
- IREB2
- IRF2BP2
- IRF4
- IRF5
- IRF8
- IRX5
- ISCU
- ITCH
- ITGA2
- ITGA2B
- ITGB2
- ITGB3
- ITGB4
- ITK
- IVD
- IVNS1ABP
Gene name
Gene name
Gene name
- MAD2L2
- MADD
- MAGT1
- MALT1
- MAN2B1
- MAP1B
- MAP2K1
- MAP2K2
- MAPK1
- MARS1
- MAT2A
- MAX
- MBD4
- MCFD2
- MCM10
- MCM4
- MDH2
- MDM2
- MDM4
- MECOM
- MED12
- MEFV
- MEN1
- MET
- MFAP5
- MGAT2
- MICOS13
- MICU1
- MLH1
- MLH3
- MLLT10
- MLX
- MMAA
- MMAB
- MMACHC
- MMADHC
- MMEL1
- MMP1
- MMUT
- MOGS
- MPDU1
- MPI
- MPIG6B
- MPL
- MPLKIP
- MPO
- MRAS
- MRPS7
- MRTFA
- MS4A1
- MS4A2
- MSH2
- MSH6
- MSN
- MST1
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TF
- MT-TH
- MT-TL1
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TW
- MTAP
- MTFMT
- MTHFD1
- MTHFR
- MTOR
- MTR
- MTRR
- MTTP
- MTX2
- MUC1
- MUC5B
- MVK
- MYBPC3
- MYC
- MYD88
- MYH11
- MYH6
- MYH7
- MYH9
- MYLK
- MYORG
- MYPN
- MYRF
- MYSM1
Gene name
- NAA10
- NABP1
- NAGS
- NARS2
- NAXD
- NBAS
- NBEAL2
- NBN
- NCF2
- NCF4
- NCKAP1L
- NDE1
- NDP
- NDUFA10
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA9
- NDUFAF2
- NDUFAF3
- NDUFAF5
- NDUFAF6
- NDUFB7
- NDUFB8
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEDD4L
- NEU1
- NEUROD1
- NEXN
- NF2
- NFE2L2
- NFIA
- NFIX
- NFKB1
- NFKB2
- NFS1
- NGLY1
- NHEJ1
- NHLRC2
- NHP2
- NIPBL
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NOD2
- NOP10
- NOS3
- NOTCH1
- NOTCH3
- NPC1
- NPC2
- NPHP1
- NPHP4
- NPM1
- NPPA
- NR1H4
- NR3C1
- NRAS
- NSD1
- NSMCE2
- NSMCE3
- NSUN2
- NT5C3A
- NTHL1
- NTRK1
- NUMA1
- NUP214
- NUTM1
Gene name
- P2RY12
- P4HA2
- PACS2
- PALB2
- PANK2
- PARN
- PAX2
- PAX4
- PBX1
- PCCA
- PCCB
- PCNT
- PDCD10
- PDE11A
- PDE4D
- PDE8B
- PDGFB
- PDGFRA
- PDGFRB
- PDHA1
- PDX1
- PEPD
- PET100
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PFKM
- PGK1
- PGM1
- PGM3
- PHF21A
- PHGDH
- PHKA2
- PHKB
- PHKG2
- PI4KA
- PICALM
- PIEZO1
- PIGA
- PIGL
- PIGM
- PIGT
- PIK3CA
- PIK3CD
- PIK3CG
- PIK3R1
- PKHD1
- PKLR
- PLA2G4A
- PLA2G7
- PLAU
- PLCG2
- PLEC
- PLEKHM1
- PLG
- PLN
- PLOD1
- PLOD3
- PLVAP
- PML
- PMM2
- PMS1
- PMS2
- PNP
- PNPLA2
- PNPO
- POLE
- POLG
- POLRMT
- POMP
- POT1
- POU2AF1
- PPCS
- PPIL1
- PPOX
- PRDM16
- PRDM5
- PRDX1
- PRF1
- PRIM1
- PRKACA
- PRKACB
- PRKACG
- PRKAR1A
- PRKCD
- PRKCSH
- PRKDC
- PRKG1
- PRLR
- PROC
- PRORP
- PROS1
- PRPS1
- PRSS1
- PRSS2
- PRTN3
- PSAP
- PSEN1
- PSEN2
- PSMB4
- PSMB8
- PSMB9
- PSMC1
- PSMG2
- PSTPIP1
- PTEN
- PTF1A
- PTH1R
- PTPN11
- PTPN2
- PTPN22
- PTPRC
- PUF60
- PUS1
- PYCR1
Gene name
Gene name
- RAB27A
- RAC2
- RACGAP1
- RAD50
- RAD51
- RAD51C
- RAD54B
- RAD54L
- RAF1
- RAG1
- RAG2
- RANBP2
- RARA
- RASA1
- RASA2
- RASGRP1
- RASGRP2
- RB1
- RBCK1
- RBM10
- RBM20
- RBPJ
- RECQL4
- REL
- REN
- RET
- RFT1
- RFWD3
- RFX5
- RFXANK
- RFXAP
- RHAG
- RHBDF2
- RHCE
- RHD
- RHOH
- RIN2
- RINT1
- RIPK1
- RIT1
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF113A
- RNF168
- RNF43
- RNU4ATAC
- RNU7-1
- RPA1
- RPGRIP1L
- RPL11
- RPL13
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS14
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS7
- RPSA
- RRAS
- RRAS2
- RREB1
- RRM2B
- RS1
- RTEL1
- RUNX1
- RYR1
Gene name
- SAA1
- SALL4
- SAMD9
- SAMD9L
- SAMHD1
- SAR1B
- SARS2
- SASH3
- SBDS
- SC5D
- SCARB2
- SCN10A
- SCN11A
- SCN5A
- SCN9A
- SCO2
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23B
- SEC24C
- SEC61A1
- SEC63
- SEMA4A
- SEMA4D
- SERAC1
- SERPINA6
- SERPINC1
- SERPIND1
- SERPINE1
- SERPINF2
- SETBP1
- SETD2
- SETX
- SF3B1
- SFTPA2
- SFTPC
- SFXN4
- SGCD
- SGCG
- SGPL1
- SH2B3
- SH2D1A
- SH3GL1
- SH3KBP1
- SHOC2
- SHPK
- SIK3
- SIN3A
- SKIC2
- SKIC3
- SLC11A2
- SLC12A3
- SLC17A5
- SLC19A1
- SLC19A2
- SLC19A3
- SLC20A2
- SLC25A10
- SLC25A11
- SLC25A13
- SLC25A15
- SLC25A21
- SLC25A38
- SLC27A4
- SLC29A3
- SLC2A1
- SLC2A10
- SLC30A10
- SLC35A1
- SLC35C1
- SLC37A4
- SLC39A13
- SLC39A4
- SLC39A7
- SLC40A1
- SLC46A1
- SLC4A1
- SLC4A4
- SLC51A
- SLC5A2
- SLC5A6
- SLC7A7
- SLCO2A1
- SLFN14
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMARCAL1
- SMARCB1
- SMARCD2
- SMARCE1
- SMO
- SMPD1
- SNORD118
- SNX10
- SOCS1
- SON
- SOS1
- SOS2
- SP110
- SPARC
- SPATA5
- SPI1
- SPIB
- SPINK1
- SPINK5
- SPP1
- SPPL2A
- SPRED1
- SPRED2
- SPTA1
- SPTB
- SRC
- SRD5A3
- SREBF1
- SRP54
- SRP72
- SRSF2
- SSR4
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STEAP3
- STIM1
- STING1
- STK11
- STK4
- STN1
- STOX1
- STS
- STT3A
- STT3B
- STX11
- STXBP1
- STXBP2
- SUFU
- SURF1
- SYK
Gene name
- TACO1
- TAF1A
- TAFAZZIN
- TAL1
- TAL2
- TALDO1
- TAOK1
- TARS1
- TBC1D24
- TBCE
- TBK1
- TBL1XR1
- TBX1
- TBX2
- TBX21
- TBXA2R
- TBXAS1
- TCAP
- TCF3
- TCF4
- TCIRG1
- TCN2
- TDP2
- TEK
- TERC
- TERT
- TET2
- TF
- TFAM
- TFR2
- TFRC
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGFBR3
- THBD
- THPO
- THRA
- THSD1
- TICAM1
- TIMM8A
- TINF2
- TKFC
- TLL1
- TLR3
- TLR4
- TLR7
- TLR8
- TMEM127
- TMEM147
- TMEM165
- TMEM67
- TMPO
- TMPRSS6
- TMTC3
- TNFAIP3
- TNFRSF11A
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF1B
- TNFRSF4
- TNFSF11
- TNFSF12
- TNFSF15
- TNNC1
- TNNI3
- TNNT2
- TNPO3
- TNXB
- TOM1
- TONSL
- TOR1A
- TP53
- TP63
- TPI1
- TPM1
- TPMT
- TPP2
- TRAC
- TRAF3
- TRAF7
- TREM2
- TREX1
- TRIP13
- TRMT5
- TRMU
- TRNT1
- TSC1
- TSC2
- TSPAN12
- TSR2
- TTC7A
- TTI2
- TTN
- TTR
- TUBA8
- TUBB1
- TXNRD2
- TYK2
- TYMP
- TYMS
- TYROBP
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
