Diseases

Name Orphanumber Description XREF(s)
Sudden cardiac failure, infantile OMIM
Hereditary Alpha Tryptasemia NIH (National Institute of Allergy and …, PubMed
DERMATITIS, ATOPIC OMIM
Ataxia-telangiectasia 100 A rare disorder characterized by the… Orphanet, MeSH, MedDRA, ICD-10, OMIM, OMIM
Ocular albinism with late-onset sensorineural deafness 1000 Ocular albinism with late-onset… Orphanet, OMIM, MeSH, ICD-10
ABeta amyloidosis, Dutch type 100006 A form of hereditary cerebral… Orphanet, MeSH, MeSH, ICD-10, ICD-10, OMIM
ACys amyloidosis 100008 A form of hereditary cerebral… Orphanet, ICD-10, ICD-10, OMIM
Refractory anemia with excess blasts type 1 100019 A severe type of RAEB characterized by… Orphanet, ICD-10
Refractory anemia with excess blasts type 2 100020 A very severe type of RAEB… Orphanet, ICD-10
Hypoplastic amelogenesis imperfecta 100031 Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Hypocalcified amelogenesis imperfecta 100032 Orphanet, ICD-10, OMIM, OMIM, OMIM
Hypomaturation amelogenesis imperfecta 100033 Orphanet, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, MeSH, OMIM
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 100034 Orphanet, ICD-10, OMIM
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 100044 A rare hereditary motor and sensory… Orphanet, OMIM, ICD-10
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 100045 A rare hereditary motor and sensory… Orphanet, OMIM, ICD-10
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 100046 A rare hereditary motor and sensory… Orphanet, OMIM, ICD-10
Hereditary angioedema type 1 100050 A form of hereditary angioedema… Orphanet, MeSH, OMIM, ICD-10
Hereditary angioedema type 2 100051 Hereditary angioedema type 2 (HAE 2) is… Orphanet, ICD-10, OMIM
F12-related hereditary angioedema with normal C1Inh 100054 Hereditary angioedema type 3 (HAE 3) is… Orphanet, MeSH, OMIM, ICD-10
Renin-angiotensin-aldosterone system-blocker-induced angioedema 100057 Renin-angiotensin-aldosterone system (… Orphanet, OMIM, ICD-10
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