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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Autosomal recessive Segawa syndrome
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Orphanet_101150 |
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Chronic primary adrenal insufficiency
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Orphanet_101959 |
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Immunodeficiency predominantly affecting antibody production
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Orphanet_101977 |
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Combined T and B cell immunodeficiency
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Orphanet_101972 |
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Rare hepatic and biliary tract tumor
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Orphanet_101943 |
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Rare bronchopulmonary and pleural cavity tumors
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Orphanet_101945 |
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Dentatorubral pallidoluysian atrophy
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Orphanet_101 |
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Autosomal recessive axonal CMT4C2
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Orphanet_101102 |
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Autosomal recessive axonal CMT4C3
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Orphanet_101101 |
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Autosomal recessive axonal CMT4C4
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Orphanet_101097 |
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Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
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Orphanet_101101 |
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Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
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Orphanet_101097 |
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Familial isolated congenital asplenia
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Orphanet_101351 |
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Congenital stromal corneal dystrophy
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Orphanet_101068 |
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Activation-induced cytidine deaminase deficiency
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Orphanet_101089 |
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