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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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ARX-related epileptic encephalopathy
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Orphanet_182079 |
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Tumor of endocrine glands
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Orphanet_182130 |
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Channelopathy with epilepsy
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Orphanet_182083 |
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Dysplasia epiphysealis hemimelica
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Orphanet_1822 |
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Rare constitutional hemolytic anemia
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Orphanet_182043 |
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Rare acquired hemolytic anemia
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Orphanet_182047 |
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Pulmonary arterial hypertension
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Orphanet_182090 |
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Primary orthostatic hypotension
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Orphanet_182058 |
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Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
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Orphanet_1825 |
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Acquired peripheral neuropathy
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Orphanet_182086 |
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Rare neuroinflammatory or neuroimmunological disease
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Orphanet_182064 |
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Idiopathic eosinophilic pneumonia
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Orphanet_182101 |
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Epiphyseal dysplasia-microcephaly-nystagmus syndrome
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Orphanet_1824 |
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Epiphyseal dysplasia-deafness-dysmorphism syndrome
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Orphanet_1825 |
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MYH9-related syndromic thrombocytopenia
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Orphanet_182050 |
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