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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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Deficiency of malonyl-CoA decarboxylase
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Orphanet_943 |
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Cytophagic histiocytic panniculitis
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Orphanet_94087 |
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Winkelmann cytophagic panniculitis
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Orphanet_94087 |
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Ataxia with pigmentary retinopathy
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Orphanet_94147 |
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12q14 microdeletion syndrome
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Orphanet_94063 |
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Hearing loss-infertility syndrome
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Orphanet_94064 |
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15q24 microdeletion syndrome
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Orphanet_94065 |
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Blue diaper syndrome
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Orphanet_94086 |
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Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
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Orphanet_94086 |
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Neuroleptic malignant syndrome
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Orphanet_94093 |
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Cerebellar plus syndrome
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Orphanet_94145 |
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Pure cerebellar syndrome-mild pyramidal signs syndrome
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Orphanet_94148 |
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Isolated humero-ulnar synostosis
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Orphanet_94056 |
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Anonychia congenita totalis
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Orphanet_94150 |
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Spinocerebellar ataxia type 7
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Orphanet_94147 |
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