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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 dominant cerebellar ataxia type I
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Orphanet_94145 |
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Autosomal dominant cerebellar ataxia type III
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Orphanet_94148 |
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Autosomal dominant cerebellar ataxia type IV
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Orphanet_94149 |
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Spondyloepiphyseal dysplasia congenita
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Orphanet_94068 |
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D-glycerate kinase deficiency
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Orphanet_941 |
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Malonyl-CoA decarboxylase deficiency
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Orphanet_943 |
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Immune-mediated protracted diarrhea of infancy
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Orphanet_94075 |
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Osteopoikilosis-short stature-intellectual disability syndrome
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Orphanet_94063 |
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X-linked intellectual disability-dystonia-dysarthria syndrome
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Orphanet_94083 |
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Congenital spondyloepiphyseal dysplasia
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Orphanet_94068 |
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Severe immune-mediated enteropathy
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Orphanet_94075 |
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Isolated congenital humeroulnar fusion
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Orphanet_94056 |
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Familial renal hypouricemia
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Orphanet_94088 |
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Hereditary renal hypouricemia
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Orphanet_94088 |
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Cerebellar syndrome-pigmentary maculopathy syndrome
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Orphanet_94147 |
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