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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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D-glyceric aciduria
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Orphanet_941 |
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Cayman ataxia
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Orphanet_94122 |
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MLYCD deficiency
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Orphanet_943 |
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Malonic acidemia
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Orphanet_943 |
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Malonic aciduria
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Orphanet_943 |
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Primary acalvaria
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Orphanet_945 |
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Acrocraniofacial dysostosis
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Orphanet_949 |
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Kaplan-Plauchu-Fitch syndrome
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Orphanet_949 |
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Pseudohypoparathyroidism type 1B
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Orphanet_94089 |
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Pseudohypoparathyroidism type 2
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Orphanet_94090 |
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Cerebellar ataxia, Cayman type
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Orphanet_94122 |
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Recessive mitochondrial ataxia syndrome
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Orphanet_94125 |
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Autosomal dominant cerebellar ataxia type 1
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Orphanet_94145 |
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Autosomal dominant cerebellar ataxia type 3
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Orphanet_94148 |
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Autosomal dominant cerebellar ataxia type 4
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Orphanet_94149 |
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