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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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BCKDH deficiency
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Orphanet_511 |
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Branched-chain ketoaciduria
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Orphanet_511 |
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Ethylmalonic encephalopathy
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Orphanet_51188 |
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Metachromatic leukodystrophy
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Orphanet_512 |
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FTCD deficiency
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Orphanet_51208 |
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Formiminoglutamic aciduria
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Orphanet_51208 |
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Skraban-Deardorff syndrome
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Orphanet_513456 |
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AML M5
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Orphanet_514 |
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Serpentine-like syndrome
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Orphanet_514352 |
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ATP13A2-related parkinsonism
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Orphanet_514980 |
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Cobblestone lissencephaly
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Orphanet_51577 |
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Infantile arteriosclerosis
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Orphanet_51608 |
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WHIM syndrome
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Orphanet_51636 |
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Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
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Orphanet_51636 |
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Warts-infections-leukopenia-myelokatexis syndrome
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Orphanet_51636 |
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