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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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Monosomy 8q24.3
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Orphanet_508488 |
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Verheij syndrome
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Orphanet_508488 |
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MYSM1 deficiency
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Orphanet_508542 |
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Kikuchi disease
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Orphanet_50918 |
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Kikuchi-Fujimoto disease
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Orphanet_50918 |
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Erythrokeratolysis hiemalis
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Orphanet_50943 |
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Oudtshoorn disease
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Orphanet_50943 |
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Schöpf-Schulz-Passarge syndrome
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Orphanet_50944 |
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Blomstrand chondrodysplasia
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Orphanet_50945 |
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Blomstrand osteochondrodysplasia
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Orphanet_50945 |
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Aicardi-Goutières syndrome
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Orphanet_51 |
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Lesch-Nyhan syndrome
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Orphanet_510 |
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BCKD deficiency
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Orphanet_511 |
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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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