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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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X-linked agammaglobulinemia
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Orphanet_47 |
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Hyperdibasic aminoaciduria
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Orphanet_470 |
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Jeune syndrome
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Orphanet_474 |
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CPD IV
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Orphanet_475 |
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Joubert syndrome
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Orphanet_475 |
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Joubert-Boltshauser syndrome
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Orphanet_475 |
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BVES-related LGMD
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Orphanet_476084 |
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EKC syndrome
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Orphanet_476096 |
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Erythrokeratodermia-cardiomyopathy syndrome
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Orphanet_476096 |
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Axonal HMSN
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Orphanet_476109 |
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Demyelinating HMSN
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Orphanet_476116 |
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Felty syndrome
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Orphanet_47612 |
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Intermediate CMT
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Orphanet_476123 |
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PMP2-related CMT1
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Orphanet_476394 |
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KID syndrome
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Orphanet_477 |
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