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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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Yuan-Harel-Lupski syndrome
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Orphanet_477817 |
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COL4A1 or COL4A2-related cerebral angiopathy
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Orphanet_477759 |
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COL4A1 or COL4A2-related cerebral small vessel disease
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Orphanet_477759 |
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IL21-related infantile IBD
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Orphanet_477661 |
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Ichthyosis hystrix Rheydt type
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Orphanet_477 |
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Type 1 condylar hyperplasia
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Orphanet_477781 |
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Other genetic dermis disorder
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Orphanet_477808 |
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PLA2G4A-related platelet dysfunction
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Orphanet_477787 |
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PMP22-RAI1 contiguous gene duplication syndrome
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Orphanet_477817 |
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Primary condylar hyperplasia
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Orphanet_477781 |
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IL21-related infantile inflammatory bowel disease
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Orphanet_477661 |
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Type 1 interferonopathy
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Orphanet_477647 |
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Genetic cardiac malformation
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Orphanet_477805 |
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Combined oxidative phosphorylation defect type 26
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Orphanet_477684 |
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Combined oxidative phosphorylation defect type 27
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Orphanet_477774 |
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