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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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Immune complex mediated vasculitis
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Orphanet_156149 |
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Hereditary progressive mucinous histiocytosis
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Orphanet_158025 |
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LMNA-related congenital muscular dystrophy
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Orphanet_157973 |
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Localized DEB, nails only
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Orphanet_158676 |
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Infantile striatonigral necrosis
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Orphanet_1576 |
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Pantothenate kinase-associated neurodegeneration
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Orphanet_157850 |
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Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
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Orphanet_1555 |
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Congenital pseudoarthrosis of the limbs
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Orphanet_157808 |
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Isolated pseudoarthrosis of the limbs
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Orphanet_157808 |
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Pinnae fistula or cyst
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Orphanet_155838 |
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Currarino idiopathic osteoarthropathy
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Orphanet_1525 |
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Submucosal cleft palate
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Orphanet_155878 |
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Hepatic carnitine palmitoyl transferase 1 deficiency
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Orphanet_156 |
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Hepatic carnitine palmitoyl transferase I deficiency
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Orphanet_156 |
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Huntington disease phenocopy syndrome
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Orphanet_158266 |
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