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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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Non-syndromic multisutural craniosynostosis
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Orphanet_620152 |
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Isolated bilambdoid craniosynostosis
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Orphanet_620178 |
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Non-syndromic bilambdoid craniosynostosis
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Orphanet_620178 |
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ERF-related syndromic craniosynostosis
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Orphanet_647681 |
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TCF12-related syndromic craniosynostosis
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Orphanet_672979 |
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ZIC1-related syndromic craniosynostosis
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Orphanet_672985 |
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Episodic memory defect leukoencephalopathy
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Orphanet_662229 |
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Hippocampal memory defect leukoencephalopathy
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Orphanet_662229 |
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3-methylcrotonyl-CoA carboxylase deficiency
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Orphanet_6 |
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Alpha-1-proteinase inhibitor deficiency
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Orphanet_60 |
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Lysosomal alpha-D-mannosidase deficiency
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Orphanet_61 |
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Acid sphingomyelinase deficiency
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Orphanet_618899 |
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GH receptor deficiency
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Orphanet_633 |
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Phosphoribosylaminoimidazole carboxylase deficiency
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Orphanet_633099 |
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Lecithin-cholesterol acyltransferase deficiency
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Orphanet_650 |
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