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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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Primary antibody deficiency
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Orphanet_1572 |
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Carnitine uptake deficiency
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Orphanet_158 |
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Carnitine-acylcarnitine translocase deficiency
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Orphanet_159 |
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Carnitine palmitoyltransferase deficiency type 2
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Orphanet_157 |
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Infantile striatonigral degeneration
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Orphanet_1576 |
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Pterin-4 alpha-carbinolamine dehydratase deficiency
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Orphanet_1578 |
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Telomeric 15q deletion syndrome
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Orphanet_1596 |
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Familial isolated dilated cardiomyopathy
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Orphanet_154 |
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Early-onset prion disease with prominent psychiatric features
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Orphanet_157941 |
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Combined immunodeficiency due to RAG 1/2 deficiency
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Orphanet_157949 |
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Retinal ciliopathy due to mutation in Bardet-Biedl gene
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Orphanet_156183 |
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Retinal ciliopathy due to mutation in RP1 gene
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Orphanet_156168 |
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Retinal ciliopathy due to mutation in Usher gene
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Orphanet_156177 |
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Retinal ciliopathy due to mutation in nephronophthisis gene
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Orphanet_156180 |
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Retinal ciliopathy due to mutation in the RPGR gene
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Orphanet_156171 |
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