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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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Hyperphenylalaninemia with primapterinuria
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Orphanet_1578 |
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Isolated congenital pseudarthrosis of the limbs
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Orphanet_157808 |
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Hereditary hypophosphatemic rickets with hypercalciuria
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Orphanet_157215 |
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Infantile bilateral striatal necrosis
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Orphanet_1576 |
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Mesoaxial synostotic syndactyly with phalangeal reduction
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Orphanet_157801 |
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De Smet-Fabry-Fryns syndrome
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Orphanet_1570 |
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Retinal degeneration-nanophthalmos-glaucoma syndrome
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Orphanet_1574 |
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Hyperplastic polyposis syndrome
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Orphanet_157798 |
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Serrated polyposis syndrome
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Orphanet_157798 |
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Cold-induced sweating syndrome
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Orphanet_157820 |
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Spondylocheirodysplastic Ehlers-Danlos syndrome
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Orphanet_157965 |
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CID due to RAG 1/2 deficiency
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Orphanet_157949 |
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Hyperphenylalaninemia due to dehydratase deficiency
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Orphanet_1578 |
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Syndactyly, Malik-Percin type
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Orphanet_157801 |
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Combined immunodeficiency with granulomatosis
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Orphanet_157949 |
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