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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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Mixed phenotype acute leukemia with t(v;11q23.3)
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Orphanet_589595 |
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Lethal brain and heart developmental defects
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Orphanet_580933 |
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Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
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Orphanet_589542 |
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Inherited gynecological cancer-predisposing syndrome
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Orphanet_589746 |
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Classic hairy cell leukemia
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Orphanet_58017 |
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Punctate inner choroidopathy
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Orphanet_580951 |
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Iduronate 2-sulfatase deficiency
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Orphanet_580 |
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Arylsulfatase B deficiency
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Orphanet_583 |
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N-acetylgalactosamine 4-sulfatase deficiency
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Orphanet_583 |
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Multiple sulfatase deficiency
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Orphanet_585 |
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Phosphoserine aminotransferase deficiency, prenatal form
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Orphanet_583602 |
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3-phosphoglycerate dehydrogenase deficiency, prenatal form
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Orphanet_583607 |
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3-phosphoserine phosphatase deficiency, prenatal form
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Orphanet_583612 |
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PUM1-associated developmental disability-ataxia-seizure syndrome
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Orphanet_589515 |
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QRICH1-related intellectual disability-chondrodysplasia syndrome
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Orphanet_580940 |
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