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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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Hemolytic anemia due to diphosphoglycerate mutase deficiency
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Orphanet_714 |
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Hemolytic anemia due to glucophosphate isomerase deficiency
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Orphanet_712 |
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Split hand-split foot-deafness syndrome
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Orphanet_71271 |
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Split hand-split foot-hearing loss syndrome
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Orphanet_71271 |
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Retinal cavernous hemangioma
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Orphanet_71213 |
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Rare pulmonary hypertension
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Orphanet_71198 |
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Diffuse peritoneal leiomyomatosis
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Orphanet_71274 |
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Disseminated peritoneal leiomyomatosis
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Orphanet_71274 |
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Retinal capillary malformation
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Orphanet_71213 |
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Rare central nervous system and retinal vascular disease
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Orphanet_71281 |
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Rare genetic neurological disorder
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Orphanet_71859 |
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Renal nutcracker syndrome
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Orphanet_71273 |
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Neuromyelitis optica spectrum disorder
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Orphanet_71211 |
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Rh deficiency syndrome
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Orphanet_71275 |
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Imploding antrum syndrome
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Orphanet_71276 |
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