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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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Atrophoderma of Pasini and Pierini
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Orphanet_658810 |
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Follicular helper T-cell lymphoma, follicular type
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Orphanet_652650 |
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Leber congenital amaurosis
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Orphanet_65 |
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Benign focal amyotrophy
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Orphanet_65684 |
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Hereditary motor and sensory neuropathy type 1
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Orphanet_65753 |
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Non histamine-induced angioedema
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Orphanet_658 |
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Isolated pulmonary artery sling
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Orphanet_658574 |
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Juvenile muscular atrophy of distal upper extremity
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Orphanet_65684 |
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Juvenile muscular atrophy of the distal upper limb
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Orphanet_65684 |
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Eyelid sebaceous carcinoma
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Orphanet_658590 |
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Pancreatic and cerebellar agenesis
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Orphanet_65288 |
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Isolated focal cortical dysplasia
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Orphanet_65683 |
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Lecithin-cholesterol acyltransferase deficiency
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Orphanet_650 |
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Beta-alanine synthase deficiency
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Orphanet_65287 |
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3q subtelomere deletion syndrome
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Orphanet_65286 |
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