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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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Hirschsprung disease
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Orphanet_388 |
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Dihydropyrimidinase deficiency
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Orphanet_38874 |
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Histiocytosis X
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Orphanet_389 |
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Acrokeratoelastoidosis of Costa
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Orphanet_38 |
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Congenital intestinal aganglionosis
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Orphanet_388 |
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Neurodegeneration with brain iron accumulation
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Orphanet_385 |
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Von Meyenburg complexes disease
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Orphanet_386 |
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Guanidinoacetate methyltransferase deficiency
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Orphanet_382 |
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Langerhans cell granulomatosis
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Orphanet_389 |
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Hepatic cystic hamartoma
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Orphanet_386 |
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Langerhans cell histiocytosis
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Orphanet_389 |
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Punctate palmoplantar hyperkeratosis type 3
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Orphanet_38 |
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Punctate palmoplantar keratoderma type 3
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Orphanet_38 |
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Mesenchymal hamartoma of liver
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Orphanet_386 |
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Greig cephalopolysyndactyly syndrome
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Orphanet_380 |
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