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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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Fibular aplasia-complex brachydactyly syndrome
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Orphanet_2639 |
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Chondrodysplasia with congenital joint dislocations, CHST3 type
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Orphanet_263463 |
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Acquired prothrombin deficiency
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Orphanet_26348 |
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Glycogen storage disease type 15
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Orphanet_263297 |
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Glycogen storage disease type XV
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Orphanet_263297 |
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Congenital hyperinsulinism due to HNF4A deficiency
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Orphanet_263455 |
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Hyperinsulinemic hypoglycemia due to HNF4A deficiency
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Orphanet_263455 |
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Hyperinsulinemic hypoglycemia due to INSR deficiency
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Orphanet_263458 |
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Langer mesomelic dysplasia
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Orphanet_2632 |
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Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
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Orphanet_263458 |
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Primordial microcephalic dwarfism, Crachami type
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Orphanet_2636 |
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Reinhardt-Pfeiffer mesomelic dysplasia
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Orphanet_2634 |
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CHST3-related skeletal dysplasia
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Orphanet_263463 |
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Limb-girdle muscular dystrophy
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Orphanet_263 |
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Acute necrotizing encephalopathy of childhood
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Orphanet_263524 |
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