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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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Cone rod dystrophy-short stature syndrome
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Orphanet_653709 |
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Intellectual disability-cupped ears syndrome
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Orphanet_656135 |
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Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
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Orphanet_653880 |
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Self-healing squamous epithelioma type 1
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Orphanet_65748 |
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Idiopathic small fibers neuropathy
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Orphanet_658549 |
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Biotin-responsive basal ganglia disease
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Orphanet_65284 |
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Biotin-thiamine-responsive basal ganglia disease
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Orphanet_65284 |
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Greig cephalopolysyndactyly-contiguous gene syndrome
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Orphanet_658805 |
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Nodal T-follicular helper cell lymphoma, follicular type
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Orphanet_652650 |
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COQ7-related distal hereditary motor neuropathy
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Orphanet_658778 |
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Congenital isolated hyperinsulinism
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Orphanet_657 |
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Persistent hyperinsulinemic hypoglycemia of infancy
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Orphanet_657 |
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X-linked combined immunodeficiency due to SASH3 deficiency
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Orphanet_653751 |
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Primary CPP in boy
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Orphanet_650087 |
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Secondary CPP in boy
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Orphanet_650092 |
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