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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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ACPS2
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Orphanet_65759 |
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CMT1
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Orphanet_65753 |
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MSSE
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Orphanet_65748 |
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PHHI
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Orphanet_657 |
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Ferguson-Smith disease
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Orphanet_65748 |
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Carpenter syndrome
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Orphanet_65759 |
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Acrocephalopolysyndactyly type 2
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Orphanet_65759 |
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Multiple keratoacanthoma, Ferguson-Smith type
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Orphanet_65748 |
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Hereditary motor and sensory neuropathy type 1
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Orphanet_65753 |
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Autosomal dominant demyelinating Charcot-Marie-Tooth disease
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Orphanet_65753 |
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Self-healing squamous epithelioma type 1
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Orphanet_65748 |
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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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Autosomal dominant multiple pterygium syndrome
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Orphanet_65743 |
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Multiple self-healing squamous epithelioma
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Orphanet_65748 |
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