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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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Intracranial yolk sac tumor
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Orphanet_252006 |
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Double heterozygotes sickling disorder
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Orphanet_251355 |
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Epidermolysis bullosa simplex with muscular dystrophy
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Orphanet_257 |
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Intracranial endodermal sinus tumor
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Orphanet_252006 |
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Microcornea-glaucoma-absent frontal sinuses syndrome
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Orphanet_2536 |
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Congenital circumferential skin folds
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Orphanet_2505 |
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Autosomal dominant spastic ataxia type 1
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Orphanet_251282 |
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Autosomal recessive spastic ataxia type 4
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Orphanet_254343 |
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Ataxia neuropathy spectrum
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Orphanet_254818 |
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Lichen planus subtropicus
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Orphanet_254395 |
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ACC-abnormal genitalia syndrome
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Orphanet_2508 |
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1q21.1 microdeletion syndrome
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Orphanet_250989 |
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1q21.1 microduplication syndrome
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Orphanet_250994 |
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1q41q42 microdeletion syndrome
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Orphanet_250999 |
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Warburg micro syndrome
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Orphanet_2510 |
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