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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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Retinal ciliopathy due to mutation in the RPGRIP gene
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Orphanet_156174 |
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Congenital muscular dystrophy due to LMNA mutation
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Orphanet_157973 |
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Congenital or early infantile CACH syndrome
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Orphanet_157713 |
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Retinal detachment-occipital encephalocele syndrome
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Orphanet_1571 |
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Rare genetic endocrine disease
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Orphanet_156638 |
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Localized dystrophic epidermolysis bullosa, acral form
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Orphanet_158673 |
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Localized dystrophic epidermolysis bullosa, nails only
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Orphanet_158676 |
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Lethal acantholytic erosive disorder
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Orphanet_158687 |
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Pinnae and external auditory canal anomaly
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Orphanet_156243 |
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Congenital hypertrichosis-acromegaloid facial features spectrum
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Orphanet_1517 |
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Congenital hypertrichosis-coarse facial features spectrum
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Orphanet_1517 |
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Cysts and fistulae of the face and oral cavity
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Orphanet_155835 |
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Adolescent benign focal crisis
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Orphanet_1544 |
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Ectodermal dysplasia-skin fragility syndrome
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Orphanet_158668 |
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Adult basal ganglia disease
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Orphanet_157846 |
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