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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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Progressive diffuse PPK
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Orphanet_495 |
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Congenital scrotal absence
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Orphanet_495879 |
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Aquagenic syringeal acrokeratoderma
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Orphanet_498359 |
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Congenital scrotal agenesis
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Orphanet_495879 |
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Biliary atresia and associated disorders
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Orphanet_498345 |
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PPK mutilans and deafness
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Orphanet_494 |
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PPK mutilans and hearing loss
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Orphanet_494 |
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Ectrodactyly with and without other manifestations
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Orphanet_498477 |
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Thiamine-responsive megaloblastic anemia syndrome
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Orphanet_49827 |
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Extracranial carotid artery aneurysm
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Orphanet_494424 |
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Syndromic biliary atresia
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Orphanet_498350 |
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Keratosis pilaris atrophicans
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Orphanet_498 |
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Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
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Orphanet_496689 |
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Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
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Orphanet_496686 |
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Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
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Orphanet_495274 |
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