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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.
Epilepsy syndrome
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Orphanet_166463 |
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Wolcott-Rallison syndrome
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Orphanet_1667 |
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Acrokeratosis of Bazex
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Orphanet_166113 |
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Intellectual disability, Birk-Barel type
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Orphanet_166108 |
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Metaphyseal chondrodysplasia, Kaitila type
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Orphanet_166038 |
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Dentinogenesis imperfecta, Shields type 2
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Orphanet_166260 |
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Dentinogenesis imperfecta, Shields type 3
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Orphanet_166265 |
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Inflammatory and autoimmune disease with epilepsy
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Orphanet_166484 |
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Sporadic fetal brain disruption sequence
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Orphanet_1665 |
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X-linked corneal dermoid
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Orphanet_1661 |
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Lethal restrictive dermopathy
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Orphanet_1662 |
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Von Willebrand disease type 1
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Orphanet_166078 |
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Von Willebrand disease type 2
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Orphanet_166081 |
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Von Willebrand disease type 2A
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Orphanet_166084 |
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Von Willebrand disease type 2B
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Orphanet_166087 |
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