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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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AD OSMED
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Orphanet_166100 |
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Acrokeratosis paraneoplastica
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Orphanet_166113 |
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Bazex syndrome
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Orphanet_166113 |
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Isolated osteopoikilosis
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Orphanet_166119 |
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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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X-linked corneal dermoid
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Orphanet_1661 |
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Intellectual disability-hypotonia-facial dysmorphism syndrome
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Orphanet_166108 |
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Corneal dystrophy epithelial-short stature syndrome
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Orphanet_1661 |
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FASTKD2-related infantile mitochondrial encephalomyopathy
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Orphanet_166105 |
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Stickler syndrome, non-ocular type
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Orphanet_166100 |
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Acrokeratosis paraneoplastica of Bazex
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Orphanet_166113 |
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Autosomal dominant otospondylomegaepiphyseal dysplasia
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Orphanet_166100 |
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Guízar Vázquez-Luengas-Muñoz syndrome
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Orphanet_1661 |
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Stickler syndrome type 3
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Orphanet_166100 |
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