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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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Von Willebrand disease type 2M
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Orphanet_166090 |
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Von Willebrand disease type 2N
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Orphanet_166093 |
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Von Willebrand disease type 3
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Orphanet_166096 |
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Rare coagulopathy due to an acquired coagulation factor defect
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Orphanet_166775 |
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Intellectual disability-hypotonia-facial dysmorphism syndrome
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Orphanet_166108 |
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Multiple epiphyseal dysplasia due to collagen 9 anomaly
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Orphanet_166002 |
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Multiple epiphyseal dysplasia with Robin phenotype
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Orphanet_166016 |
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Multiple epiphyseal dysplasia, Al-Gazali type
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Orphanet_166024 |
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Multiple epiphyseal dysplasia, Lowry type
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Orphanet_166016 |
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Multiple epiphyseal dysplasia-miniepiphyses syndrome
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Orphanet_166032 |
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Eating reflex epilepsy
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Orphanet_166418 |
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Benign partial epilepsy of infancy with complex partial seizures
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Orphanet_166299 |
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Corneal dystrophy epithelial-short stature syndrome
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Orphanet_1661 |
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Benign non-familial infantile seizures
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Orphanet_166295 |
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Benign partial infantile seizures
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Orphanet_166311 |
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