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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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Childhood absence epilepsy
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Orphanet_64280 |
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CANT1-related multiple epiphyseal dysplasia
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Orphanet_647676 |
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Premature ovarian failure associated with fragile X premutation
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Orphanet_642691 |
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Charcot-Marie-Tooth disease-pyramidal features syndrome
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Orphanet_64751 |
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Isolated transitional filum lipoma
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Orphanet_645322 |
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Keratitis fugax hereditaria
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Orphanet_647815 |
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Keratoendotheliitis fugax hereditaria
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Orphanet_647815 |
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Atrophia bulborum hereditaria
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Orphanet_649 |
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Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
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Orphanet_641368 |
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Dysplastic cortical hyperostosis
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Orphanet_646139 |
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Dysplastic cortical hyperostosis, Al-Gazali type
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Orphanet_646136 |
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Immunotherapy induced hypophysitis
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Orphanet_641350 |
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Bartonella bacilliformis infection
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Orphanet_64692 |
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Neonatal focal intestinal perforation
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Orphanet_645793 |
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Congenital Volkmann ischemic contracture syndrome
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Orphanet_641829 |
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