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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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Isolated catatonia
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Orphanet_648919 |
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Episkopi blindness
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Orphanet_649 |
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Norrie disease
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Orphanet_649 |
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Norrie-Warburg disease
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Orphanet_649 |
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Non-syndromic CBA
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Orphanet_649010 |
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Bronchial malformation
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Orphanet_649014 |
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Ataxia-telangiectasia, variant 1
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Orphanet_647 |
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Heterozygous microdeletion 17p11.2p12
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Orphanet_640 |
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Autosomal dominant Charcot-Marie-Tooth disease type 2
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Orphanet_64746 |
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Chromodomain helicase DNA binding protein 8 overgrowth syndrome
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Orphanet_642675 |
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Autosomal recessive HIES due to ZNF341 deficiency
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Orphanet_641368 |
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Acrofacial dysostosis, Kennedy-Teebi type
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Orphanet_64542 |
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Lipomatous flat LDM
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Orphanet_645300 |
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Lipomatous non-saccular LDM
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Orphanet_645300 |
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Fibroneural flat LDM
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Orphanet_645310 |
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