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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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Non-specific autoimmune CA with characteristic antibodies
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Orphanet_624259 |
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Non-specific autoimmune CA without characteristic antibodies
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Orphanet_624268 |
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PBX1-related syndromic CAKUT
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Orphanet_656130 |
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Primary Autoimmune Cerebellar Ataxia
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Orphanet_624268 |
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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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HNRNPH2-Related Neurodevelopmental Disorder
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Orphanet_662198 |
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Deficiency in ELF4, X-linked
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Orphanet_676125 |
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Multiple keratoacanthoma, Ferguson-Smith type
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Orphanet_65748 |
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Congenital isolated GH deficiency
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Orphanet_631 |
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Autosomal recessive HIES due to ZNF341 deficiency
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Orphanet_641368 |
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Early-onset severe Hermansky-Pudlak syndrome with deafness
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Orphanet_664511 |
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KWWH type II
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Orphanet_65282 |
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Tyrosinemia type III
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Orphanet_69723 |
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Mucopolysaccharidosis type IX
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Orphanet_67041 |
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