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(Q3281403)
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English
hepatic veno-occlusive disease with immunodeficiency
No description defined
VODI
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
hepatic veno-occlusive disease
0 references
health specialty
gastroenterology
0 references
genetic association
SP110
2 references
stated in
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000135899/Orphanet_79124
based on heuristic
inferred from an Open Targets association score over 0.7
Identifiers
KEGG ID
H01264
0 references
Genetics Home Reference Conditions ID
hepatic-veno-occlusive-disease-with-immunodeficiency
0 references
ICD-10
K76.5
0 references
ICD-11 (foundation)
712514250
0 references
ICD-11 ID (MMS)
4A01.33
subject named as
Hepatic veno-occlusive disease - immunodeficiency
0 references
Mondo ID
MONDO_0009338
0 references
OMIM ID
235550
0 references
Orphanet ID
79124
0 references
UMLS CUI
C4510630
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-01707
0 references
Sitelinks
Wikipedia
(1 entry)
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frwiki
Maladie veino-occlusive hépatique avec immunodéficience
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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