Hepatic venoocclusive disease with immunodeficiency

Preferred Label : Hepatic venoocclusive disease with immunodeficiency;

Symbol : VODI;

CISMeF acronym : VODI;

Type : Phenotype, molecular basis known;

Description : Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis.;

Inheritance : Autosomal recessive;

Prefixed ID : #235550;

Détails

Origin ID

235550;

UMLS CUI

C1856128;

Currated CISMeF NLP mapping
- Hepatic veno-occlusive disease - immunodeficiency syndrome [ICD-11 Sub-sub category]
- Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) [SNOMED CT concept]
- Hepatic veno-occlusive disease-immunodeficiency syndrome [ORDO Disease]
- Hepatic venoocclusive disease with immunodeficiency [MeSH concept]
- hepatic venoocclusive disease with immunodeficiency [DO Concept]
- hepatic venoocclusive disease with immunodeficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Nuclear body protein sp110 [OMIM gene]
HPO term(s)
- Abnormality of the liver [HPO term]
- Absence of lymph node germinal center [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgG level [HPO term]
- Endocardial fibrosis [HPO term]
- Immunodeficiency [HPO term]
- Microcephaly [HPO term]
ORDO concept(s)
- Hepatic veno-occlusive disease-immunodeficiency syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hepatic veno-occlusive disease - immunodeficiency syndrome [ICD-11 Sub-sub category]
- Hepatic veno-occlusive disease-immunodeficiency syndrome [ORDO Disease]
- Hepatic venoocclusive disease with immunodeficiency [MeSH concept]
- hepatic venoocclusive disease with immunodeficiency [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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