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Metadata
ID	DOID:0112254
Name	hepatic venoocclusive disease with immunodeficiency
Definition	A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/, https://pubmed.ncbi.nlm.nih.gov/16648851/
Xrefs	GARD:10083 MESH:C537257 OMIM:235550 ORDO:79124
Subsets	DO_rare_slim
Synonyms	hepatic veno-occlusive disease-immunodeficiency syndrome [EXACT] VODI [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease