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hepatic veno-occlusive disease-immunodeficiency syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
Uniprot Description Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells.
Mondo Term and Equivalent IDs
MONDO:0009338:  hepatic veno-occlusive disease-immunodeficiency syndrome
GARD:0010083: 
MESH:C537257: 
Orphanet:79124: 
SCTID:724361001: 
UMLS:C1856128: