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hepatic venoocclusive disease with immunodeficiency
Summary
- Synonym
-
- VODI
- hepatic veno-occlusive disease-immunodeficiency syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112254
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
