| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
hepatic veno-occlusive disease-immunodeficiency syndrome [EXACT] VODI [EXACT] |
| Parent Relationships |
is_a syndrome |