OBO ID: DOID:0112254
Term Name: hepatic venoocclusive disease with immunodeficiency Search Ontology:
Synonyms:
  • hepatic veno-occlusive disease-immunodeficiency syndrome
  • VODI
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 SP110 on chromosome 2q37.1. (2)
References:
Ontology: Human Disease   (DOID:0112254)
OTHER hepatic venoocclusive disease with immunodeficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SP110 Hepatic venoocclusive disease with immunodeficiency 235550
SP140 Hepatic venoocclusive disease with immunodeficiency 235550
SP140L Hepatic venoocclusive disease with immunodeficiency 235550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None