|OBO ID: DOID:0112254|
|Term Name:||hepatic venoocclusive disease with immunodeficiency||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0112254)|
|is a type of:||
OTHER hepatic venoocclusive disease with immunodeficiency PAGES
|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
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