OBO ID: DOID:0081269
Term Name: pulmonary venoocclusive disease 2 Search Ontology:
Synonyms:
  • FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS
Definition: A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. https://pubmed.ncbi.nlm.nih.gov/24292273/
References:
Ontology: Human Disease   ( DOID:0081269 )
OTHER pulmonary venoocclusive disease 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EIF2AK4 Pulmonary venoocclusive disease 2 234810
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None