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Human Disease

pulmonary venoocclusive disease 2

Term ID
DOID:0081269
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 )
Relationships
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Genes Involved
Zebrafish Models