Term Name: pulmonary venoocclusive disease 2
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.
Ontology: Human Disease [DOID:0081269]   ( DOID:0081269 )

Relationships
is a type of: autosomal recessive disease pulmonary venoocclusive disease