| Metadata | |
|---|---|
| ID | DOID:0081269 |
| Name | pulmonary venoocclusive disease 2 |
| 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/ |
| Xrefs | |
| Synonyms |
FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |