FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pulmonary venoocclusive disease 2 ID (Ontology) DOID:0081269 (Human Disease)
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.
Also Known As "FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS"
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 pulmonary venoocclusive disease 2       1
 for disease ribbon | pulmonary venoocclusive disease 2       1
 model of | pulmonary venoocclusive disease 2       1
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autosomal genetic disease
 |__autosomal recessive disease______
pulmonary hypertension               |
 |__pulmonary venoocclusive disease__|
                                     pulmonary venoocclusive disease 2  1 rec.
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Is a autosomal recessive disease
pulmonary venoocclusive disease
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Synonyms
  • "FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS" EXACT
Secondary IDs
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MIM:234810