" /> Pulmonary venoocclusive disease 2, autosomal recessive - CISMeF





Preferred Label : Pulmonary venoocclusive disease 2, autosomal recessive;

Symbol : PVOD2;

CISMeF acronym : PVOD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemangiomatosis, familial pulmonary capillary;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 4 gene (EIF2AK4, 609280.0001);

Prefixed ID : #234810;

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29/07/2025


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