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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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pulmo, Add Definition, Pulmonary arteriovenous malformation HP:0006548 #5624

Closed GrieseAG closed 4 years ago

GrieseAG commented 4 years ago

HPO term Pulmonary arteriovenous malformation HP:0006548

Suggested revision of textual definition Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.

PMID: 788535, PMID: 30386957

synonym: Pulmonary telangiectasia

additional associated diseases: Teleangiectasia, Hereditary hemorrhagic type 1 (OMIM:187300), type 5 (615506) additional associated genes: GDF2 (605120)

pnrobinson commented 4 years ago

added definition, and revised disease associations