BMPR2

bone morphogenetic protein receptor type 2
OMIM: 600799
PanelMode of inheritanceDetails
2 panels
R-numbers: R462
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600, pulmonary hypertension, primary, 1, MONDO:0024533, Pulmonary venoocclusive disease 1, OMIM:265450, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600, pulmonary venoocclusive disease 1, MONDO:0020713
R-numbers: R188
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Idiopathic pulmonary arterial hypertension, IPAH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension, Pulmonary venoocclusive disease 1, 265450, PVOD