telangiectasia, hereditary hemorrhagic, type 2
Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
MONDO:0019180
hereditary hemorrhagic telangiectasia
is_a
ACVRL1 hereditary hemorrhagic telangiectasia
exact
HHT2
related
ORW2
related
Osler Weber Rendu syndrome type 2
related
hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1
exact
hereditary hemorrhagic telangiectasia type 2
related
telangiectasia hereditary hemorrhagic type 2
related
telangiectasia, hereditary hemorrhagic, type 2
exact