telangiectasia, hereditary hemorrhagic, type 5
Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.
MONDO:0019180
hereditary hemorrhagic telangiectasia
is_a
GDF2 hereditary hemorrhagic telangiectasia
exact
GDF2 related HHT-like syndrome
exact
HHT5
related
hereditary hemorrhagic telangiectasia caused by mutation in GDF2
exact
telangiectasia, hereditary hemorrhagic, type 5
exact