has material basis in germline mutation in
SMAD4
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
https://github.com/monarch-initiative/mondo/issues/3685
https://github.com/monarch-initiative/mondo/issues/6743
juvenile polyposis with hereditary hemorrhagic telangiectasia
polyposis, generalised juvenile, with pulmonary arteriovenous malformation
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
MONDO:0008278
MESH:C563412
telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli
UMLS:C1832942
DOID:0111543
JPHT
OMIM:175050
jPS/Hht
polyposis, generalized juvenile, with pulmonary arteriovenous malformation
JP/Hht syndrome
intestinal polyposis syndrome
juvenile polyposis syndrome