has material basis in germline mutation in SMAD4 autosomal dominant disease juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome https://github.com/monarch-initiative/mondo/issues/3685 https://github.com/monarch-initiative/mondo/issues/6743 https://github.com/monarch-initiative/mondo/issues/9178 https://www.malacards.org/card/juvenile_polyposis_hereditary_hemorrhagic_telangiectasia_syndrome polyposis, generalised juvenile, with pulmonary arteriovenous malformation An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias. juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278 SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome MESH:C563412 MEDGEN:331400 GARD:0024614 UMLS:C1832942 DOID:0111543 JPHT OMIM:175050 intestinal polyposis syndrome juvenile polyposis syndrome