|
OMIM:175050 - JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
DOID:0111543 - juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome |
MONDO:0008278 - juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
Human Disease Resources: OMIM
Xenbase Genes: smad4, smad4.2