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OMIM ID
175050
OMIM term:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Alternative terms:
JP/HHT SYNDROME
JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA
JPS/HHT
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION
(∗) Location:
18q21.2
(†) Associated OMIM genes:
SMAD4
(‡) Associated MGI genes:
Mouse
Zebrafish
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