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Metadata
DOID DOID:0050424
Name familial adenomatous polyposis
Definition An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis, http://www.omim.org/entry/175100?search=adenomatous%20polyposis
Xrefs

DO:ls

GARD:6408

MESH:D011125

NCI:C3339

OMIM:175100

OMIM:608456

SNOMEDCT_US_2018_03_01:70921007

SNOMEDCT_US_2018_03_01:72900001

UMLS_CUI:C0032580

UMLS_CUI:C2713442

UMLS_CUI:C2713443

Subsets

NCIthesaurus

Synonyms

adenomatous polyposis of the colon [EXACT]

Relationships

is_a autosomal dominant disease

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