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Results: 4

1.

Attenuated FAP

A rare genetic syndrome with an autosomal dominant pattern of inheritance. It was formerly called hereditary flat adenoma syndrome (HFAS) but is now recognized as an attenuated variant of familial adenomatous polyposis (FAP). It is most commonly associated with mutations in the APC gene specifically: exons 1-5, exon 9 and in the distal 3' terminus. Clinical presentation occurs in the middle decades and is characterized by the proximal development of multiple (but less than 100), non-polypoid colonic adenomas. Clinical progression to colorectal cancer may occur later in life but the risk is less than with classic FAP. [from NCI]

MedGen UID:
436213
Concept ID:
C2674616
Disease or Syndrome
2.

Brain tumor-polyposis syndrome 2

MedGen UID:
435873
Concept ID:
C2673218
Disease or Syndrome
3.

Adenomatous polyposis coli, attenuated

MedGen UID:
358117
Concept ID:
C1868019
Disease or Syndrome
4.

Gardner syndrome

A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene. [from NCI]

MedGen UID:
6547
Concept ID:
C0017097
Disease or Syndrome

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