classic familial adenomatous polyposis
MONDO:0021055Mondo
Findings
No curated finding names classic familial adenomatous polyposis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.
Definition from the Mondo Disease Ontology (MONDO:0021055), read 2026-09-29. CC BY 4.0.
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adenomatous colonic polyposisHPOHP:0005227
- Very frequent (80% to 99% of cases)
- Colon cancerHPOHP:0003003
- Very frequent (80% to 99% of cases)
- Colorectal polyposisHPOHP:0200063
- Very frequent (80% to 99% of cases)
- Congenital hypertrophy of retinal pigment epitheliumHPOHP:0007649
- Very frequent (80% to 99% of cases)
- Gastrointestinal desmoid tumorHPOHP:0100245
- Very frequent (80% to 99% of cases)
- Neoplasm of the gastrointestinal tractHPOHP:0007378
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Duodenal polyposisHPOHP:0004783
- Frequent (30% to 79% of cases)
- Multiple gastric polypsHPOHP:0004394
- Frequent (30% to 79% of cases)
- OsteomaHPOHP:0100246
- Frequent (30% to 79% of cases)
Show the remaining 33
- Thyroid noduleHPOHP:0025388
- Frequent (30% to 79% of cases)
- Abnormal cementum morphologyHPOHP:0100717
- Occasional (5% to 29% of cases)
- Abnormality of the thyroid glandHPOHP:0000820
- Occasional (5% to 29% of cases)
- Adrenocortical adenomaHPOHP:0008256
- Occasional (5% to 29% of cases)
- AngiofibromasHPOHP:0010615
- Occasional (5% to 29% of cases)
- Duodenal adenocarcinomaHPOHP:0006771
- Occasional (5% to 29% of cases)
Where it sits
Other names
11 names
Resolves to: classic familial adenomatous polyposis
- Also called
- adenomatous polyposis coliclassic FAPcolorectal adenomatous polyposisFamilial Adenomatous Polyposisfamilial adenomatous polyposis colifamilial adenomatous polyposis syndromefamilial polyposisfamilial polyposis coliFAPhereditary adenomatous polyposis colipolyposis coli