loading...| Preferred Name |
Familial Adenomatous Polyposis |
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| Synonyms |
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| Definitions |
An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3339 |
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| ALT_DEFINITION |
An inherited condition in which numerous polyps (growths that protrude from mucous membranes) form on the inside walls of the colon and rectum. It increases the risk for colon cancer. |
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| code |
C3339 |
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| Contributing_Source |
Cellosaurus CCPS CTRP GDC |
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| definition |
An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea. |
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| Display_Name |
Familial Adenomatous Polyposis |
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| ICD-O-3_Code |
8220/0 |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C168658 http://purl.obolibrary.org/obo/NCIT_C168656 http://purl.obolibrary.org/obo/NCIT_C168657 http://purl.obolibrary.org/obo/NCIT_C168655 http://purl.obolibrary.org/obo/NCIT_C168662 http://purl.obolibrary.org/obo/NCIT_C168661 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C177281 http://purl.obolibrary.org/obo/NCIT_C165258 |
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| Is_Value_For_GDC_Property |
http://purl.obolibrary.org/obo/NCIT_C177621 http://purl.obolibrary.org/obo/NCIT_C17103 |
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| label |
Familial Adenomatous Polyposis |
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| Legacy Concept Name |
Familial_Adenomatous_Polyposis |
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| Maps_To |
Familial polyposis coli Familial Adenomatous Polyposis Adenomatous Polyposis Coli Adenomatous polyposis coli 8220/0 |
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| Preferred_Name |
Familial Adenomatous Polyposis |
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| prefixIRI |
NCIT:C3339 |
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| prefLabel |
Familial Adenomatous Polyposis |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0032580 |
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| subClassOf |