Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Preferred term
Gardner Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Gardner's Syndrome
- Gardners Syndrome
- Gardner's Syndromes
- Syndrome, Gardner's
- Syndromes, Gardner's
Scope note
- A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
History note
- 1981
In other languages
-
Finnish
-
Gardner
-
Gardnerin syndrooma
-
syndroma Gardner
-
Swedish
URI
http://www.yso.fi/onto/mesh/D005736
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