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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:4505
Name:Gardner Syndrome
Definition: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.
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D011125
TreeNumbers:C04.557.470.035.215.100.500 |C04.588.274.476.411.307.089.393 |C04.588.274.476.411.307.180.089.500 |C04.700.100.392 |C06.301.371.411.307.180.089.500 |C06.405.249.411.307.180.089.500 |C06.405.469.158.356.180.089.500 |C06.405.469.491.307.180.089.500 |C06.405.469.57
Synonyms:Gardner's Syndrome |Gardners Syndrome |Gardner's Syndromes |Gardner Syndromes |Syndrome, Gardner |Syndrome, Gardner's |Syndromes, Gardner |Syndromes, Gardner's
Slim Mappings:Cancer|Congenital abnormality|Digestive system disease|Genetic disease (inborn)
Reference: MedGen: D005736
MeSH: D005736
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants