loading...| Preferred Name |
Cowden Syndrome |
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| Synonyms |
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| Definitions |
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3076 |
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| ALT_DEFINITION |
An inherited disorder marked by the formation of many noncancerous growths called hamartomas. These growths occur in the skin, breast, thyroid, colon, intestines, and inside of the mouth. Patients with Cowden syndrome are at increased risk of certain types of cancer, including breast and thyroid. |
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| code |
C3076 |
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| Contributing_Source |
Cellosaurus CCPS CTRP GDC |
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| definition |
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. |
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| Display_Name |
Cowden Syndrome |
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| in_subset |
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 | ||
| label |
Cowden Syndrome |
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| Legacy Concept Name |
Cowden_Syndrome |
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| Maps_To |
Cowden Syndrome |
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| Preferred_Name |
Cowden Syndrome |
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| prefixIRI |
NCIT:C3076 |
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| prefLabel |
Cowden Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0018553 |
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| subClassOf |