Endometrial cancer

Preferred Label : Endometrial cancer;

Type : Phenotype, molecular basis known;

Inheritance : Somatic mutation; Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the DNA mismatch repair protein MLH3 gene (MLH3, 604395.0006); Caused by somatic mutation in the cadherin 1 gene (CDH1, 192090.0001); Caused by somatic mutation in the mutS homolog 6 gene (MSH6, 600678.0005); Caused by somatic mutation in the mutS homolog 3 gene (MSH3, 600887.0001);

Neoplasia : Endometrial cancer;

Prefixed ID : #608089;

Details

Origin ID

608089;

UMLS CUI

C0476089;

Automatic exact mappings (from CISMeF team)
- Endometrial Cancer Pathway [NCIt concept]
- endometrial neoplasms [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cancer of endometrium [MedDRA LLT]
- Endometrial Carcinoma [NCIt concept]
- Endometrial cancer [MedDRA Preferred Term]
- Endometrial cancer NOS [MedDRA LLT]
- Endometrial carcinoma [MedDRA LLT]
- Endometrium cancer [PASCAL descriptor]
- Malignant neoplasms of corpus uteri [ICD-11 Category]
- Primary malignant neoplasm of endometrium (disorder) [SNOMED CT concept]
- Uterine Corpus Cancer [NCIt concept]
- endometrial cancer [DO Concept]
- endometrial cancer [Radlex concept]
- endometrial carcinoma [MeSH concept]
- endometrium cancer [Disease (Nov.)]
- uterine cancer [MedlinePlus Topic]
DO Cross reference
- endometrial cancer [DO Concept]
Genes related to phenotype
- Cadherin 1 [OMIM gene]
- Dna mismatch repair protein mlh3 [OMIM gene]
- Muts homolog 3 [OMIM gene]
- Muts homolog 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Endometrial carcinoma [HPO term]
- Somatic mutation [HPO term]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Cancer of endometrium [MedDRA LLT]
- Carcinoma endometrial [MedDRA LLT]
- Endometrial Carcinoma [NCIt concept]
- Endometrial cancer [MedDRA Preferred Term]
- Endometrial cancer NOS [MedDRA LLT]
- Endometrial carcinoma [MedDRA LLT]
- Endometrial carcinoma [HPO term]
- Endometrial carcinoma (disorder) [SNOMED CT concept]
- endometrial carcinoma [MeSH concept]

Keyword's position in hierarchy(ies) :

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