Colorectal cancer, susceptibility to, 10

Preferred Label : Colorectal cancer, susceptibility to, 10;

Symbol : CRCS10;

CISMeF acronym : CRCS10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Colorectal cancer, susceptibility to, on chromosome 19q;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the polymerase (DNA-directed), delta 1, catalytic subunit gene (POLD1, 174761.0001);

Neoplasia : Colorectal carcinoma; Endometrial carcinoma;

Prefixed ID : #612591;

Détails

Origin ID

612591;

UMLS CUI

C2675481;

Automatic exact mappings (from CISMeF team)
- POLD1 wt Allele [NCIt concept]
Genes related to phenotype
- Polymerase (dna-directed), delta 1, catalytic subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Carcinoma [HPO term]
- Colorectal polyposis [HPO term]
- Endometrial carcinoma [HPO term]
ORDO concept(s)
- Attenuated familial adenomatous polyposis [ORDO Disease]
- Polymerase proofreading-related adenomatous polyposis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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