Oligodontia-colorectal cancer syndrome

Preferred Label : Oligodontia-colorectal cancer syndrome;

Symbol : ODCRCS;

CISMeF acronym : ODCRCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tooth agenesis-colorectal cancer syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the axis inhibitor 2 gene (AXIN2, 604025.0003);

Neoplasia : Colorectal cancer, early onset; Breast cancer, early-onset (in some patients);

Prefixed ID : #608615;

Details

Origin ID

608615;

UMLS CUI

C1837750;

Currated CISMeF NLP mapping
- Oligodontia - cancer predisposition syndrome [ICD-11 More detail]
- Oligodontia-Colorectal cancer syndrome [MeSH concept]
- Oligodontia-Colorectal cancer syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Axis inhibitor 2 [OMIM gene]
HPO term(s)
- Absent eyebrow [HPO term]
- Adenomatous colonic polyposis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Colon cancer [HPO term]
- Fundic gland polyposis [HPO term]
- Oligodontia [HPO term]
- Short eyelashes [HPO term]
- Sparse axillary hair [HPO term]
- Sparse body hair [HPO term]
- Sparse scalp hair [HPO term]
ORDO concept(s)
- Oligodontia-cancer predisposition syndrome [ORDO Disease]
See also inter- (CISMeF)
- AXIN2 wt Allele [NCIt concept]
- Oligodontia and cancer predisposition syndrome (disorder) [SNOMED CT concept]
- Oligodontia-cancer predisposition syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Oligodontia-Colorectal cancer syndrome [MeSH Supplementary Concept]
- Oligodontia-Colorectal cancer syndrome [MeSH concept]
- Oligodontia-cancer predisposition syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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