Familial adenomatous polyposis 4

Preferred Label : Familial adenomatous polyposis 4;

Symbol : FAP4;

CISMeF acronym : FAP4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mutS homolog 3 gene (MSH3, 600887.0001);

Neoplasia : Increased susceptibility to multiple proliferative tumors or cancers; Astrocytoma; Colorectal cancer; Gastric cancer; Thyroid adenoma; Breast papilloma; Skin fibromas; Uterine leiomyomas;

Prefixed ID : #617100;

Details

Origin ID

617100;

UMLS CUI

C4310719;

Automatic exact mappings (from CISMeF team)
- familial adenomatous polyposis 4 [DO Concept]
Currated CISMeF NLP mapping
- MSH3-related attenuated familial adenomatous polyposis [ORDO Disease]
DO Cross reference
- familial adenomatous polyposis 4 [DO Concept]
Genes related to phenotype
- Muts homolog 3 [OMIM gene]
HPO term(s)
- Astrocytoma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Papilloma [HPO term]
- Stomach cancer [HPO term]
- Thyroid adenoma [HPO term]
ORDO concept(s)
- MSH3-related attenuated familial adenomatous polyposis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MSH3-related attenuated familial adenomatous polyposis [ORDO Disease]

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