Familial adenomatous polyposis 3

Preferred Label : Familial adenomatous polyposis 3;

Symbol : FAP3;

CISMeF acronym : FAP3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the endonuclease III-like 1 gene (NTHL1, 602656.0001);

Neoplasia : Meningioma; Increased susceptibility to multiple carcinomas; Colorectal cancer; Skin cancer; Endometrial cancer; Bladder cancer; Breast cancer;

Prefixed ID : #616415;

Details

Origin ID

616415;

UMLS CUI

C4225157;

Automatic exact mappings (from CISMeF team)
- familial adenomatous polyposis 3 [DO Concept]
Currated CISMeF NLP mapping
- NTHL1-related attenuated familial adenomatous polyposis [ORDO Disease]
DO Cross reference
- familial adenomatous polyposis 3 [DO Concept]
Genes related to phenotype
- Endonuclease III-like 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bladder neoplasm [HPO term]
- Breast carcinoma [HPO term]
- Meningioma [HPO term]
- Neoplasm of the skin [HPO term]
ORDO concept(s)
- Attenuated familial adenomatous polyposis [ORDO Disease]
- NTHL1-related attenuated familial adenomatous polyposis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NTHL1-related attenuated familial adenomatous polyposis [ORDO Disease]

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