Desmoid disease, hereditary

Preferred Label : Desmoid disease, hereditary;

Symbol : DESMD;

CISMeF acronym : FIF; DESMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fibromatosis, familial infiltrative; FIF;

Included titles and symbols : Desmoid tumor caused by somatic mutation;

Description : Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000).;

Inheritance : Autosomal dominant;

Prefixed ID : #135290;

Details

Origin ID

135290;

UMLS CUI

C1851124;

Currated CISMeF NLP mapping
- Desmoid disease, hereditary [MeSH concept]
- Desmoid tumor [PASCAL descriptor]
- Desmoid tumor [ORDO Disease]
- Desmoid tumor [MedDRA LLT]
- Desmoid tumors [HPO term]
- Desmoid tumour [MedDRA Preferred Term]
- aggressive fibromatosis [SNOMED Notion]
- desmoid [Radlex concept]
- desmoid disease, hereditary [MeSH Supplementary Concept]
- fibromatosis, aggressive [MeSH Descriptor]
DO Cross reference
- hereditary desmoid disease [DO Concept]
Genes related to phenotype
- Apc regulator of wnt signaling pathway [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Colon cancer [HPO term]
- Desmoid tumors [HPO term]
- Epidermoid cyst [HPO term]
ORDO concept(s)
- Desmoid tumor [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desmoid disease, hereditary [MeSH concept]
- desmoid disease, hereditary [MeSH Supplementary Concept]
- hereditary desmoid disease [DO Concept]

Keyword's position in hierarchy(ies) :

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