Diarrhea 6 - CISMeF

Preferred Label : Diarrhea 6;

Symbol : DIAR6;

CISMeF acronym : DIAR6;

Type : Phenotype, molecular basis known;

Description : Diarrhea-6 (DIAR6) is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanylate cyclase 2C gene (GUCY2C, 601330.0001);

Laboratory abnormalities : Vitamin B12 deficiency (in some patients);

Prefixed ID : #614616;

Détails

Origin ID

614616;

UMLS CUI

C3553270;

Currated CISMeF NLP mapping
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity [ORDO Disease]
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) [SNOMED CT concept]
- congenital diarrhea 6 [DO Concept]
DO Cross reference
- congenital diarrhea 6 [DO Concept]
Genes related to phenotype
- Guanylate cyclase 2c [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diarrhea [HPO term]
- Vitamin B12 deficiency [HPO term]
ORDO concept(s)
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity [ORDO Disease]
See also inter- (CISMeF)
- GUCY2C wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity [ORDO Disease]

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

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