Diarrhea 11, malabsorptive, congenital

Preferred Label : Diarrhea 11, malabsorptive, congenital;

Symbol : DIAR11;

CISMeF acronym : DIAR11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intractable diarrhea of infancy syndrome; IDIS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by deletion of the intestine-critical region (ICR) flanking the proline- and glutamate-rich protein with coiled-coil domain-1 gene (PERCC1, 618656.0001);

Prefixed ID : #618662;

Details

Origin ID

618662;

UMLS CUI

C5231449;

Genes related to phenotype
- Proline- and glutamate-rich protein with coiled-coil domain 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Chronic diarrhea with villous atrophy [ORDO Disease]
See also inter- (CISMeF)
- Chronic diarrhea with villous atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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