Diarrhea 4, malabsorptive, congenital

Preferred Label : Diarrhea 4, malabsorptive, congenital;

Symbol : DIAR4;

CISMeF acronym : DIAR4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Enteric anendocrinosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neurogenin 3 gene (NEUROG3, 604882.0001);

Prefixed ID : #610370;

Details

Origin ID

610370;

UMLS CUI

C1835888;

Currated CISMeF NLP mapping
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) [SNOMED CT concept]
- Enteric anendocrinosis [ORDO Disease]
- congenital malabsorptive diarrhea 4 [DO Concept]
- diarrhea 4, malabsorptive, congenital [MeSH concept]
- diarrhea 4, malabsorptive, congenital [MeSH Supplementary Concept]
DO Cross reference
- congenital malabsorptive diarrhea 4 [DO Concept]
Genes related to phenotype
- Neurogenin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Hyperchloremic metabolic acidosis [HPO term]
- Neonatal onset [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Enteric anendocrinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) [SNOMED CT concept]
- Enteric anendocrinosis [ORDO Disease]
- congenital malabsorptive diarrhea 4 [DO Concept]
- diarrhea 4, malabsorptive, congenital [MeSH Supplementary Concept]
- diarrhea 4, malabsorptive, congenital [MeSH concept]

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