Diarrhea 12, with microvillus atrophy

Preferred Label : Diarrhea 12, with microvillus atrophy;

Symbol : DIAR12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microvillus inclusion disease 2; MVID2;

Prefixed ID : #619445;

Details

Origin ID

619445;

UMLS CUI

C5561942;

Genes related to phenotype
- Syntaxin 3 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Dependency on parenteral nutrition [HPO term]
- Metabolic acidosis [HPO term]
- Microvillar PAS-positive secretory granules [HPO term]
- Microvillus inclusions [HPO term]
- Osteopenia [HPO term]
- Respiratory tract infection [HPO term]
- Secretory diarrhea [HPO term]
- Villous atrophy [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Microvillus inclusion disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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