OBO ID: DOID:0111667
Term Name: enterokinase deficiency Search Ontology:
Synonyms:
  • congenital enterokinase deficiency
  • congenital enteropathy due to enteropeptidase deficiency
  • deficiency of enteropeptidase
Definition: An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1. https://www.ncbi.nlm.nih.gov/pubmed/11719902
References:
Ontology: Human Disease   (DOID:0111667)
OTHER enterokinase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMPRSS15 Enterokinase deficiency 226200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None