OBO ID: DOID:0111667 |
Term Name: | enterokinase deficiency | Search Ontology: | |
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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 the TMPRSS15 gene on chromosome 21q21.1. https://www.ncbi.nlm.nih.gov/pubmed/11719902 | ||
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Ontology: | Human Disease ( DOID:0111667 ) |
OTHER enterokinase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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