Term Name: | enterokinase deficiency |
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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 the TMPRSS15 gene on chromosome 21q21.1. |
Ontology: | Human Disease [DOID:0111667] ( DOID:0111667 ) |