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Summary Literature (0)
DOID:0111667 - enterokinase deficiency

Disease Ontology 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.

Synonyms: congenital enterokinase deficiency, congenital enteropathy due to enteropeptidase deficiency, deficiency of enteropeptidase

Xenbase Genes : tmprss15


MIM:
MIM:226200 - ENTEROKINASE DEFICIENCY

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), intestinal disease (is_a)