Term Name: enterokinase deficiency
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 )

Relationships
is a type of: autosomal recessive disease intestinal disease