Disease-gene associations mined from literature

Human genes for enterokinase deficiency

Enterokinase deficiency [DOID:0111667]

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.

Synonyms:  enterokinase deficiency,  DOID:0111667,  enterokinase deficiencies,  congenital enterokinase deficiency,  congenital enteropathy due to enteropeptidase deficiency ...