enterokinase deficiency (DOID:0111667)
Alliance: disease page
Synonyms: congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency; deficiency of enteropeptidase
Alt IDs: OMIM:226200, MESH:C562649, ORDO:168601, UMLS_CUI:C0268416
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.