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DO Term : enterokinase deficiency [DOID:0111667] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 226200,
  • SNOMEDCT_US_2023_03_01:190952002,
  • ORDO:168601,
  • MESH:C562649,
  • OMIM:226200,
  • congenital enterokinase deficiency,
  • UMLS_CUI:C0268416,
  • congenital enteropathy due to enteropeptidase deficiency,
  • deficiency of enteropeptidase
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