enterokinase deficiency

Term ID

DOID:0111667

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. https://www.ncbi.nlm.nih.gov/pubmed/11719902

References

• MESH:C562649
• OMIM:226200
• ORDO:168601
• SNOMEDCT_US_2023_03_01:190952002
• UMLS_CUI:C0268416

Ontology

Human Disease   ( DOID:0111667 )