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Metadata
ID DOID:0111667
Name enterokinase deficiency
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 TMPRSS15 on chromosome 21q21.1.
https://www.ncbi.nlm.nih.gov/pubmed/11719902
Xrefs

MESH:C562649

OMIM:226200

ORDO:168601

SNOMEDCT_US_2020_09_01:190952002

UMLS_CUI:C0268416

Synonyms

congenital enterokinase deficiency [EXACT]

congenital enteropathy due to enteropeptidase deficiency [EXACT]

deficiency of enteropeptidase [EXACT]

Parent Relationships

is_a intestinal disease

is_a autosomal recessive disease

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