FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term enterokinase deficiency ID (Ontology) DOID:0111667 (Human Disease)
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.
Also Known As "congenital enterokinase deficiency" ; "congenital enteropathy due to enteropeptidase deficiency" ; "deficiency of enteropeptidase"
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 Genes
 enterokinase deficiency       1
 for disease ribbon | enterokinase deficiency       1
 model of | enterokinase deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
gastrointestinal system disease  |
 |__intestinal disease___________|
                                 enterokinase deficiency  1 rec.
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Is a autosomal recessive disease
intestinal disease
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Synonyms
  • "congenital enterokinase deficiency" EXACT
    "congenital enteropathy due to enteropeptidase deficiency" EXACT
    "deficiency of enteropeptidase" EXACT
Secondary IDs
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MESH:C562649
MIM:226200
ORDO:168601
SNOMEDCT_US_2023_03_01:190952002
UMLS_CUI:C0268416