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enterokinase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease intestinal disease
External Links
- Disease Ontology
- DOID:0111667
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98073 | Enteropeptidase |
