| 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 the TMPRSS15 gene on chromosome 21q21.1. https://www.ncbi.nlm.nih.gov/pubmed/11719902 |
| Xrefs |
SNOMEDCT_US_2023_03_01:190952002 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital enterokinase deficiency [EXACT] congenital enteropathy due to enteropeptidase deficiency [EXACT] deficiency of enteropeptidase [EXACT] |
| Parent Relationships |
is_a intestinal disease |