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Disease Ontology Browser
enterokinase deficiency (DOID:0111667)
Alliance: disease page
Synonyms: congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency; deficiency of enteropeptidase
Alt IDs: OMIM:226200, MESH:C562649, ORDO:168601, UMLS_CUI:C0268416
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.20
The Jackson Laboratory