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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:enterokinase deficiency
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Accession:DOID:0111667 term browser browse the term
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. (DO)
Synonyms:exact_synonym: congenital enterokinase deficiency;   congenital enteropathy due to enteropeptidase deficiency;   deficiency of enteropeptidase;   enteropeptidase deficiency
 primary_id: MESH:C562649
 alt_id: OMIM:226200
 xref: ORDO:168601
For additional species annotation, visit the Alliance of Genome Resources.

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enterokinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss15 transmembrane serine protease 15 ISO ClinVar Annotator: match by term: Enterokinase deficiency OMIM
PMID:1147667 PMID:4322674 PMID:11719902 PMID:16199547 PMID:25741868 More... NCBI chr11:17,677,741...17,802,255
Ensembl chr11:17,677,741...17,802,255
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      gastrointestinal system disease 6992
        intestinal disease 3098
          enterokinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          monogenic disease 10257
            autosomal genetic disease 9392
              autosomal recessive disease 6473
                enterokinase deficiency 1
paths to the root