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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 OMIM:226200
ClinVar Annotator: match by term: Enterokinase deficiency
ClinVar
OMIM
PMID:1147667 PMID:4322674 PMID:11719902 PMID:25741868 PMID:28492532 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 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2650
          enterokinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                enterokinase deficiency 1
paths to the root