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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 the TMPRSS15 gene on chromosome 21q21.1. (DO)
Synonyms:exact_synonym: TMPRSS15-RELATED CONDITION;   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


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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 | ClinVar Annotator: match by term: TMPRSS15-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        intestinal disease 3077
          enterokinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                enterokinase deficiency 1
paths to the root