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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:Pancreatic Lipase Deficiency
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Accession:DOID:9006405 term browser browse the term
Synonyms:exact_synonym: PANCREATIC COLIPASE DEFICIENCY;   PNLIPD
 primary_id: OMIM:614338;   RDO:9000628
 xref: NCI:C129030
For additional species annotation, visit the Alliance of Genome Resources.



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Pancreatic Lipase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnlip pancreatic lipase ISO ClinVar Annotator: match by term: Pancreatic lipase deficiency OMIM
ClinVar
PMID:24262094 PMID:25862608 NCBI chr 1:257,774,012...257,811,656
Ensembl chr 1:257,798,581...257,811,654
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      endocrine system disease 5873
        pancreas disease 1131
          Pancreatic Lipase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          inherited metabolic disorder 2661
            lipid metabolism disorder 1023
              Pancreatic Lipase Deficiency 1
paths to the root