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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;   PNLIP-RELATED CONDITION;   PNLIPD
 primary_id: MIM:614338;   RDO:9000628
 xref: NCI:C129030


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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: PNLIP-related condition | ClinVar Annotator: match by term: Pancreatic lipase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24262094 PMID:25741868 PMID:25862608 More... NCBI chr 1:267,760,073...267,797,797
Ensembl chr 1:257,798,581...257,811,654 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      endocrine system disease 7042
        pancreas disease 1256
          Pancreatic Lipase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            lipid metabolism disorder 1904
              Pancreatic Lipase Deficiency 1
paths to the root