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

show annotations for term's descendants           Sort by:
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
PMID:24262094, PMID:25862608 NCBI chr 1:279,798,187...279,811,372
Ensembl chr 1:279,798,187...279,811,372
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        pancreas disease 1103
          Pancreatic Lipase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          inherited metabolic disorder 2232
            lipid metabolism disorder 900
              Pancreatic Lipase Deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.