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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:Phospholipidosis
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Accession:DOID:9007398 term browser browse the term
Definition:Conditions characterized by abnormal phospholipid deposition due to disturbance in lipid metabolism.
Synonyms:exact_synonym: phospholipidoses
For additional species annotation, visit the Alliance of Genome Resources.



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Phospholipidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR2B Fc fragment of IgG receptor IIb ISO mRNA:increased expression:heart, blood RGD PMID:25580480 RGD:11344961 NCBI chr38:20,980,777...20,994,403 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17652
    Nutritional and Metabolic Diseases 7290
      disease of metabolism 7290
        lipid metabolism disorder 1522
          lipid storage disease 769
            Phospholipidosis 1
Path 2
Term Annotations click to browse term
  disease 17652
    Developmental Disease 17358
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17214
        genetic disease 17167
          inherited metabolic disorder 5597
            lipid metabolism disorder 1522
              lipid storage disease 769
                Phospholipidosis 1
paths to the root