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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:Lipoprotein Glomerulopathy
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Accession:DOID:9008549 term browser browse the term
Synonyms:exact_synonym: LPG
 related_synonym: APOE KYOTO;   APOE SENDAI;   APOE2 Isoforms
 xref: MESH:C567089;   MIM:611771;   MONDO:0012725;   ORDO:329481


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Lipoprotein Glomerulopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO human mutant gene (p.R145P) in mouse knockout
DNA:missense mutation:cds:p.R145P (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lipoprotein glomerulopathy 		CTD
ClinVar
OMIM
RGD		 PMID:2101409 PMID:2987927 PMID:3243553 PMID:3353383 PMID:3922972 More... RGD:6903201, RGD:6903202 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Urogenital Diseases 4547
        urinary system disease 2176
          kidney disease 1928
            Lipoprotein Glomerulopathy 1
paths to the root