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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
 primary_id: MESH:C567089;   RDO:0015263
 alt_id: OMIM:611771
For additional species annotation, visit the Alliance of Genome Resources.


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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)
ClinVar Annotator: match by OMIM:611771
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9176854, PMID:10432380, PMID:10903326, PMID:18077821, PMID:10903326, PMID:9176854 RGD:6903201, RGD:6903202 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        urinary system disease 2069
          kidney disease 1857
            Lipoprotein Glomerulopathy 1
paths to the root

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