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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:Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency
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Accession:DOID:9003092 term browser browse the term
Synonyms:exact_synonym: MPGN II with Complement Factor H Deficiency;   Membranoproliferative Glomerulonephritis, Type Ii, With Complement Factor H Deficiency
 alt_id: DOID:9001625



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Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement component factor h ISO
IMP
DNA:SNPs,Haplotype:: RGD PMID:17517971 PMID:17517971 RGD:7364995, RGD:7364995 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      immune system disease 4464
        membranoproliferative glomerulonephritis 39
          Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Urogenital Diseases 4894
        urinary system disease 2501
          kidney disease 2258
            nephritis 411
              glomerulonephritis 360
                mesangial proliferative glomerulonephritis 50
                  Chronic Mesangial Proliferative Glomerulonephritis 41
                    membranoproliferative glomerulonephritis 39
                      Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency 1
paths to the root