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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:Complement Factor H Deficiency
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Accession:DOID:9005377 term browser browse the term
Synonyms:exact_synonym: C3 glomerulopathy 1;   C3G1;   CFH Deficiency;   CFHD;   Factor H Deficiency
 primary_id: MESH:C562875
 alt_id: MIM:609814



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Complement Factor H Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFH DEFICIENCY | ClinVar Annotator: match by term: Factor H deficiency
CTD
ClinVar
OMIM
PMID:2950269 PMID:2966809 PMID:3418956 PMID:7742208 PMID:8072530 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            Complement Factor H Deficiency 1
paths to the root