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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: CFH Deficiency;   CFHD;   Factor H Deficiency
 primary_id: MESH:C562875;   RDO:0012407
 alt_id: OMIM:609814
For additional species annotation, visit the Alliance of Genome Resources.


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Complement Factor H Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by OMIM:609814
ClinVar Annotator: match by term: Factor H deficiency
ClinVar Annotator: match by term: CFH DEFICIENCY
OMIM
ClinVar
PMID:2950269, PMID:2966809, PMID:7742208, PMID:10206995, PMID:10803850, PMID:10975323, PMID:11158219, PMID:12424708, PMID:12697737, PMID:14978182, PMID:17018561, PMID:22019782, PMID:22456601, PMID:24036949, PMID:24498017, PMID:25741868, PMID:25814826, PMID:25880396 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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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
            Complement Factor H Deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.