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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:age related macular degeneration 4
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Accession:DOID:0110017 term browser browse the term
Definition:An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: ARMD4
 primary_id: MESH:C565196
 alt_id: OMIM:610698
 xref: NCI:C174215


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age related macular degeneration 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:610698
ClinVar Annotator: match by term: Age related macular degeneration 4		 CTD
MouseDO
ClinVar
OMIM		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Diseases of the Aged 1474
      macular degeneration 161
        degeneration of macula and posterior pole 78
          age related macular degeneration 48
            age related macular degeneration 4 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      age related macular degeneration 48
                        age related macular degeneration 4 1
paths to the root