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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 ClinVar Annotator: match by term: Age related macular degeneration 4 ClinVar
OMIM		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14090
    Diseases of the Aged 1169
      macular degeneration 143
        degeneration of macula and posterior pole 69
          age related macular degeneration 42
            age related macular degeneration 4 1
Path 2
Term Annotations click to browse term
  disease 14090
    Pathological Conditions, Signs and Symptoms 10993
      Signs and Symptoms 9105
        Neurologic Manifestations 8809
          sensory system disease 6154
            eye disease 3170
              retinal disease 1104
                retinal degeneration 782
                  macular degeneration 143
                    degeneration of macula and posterior pole 69
                      age related macular degeneration 42
                        age related macular degeneration 4 1
paths to the root