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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:Macular Degeneration, Early-Onset
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Accession:DOID:9006437 term browser browse the term
Synonyms:exact_synonym: EOMD
 broad_synonym: FBN2-RELATED CONDITION
 primary_id: MIM:616118


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Macular Degeneration, Early-Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: FBN2-related condition | ClinVar Annotator: match by term: Macular degeneration, early-onset OMIM
ClinVar		 PMID:9536098 PMID:11754102 PMID:16199547 PMID:16835936 PMID:17345643 More... NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Diseases of the Aged 1475
      macular degeneration 161
        Macular Degeneration, Early-Onset 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              eye degenerative disease 856
                retinal degeneration 854
                  macular degeneration 161
                    Macular Degeneration, Early-Onset 1
paths to the root