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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:occult macular dystrophy
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Accession:DOID:0050578 term browser browse the term
Definition:A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO)
Synonyms:exact_synonym: OCMD;   OMD
 broad_synonym: RP1L1-RELATED CONDITION
 primary_id: OMIM:613587;   RDO:0009914


show annotations for term's descendants           Sort by:
occult macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:25741868 NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:1882937 PMID:2215617 PMID:8486634 PMID:20591486 PMID:25265376 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy | ClinVar Annotator: match by term: RP1L1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12724644 PMID:20826268 PMID:22277662 PMID:22504327 PMID:23281133 More... NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Diseases of the Aged 1465
      macular degeneration 156
        occult macular dystrophy 3
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              eye degenerative disease 848
                retinal degeneration 846
                  macular degeneration 156
                    occult macular dystrophy 3
paths to the root