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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:scotoma
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Accession:DOID:9335 term browser browse the term
Definition:A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions.
Synonyms:exact_synonym: Altitudinal Scotomas;   Arcuate Scotoma;   Arcuate Scotomas;   Bjerrum Scotoma;   Bjerrum Scotomas;   Blind spot area scotoma;   Central Scotoma;   Central Scotomas;   Centrocecal Scotoma;   Centrocecal Scotomas;   Enlarged blind spot;   Paracecal Scotoma;   Paracecal Scotomas;   Paracentral Scotoma;   Paracentral Scotomas;   Peripheral Scotoma;   Peripheral Scotomas;   Ring Scotoma;   Ring Scotomas;   Scintillating Scotoma;   Scintillating Scotomas;   Scotoma of blind spot area;   Scotomas;   Sector Scotoma;   Sector or arcuate visual field defects;   altitudinal scotoma;   enlarged angioscotoma;   enlarged paracaecal scotoma;   generalized visual field contraction or constriction;   sector scotomas
 primary_id: MESH:D012607
 alt_id: RDO:0004173
 xref: ICD10CM:H53.42;   ICD10CM:H53.45;   ICD9CM:368.42;   ICD9CM:368.44
For additional species annotation, visit the Alliance of Genome Resources.



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scotoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:25741868 PMID:28118664 PMID:28492532 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    sensory system disease 6388
      eye disease 2927
        scotoma 1
          Acute Zonal Occult Outer Retinopathy 0
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        Neurologic Manifestations 6148
          Sensation Disorders 1178
            Vision Disorders 265
              scotoma 1
                Acute Zonal Occult Outer Retinopathy 0
paths to the root