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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:RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
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Accession:DOID:9002248 term browser browse the term
Synonyms:exact_synonym: RDEOA
 narrow_synonym: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
 primary_id: OMIM:617175;   RDO:9001303
 xref: NCI:C164155


show annotations for term's descendants           Sort by:
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26908610 PMID:27486781 PMID:28492532 PMID:31494449 NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      eye disease 3497
        fundus dystrophy 705
          RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              retinal disease 1224
                retinal degeneration 856
                  fundus dystrophy 705
                    RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
paths to the root