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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:retinitis pigmentosa 49
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Accession:DOID:0110377 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. (DO)
Synonyms:exact_synonym: RP49;   progressive retinal atrophy, CNGA1-related;   progressive retinal atrophy, due to CNGA1
 primary_id: OMIM:613756
 alt_id: OMIA:001977


show annotations for term's descendants           Sort by:
retinitis pigmentosa 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613756
ClinVar Annotator: match by term: Retinitis pigmentosa 49		 OMIM
CTD
MouseDO
ClinVar		 PMID:7479749 PMID:12362048 PMID:15570217 PMID:18310263 PMID:23462753 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:23661369 PMID:24938718 PMID:25741868 PMID:28492532 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            retinitis pigmentosa 49 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              retinal disease 1221
                retinal degeneration 851
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 49 2
paths to the root