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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 42
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Accession:DOID:0110386 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. (DO)
Synonyms:exact_synonym: RP42
 primary_id: MESH:C567854
 alt_id: OMIM:612943;   RDO:0012067
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by OMIM:612943
ClinVar Annotator: match by term: Retinitis pigmentosa 42
OMIM
ClinVar
PMID:1872134, PMID:19520207, PMID:21828050, PMID:25741868, PMID:28492532 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        fundus dystrophy 333
          retinitis pigmentosa 266
            retinitis pigmentosa 42 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            retinal disease 780
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 266
                    retinitis pigmentosa 42 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.