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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        fundus dystrophy 333
          retinitis pigmentosa 267
            retinitis pigmentosa 42 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            retinal disease 777
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 267
                    retinitis pigmentosa 42 1
paths to the root