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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
 broad_synonym: KLHL7-RELATED CONDITION
 primary_id: MESH:C567854
 alt_id: OMIM:612943



show annotations for term's descendants           Sort by:
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 term: Retinitis pigmentosa 42
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1872134 PMID:9536098 PMID:17576681 PMID:19520207 PMID:21828050 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    sensory system disease 6928
      eye disease 3459
        fundus dystrophy 700
          retinitis pigmentosa 604
            retinitis pigmentosa 42 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        Neurologic Manifestations 10029
          sensory system disease 6928
            eye disease 3459
              eye degenerative disease 849
                retinal degeneration 847
                  fundus dystrophy 700
                    retinitis pigmentosa 604
                      retinitis pigmentosa 42 1
paths to the root