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retinitis pigmentosa 42 - Ontology Report - Rat Genome Database

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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: MIM:612943

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retinitis pigmentosa 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Klhl7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chrNW_004624739:7,470,304...7,534,886
Ensembl chrNW_004624739:7,470,306...7,535,166 		JBrowse link
G G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr21:35,148,265...35,218,256
Ensembl chr21:35,148,043...35,218,160 		JBrowse link
G P KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695 		JBrowse link
G S Klhl7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
G D KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr14:36,793,691...36,859,483
Ensembl chr14:36,802,984...36,887,588 		JBrowse link
G B KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919 		JBrowse link
G C Klhl7 kelch like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chrNW_004955410:25,406,775...25,477,552
Ensembl chrNW_004955410:25,406,386...25,478,111 		JBrowse link
G R 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:18414213 PMID:19520207 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
G M Klhl7 kelch-like 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:18414213 PMID:19520207 More... NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		JBrowse link
G H KLHL7 kelch like family member 7 IAGP
EXP		 ClinVar Annotator: match by term: Retinitis pigmentosa 42
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        fundus dystrophy 8066
          retinitis pigmentosa 6267
            retinitis pigmentosa 42 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              eye degenerative disease 10031
                retinal degeneration 9924
                  fundus dystrophy 8066
                    retinitis pigmentosa 6267
                      retinitis pigmentosa 42 10
paths to the root