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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 12
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Accession:DOID:0110358 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM;   RP WITH OR WITHOUT PPRPE;   RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM;   RP12
 primary_id: MESH:C563999
 alt_id: OMIM:600105;   RDO:0013102
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:17964524 PMID:28492532 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM
ClinVar Annotator: match by OMIM:600105
OMIM
ClinVar
PMID:1389483 PMID:1427914 PMID:2906847 PMID:8069649 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:16505055 PMID:16543197 PMID:16936081 PMID:17128490 PMID:17297678 PMID:17525851 PMID:17660513 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18682808 PMID:19140180 PMID:19339744 PMID:19401883 PMID:19763152 PMID:20079931 PMID:20301475 PMID:20307669 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22164218 PMID:22406018 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24535598 PMID:24715753 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25326637 PMID:25356976 PMID:25412400 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26147992 PMID:26667666 PMID:26914788 PMID:26957898 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27380427 PMID:27628848 PMID:27670293 PMID:27806333 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28819299 PMID:29068479 PMID:29178642 PMID:29186038 PMID:29200130 PMID:29391521 PMID:29641573 PMID:29844330 PMID:30029497 PMID:30311386 PMID:30576320 PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Zbtb41 zinc finger and BTB domain containing 41 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:17964524 PMID:28492532 NCBI chr13:56,513,231...56,542,444
Ensembl chr13:56,513,286...56,537,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        fundus dystrophy 339
          retinitis pigmentosa 270
            retinitis pigmentosa 12 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal degeneration 470
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 12 3
paths to the root