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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: RP WITH OR WITHOUT PPRPE;   RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM;   RP12;   retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium
 primary_id: MESH:C563999
 alt_id: OMIM:600105


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:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:600105
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12		 OMIM
CTD
MouseDO
ClinVar		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:8069649 PMID:9536098 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Dennd1b DENN domain containing 1B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601 		JBrowse link
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:51,130,908...51,156,383
Ensembl chr13:51,130,920...51,156,381 		JBrowse link
G Zbtb41 zinc finger and BTB domain containing 41 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:51,042,948...51,065,768
Ensembl chr13:51,042,948...51,065,768 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinitis pigmentosa 12 5
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 12 5
paths to the root