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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
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: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 ClinVar Annotator: match by term: Retinitis pigmentosa 12 OMIM
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 chr13:51,130,851...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 18154
    sensory system disease 6409
      eye disease 2937
        fundus dystrophy 390
          retinitis pigmentosa 314
            retinitis pigmentosa 12 5
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          eye disease 2937
            retinal disease 872
              retinal degeneration 531
                fundus dystrophy 390
                  retinitis pigmentosa 314
                    retinitis pigmentosa 12 5
paths to the root