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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:fundus albipunctatus
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Accession:DOID:11105 term browser browse the term
Definition:A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)
Synonyms:exact_synonym: pigmentary retinal dystrophy
 narrow_synonym: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE;   RETINITIS PUNCTATA ALBESCENS;   RETINITIS PUNCTATA ALBESCENS, AUTOSOMAL DOMINANT
 primary_id: MESH:C562733
 alt_id: OMIM:136880
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
fundus albipunctatus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd63 Cd63 molecule ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11053296 PMID:11078852 More... NCBI chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178 		JBrowse link
G Mfrp membrane frizzled-related protein ISS OMIM:136880 MouseDO NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Prph2 peripherin 2 ISO DNA:deletion:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant		 OMIM
CTD
ClinVar
RGD		 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8994365 More... RGD:8553223 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens		 OMIM
CTD
ClinVar		 PMID:10369264 PMID:10617778 PMID:11053295 PMID:11053296 PMID:11078852 More... NCBI chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558 		JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens		 OMIM
CTD
ClinVar		 PMID:1484692 PMID:1833777 PMID:1862076 PMID:1882937 PMID:1924344 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens		 OMIM
ClinVar
CTD		 PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        retinal disease 1215
          fundus albipunctatus 6
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    fundus albipunctatus 6
paths to the root