Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Cerebroretinal Microangiopathy with Calcifications and Cysts
go back to main search page
Accession:DOID:9003025 term browser browse the term
Synonyms:exact_synonym: CRMCC;   Coats Plus Syndrome
 primary_id: MESH:C567401
 xref: OMIM:PS612199


show annotations for term's descendants           Sort by:
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CTS telomere maintenance complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Stn1 STN1, CST complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1, CST complex subunit ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      Cysts 301
        Central Nervous System Cysts 9
          Cerebroretinal Microangiopathy with Calcifications and Cysts 4
            Cerebroretinal Microangiopathy with Calcifications and Cysts 1 2
            Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
            Cerebroretinal Microangiopathy with Calcifications and Cysts 3 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Neurologic Manifestations 9852
          sensory system disease 6828
            eye disease 3477
              retinal disease 1239
                retinal vascular disease 213
                  retinal telangiectasia 14
                    Coats disease 11
                      Cerebroretinal Microangiopathy with Calcifications and Cysts 4
                        Cerebroretinal Microangiopathy with Calcifications and Cysts 1 2
                        Cerebroretinal Microangiopathy with Calcifications and Cysts 2 1
                        Cerebroretinal Microangiopathy with Calcifications and Cysts 3 1
paths to the root