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 3
go back to main search page
Accession:DOID:9000987 term browser browse the term
Definition:An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Caused by homozygous mutation in the POT1 gene on chromosome 7q31.
Synonyms:exact_synonym: CRMCC3
 primary_id: OMIM:620368


show annotations for term's descendants           Sort by:
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9737
      Cysts 349
        Central Nervous System Cysts 11
          Cerebroretinal Microangiopathy with Calcifications and Cysts 4
            Cerebroretinal Microangiopathy with Calcifications and Cysts 3 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      nervous system disease 26235
        Neurologic Manifestations 15391
          sensory system disease 9738
            eye disease 4946
              retinal disease 2030
                retinal vascular disease 218
                  retinal telangiectasia 15
                    Coats disease 12
                      Cerebroretinal Microangiopathy with Calcifications and Cysts 4
                        Cerebroretinal Microangiopathy with Calcifications and Cysts 3 1
paths to the root