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:infantile cerebellar-retinal degeneration
go back to main search page
Accession:DOID:0050883 term browser browse the term
Definition:A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO)
Synonyms:exact_synonym: ICRD
 broad_synonym: ACO2-RELATED CONDITION;   ACO2-RELATED DISORDER
 primary_id: OMIM:614559
 xref: GARD:13264


show annotations for term's descendants           Sort by:
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334 		JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chr15:81,799,231...81,813,824
Ensembl chr15:81,772,429...81,810,441 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      nervous system disease 13506
        neurodegenerative disease 4811
          primary cerebellar degeneration 600
            infantile cerebellar-retinal degeneration 2
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      nervous system disease 13506
        Neurologic Manifestations 9793
          sensory system disease 6754
            eye disease 3465
              eye degenerative disease 860
                retinal degeneration 858
                  infantile cerebellar-retinal degeneration 2
paths to the root