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 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
Advanced Search (OLGA)

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:optic disc anomalies with retinal and/or macular dystrophy
go back to main search page
Accession:DOID:0080635 term browser browse the term
Definition:A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)
Synonyms:exact_synonym: ODRMD;   SIX6-RELATED CONDITION
 primary_id: MIM:212550


show annotations for term's descendants           Sort by:
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | ClinVar Annotator: match by term: SIX6-related condition OMIM
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 More... NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | ClinVar Annotator: match by term: SIX6-related condition ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 More... NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        microphthalmia 229
          optic disc anomalies with retinal and/or macular dystrophy 2
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              Eye Abnormalities 814
                microphthalmia 229
                  optic disc anomalies with retinal and/or macular dystrophy 2
paths to the root