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:patterned macular dystrophy 2
go back to main search page
Accession:DOID:0060864 term browser browse the term
Definition:A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: MDPT2;   butterfly-shaped pigmentary macular dystrophy 2;   butterfly-shaped pigmentary maculary dystrophy 2
 primary_id: OMIM:608970
 alt_id: RDO:9004328


show annotations for term's descendants           Sort by:
patterned macular dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Patterned macular dystrophy 2 OMIM
ClinVar		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Diseases of the Aged 1232
      macular degeneration 151
        patterned macular dystrophy 4
          patterned macular dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              eye degenerative disease 823
                retinal degeneration 822
                  fundus dystrophy 693
                    dystrophies primarily involving the retinal pigment epithelium 5
                      patterned macular dystrophy 4
                        patterned macular dystrophy 2 1
paths to the root