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:multiple epiphyseal dysplasia 7
go back to main search page
Accession:DOID:0070302 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: EDM7
 primary_id: OMIM:617719


show annotations for term's descendants           Sort by:
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 OMIM
ClinVar		 PMID:20358597 PMID:21037275 PMID:21412251 PMID:25741868 PMID:28492532 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      bone development disease 2307
        osteochondrodysplasia 861
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia 7 1
paths to the root