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:distal arthrogryposis type 2B3
go back to main search page
Accession:DOID:0111602 term browser browse the term
Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DA2B3;   distal arthrogryposis type 2B3 (Sheldon-Hall)
 primary_id: OMIM:618436

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
distal arthrogryposis type 2B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM
ClinVar		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    physical disorder 4678
      arthrogryposis multiplex congenita 232
        distal arthrogryposis 103
          Distal Arthrogryposis Type 2 4
            distal arthrogryposis type 2B 4
              distal arthrogryposis type 2B3 1
Path 2
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      Skin and Connective Tissue Diseases 6538
        connective tissue disease 5037
          bone disease 3704
            bone inflammation disease 1240
              arthropathy 1220
                arthrogryposis multiplex congenita 232
                  distal arthrogryposis 103
                    Distal Arthrogryposis Type 2 4
                      distal arthrogryposis type 2B 4
                        distal arthrogryposis type 2B3 1
paths to the root