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:Digital Arthropathy-Brachydactyly, Familial
go back to main search page
Accession:DOID:9006934 term browser browse the term
Synonyms:exact_synonym: FDAB
 primary_id: MESH:C564656
 alt_id: OMIM:606835
 xref: NCI:C175208


show annotations for term's descendants           Sort by:
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Diseases of the Aged 1246
      osteoarthritis 241
        Digital Arthropathy-Brachydactyly, Familial 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Immune & Inflammatory Diseases 5008
        immune system disease 4336
          primary immunodeficiency disease 3735
            autoimmune disease 1994
              autoimmune disease of musculoskeletal system 894
                rheumatic disease 687
                  osteoarthritis 241
                    Digital Arthropathy-Brachydactyly, Familial 1
paths to the root