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:brachydactyly type E1
go back to main search page
Accession:DOID:0110972 term browser browse the term
Definition:A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BDE1;   BRACHYDACTYLY SYNDROME TYPE E
 primary_id: MIM:113300


show annotations for term's descendants           Sort by:
brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:12414828 PMID:22233338 PMID:25741868 PMID:28492532 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      Congenital Foot Deformities 189
        brachydactyly type E1 2
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Skin and Connective Tissue Diseases 7701
        connective tissue disease 5951
          bone disease 4402
            bone development disease 2370
              dysostosis 630
                brachydactyly 34
                  Brachydactyly, Type E 3
                    brachydactyly type E1 2
paths to the root