Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Spondyloepiphyseal Dysplasia Tarda, Toledo Type
go back to main search page
Accession:DOID:9007242 term browser browse the term
Synonyms:exact_synonym: BCYM1B;   Paps-Chondroitin Sulfate Sulfotransferase Deficiency;   SED, chondroitin sulfate type;   Spondyloepiphyseal dysplasia, chondroitin sulfate type;   Toledo type brachyolmia;   brachyolmia type 1, Toledo type
 primary_id: MESH:C535787
 alt_id: OMIM:271630;   RDO:0001094
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        Dwarfism 488
          Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                spondyloepimetaphyseal dysplasia 78
                  spondyloepiphyseal dysplasia tarda 1
                    Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
paths to the root