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Spondyloepiphyseal Dysplasia Tarda, Toledo Type - Ontology Report - Rat Genome Database

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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
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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: MIM:271630

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14226
    Developmental Disease 12518
      bone development disease 2216
        Dwarfism 799
          Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
Path 2
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      Skin and Connective Tissue Diseases 6588
        connective tissue disease 5031
          bone disease 3678
            bone development disease 2216
              osteochondrodysplasia 848
                spondyloepiphyseal dysplasia 16
                  spondyloepiphyseal dysplasia tarda 3
                    Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
paths to the root