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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 with Mental Retardation
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Accession:DOID:9005685 term browser browse the term
Synonyms:primary_id: MESH:C564796
 alt_id: RDO:0013639
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        intellectual disability 3384
          Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 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 with Mental Retardation 0
paths to the root