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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 intellectual disability
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Accession:DOID:0112292 term browser browse the term
Definition:A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. (DO)
Synonyms:exact_synonym: spondyloepiphyseal dysplasia tarda with mental retardation
 primary_id: MESH:C564796
 alt_id: DOID:9005685;   MIM:271620
 xref: ORDO:163665


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        intellectual disability 1376
          spondyloepiphyseal dysplasia tarda with intellectual disability 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Skin and Connective Tissue Diseases 4866
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              osteochondrodysplasia 687
                spondyloepiphyseal dysplasia 13
                  spondyloepiphyseal dysplasia tarda 1
                    spondyloepiphyseal dysplasia tarda with intellectual disability 0
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