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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:X-linked spondyloepiphyseal dysplasia tarda
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Accession:DOID:0080362 term browser browse the term
Definition:A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: SED tarda;   SED tarda, X-linked;   SEDT;   X-linked SED;   X-linked SEDT
 primary_id: OMIM:313400
 xref: ORDO:93284
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc2 trafficking protein particle complex subunit 2 ISO OMIM NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        bone disease 3124
          spinal disease 926
            X-linked spondyloepiphyseal dysplasia tarda 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                spondyloepiphyseal dysplasia 13
                  spondyloepiphyseal dysplasia tarda 1
                    X-linked spondyloepiphyseal dysplasia tarda 1
paths to the root