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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
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Accession:DOID:0080362 term browser browse the term
Definition:A spondyloepimetaphyseal 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;   X-linked spondyloepiphyseal dysplasia tarda
 primary_id: OMIM:313400
 xref: ORDO:93284
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda ClinVar
OMIM
PMID:9990351 PMID:10431248 PMID:10999831 PMID:11326333 PMID:11424925 PMID:12030902 PMID:12446987 PMID:12919139 PMID:14755465 PMID:18414213 PMID:23656395 PMID:25741868 NCBI chr  X:29,550,871...29,562,135
Ensembl chr  X:29,550,873...29,556,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      bone development disease 1317
        osteochondrodysplasia 446
          spondyloepimetaphyseal dysplasia 77
            spondyloepiphyseal dysplasia tarda 1
              Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
              Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
              Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone development disease 1317
              osteochondrodysplasia 446
                spondyloepimetaphyseal dysplasia 77
                  spondyloepiphyseal dysplasia tarda 1
                    Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
                    Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
                    Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
paths to the root