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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


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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 Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked ClinVar PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked OMIM
ClinVar		 PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        bone disease 4302
          spinal disease 1135
            X-linked spondyloepiphyseal dysplasia tarda 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                spondyloepiphyseal dysplasia 17
                  spondyloepiphyseal dysplasia tarda 3
                    X-linked spondyloepiphyseal dysplasia tarda 2
paths to the root