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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 spondyloepimetaphyseal dysplasia
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Accession:DOID:0112150 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (DO)
Synonyms:exact_synonym: SEMD, X-Linked;   SEMDX
 primary_id: MESH:C564714
 alt_id: OMIM:300106
 xref: GARD:4979;   ORDO:93349
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia ClinVar PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 PMID:9195223 PMID:9553942 PMID:10190819 PMID:12175782 PMID:14767898 PMID:15192815 PMID:15800013 PMID:15811009 PMID:16087056 PMID:17285533 PMID:20195870 PMID:20661612 PMID:21068741 PMID:21700483 PMID:21966424 PMID:23419472 PMID:23566833 PMID:26260157 PMID:26454440 PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia
ClinVar
OMIM
PMID:8064814 PMID:25741868 PMID:27236923 NCBI chr  X:157,319,042...157,331,204
Ensembl chr  X:157,319,046...157,331,204
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      bone development disease 1413
        osteochondrodysplasia 474
          spondyloepimetaphyseal dysplasia 77
            X-linked spondyloepimetaphyseal dysplasia 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              osteochondrodysplasia 474
                spondyloepimetaphyseal dysplasia 77
                  X-linked spondyloepimetaphyseal dysplasia 2
paths to the root