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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 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia OMIM
ClinVar
PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      bone development disease 1760
        osteochondrodysplasia 604
          spondyloepimetaphyseal dysplasia 76
            X-linked spondyloepimetaphyseal dysplasia 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              osteochondrodysplasia 604
                spondyloepimetaphyseal dysplasia 76
                  X-linked spondyloepimetaphyseal dysplasia 2
paths to the root