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ONTOLOGY REPORT - ANNOTATIONS
Term:Desbuquois dysplasia
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Accession:DOID:0060462 term browser browse the term
Definition:An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)
Synonyms:exact_synonym: Desbuquois Syndrome;   micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
 narrow_synonym: Desbuquois dysplasia, Kim variant
 primary_id: MESH:C535943
 xref: GARD:1818;   NCI:C124056;   OMIM:PS251450;   ORDO:1425
For additional species annotation, visit the Alliance of Genome Resources.

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Desbuquois dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:11554173
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:11554173
Desbuquois Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:7240710
RGD:8554872
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
Desbuquois Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt1 xylosyltransferase 1 JBrowse link 1 186,939,698 187,264,758 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    physical disorder 759
      polydactyly 116
        Desbuquois dysplasia 2
          Desbuquois Dysplasia 1 2
          Desbuquois Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        connective tissue disease 2796
          bone disease 2247
            bone development disease 1008
              osteochondrodysplasia 414
                Desbuquois dysplasia 2
                  Desbuquois Dysplasia 1 2
                  Desbuquois Dysplasia 2 1
paths to the root

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