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: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION DESBUQUOIS DYSPLASIA, KIM VARIANT
 primary_id: MESH:C535943
 alt_id: RDO:0001318
 xref: GARD:1818;   OMIM:PS251450;   ORDO:1425
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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 14823
    physical disorder 742
      polydactyly 116
        Desbuquois dysplasia 2
          Desbuquois Dysplasia 1 2
          Desbuquois Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                Desbuquois dysplasia 2
                  Desbuquois Dysplasia 1 2
                  Desbuquois Dysplasia 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.