Anna B. Osipovich, et.al., Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic., Proceedings of the National Academy of Sciences of the United States of America, 2008, 105

http://rdf.ncbi.nlm.nih.gov/pubmed/18852472

Anna B. Osipovich, et.al., Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic., Proceedings of the National Academy of Sciences of the United States of America, 2008, 105

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3817312

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal long bone epiphyseal ossification zone morphology_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0006399I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal axial skeleton morphology_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0002114I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• hydronephrosis_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0000519I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• short humerus_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0004351I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal vesicle-mediated transport_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0008546I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• short ribs_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0004672I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal chondrocyte morphology_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0000166I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• short tibia_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0002764I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal long bone hypertrophic chondrocyte zone_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0000165I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• malocclusion_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0000120I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• decreased body weight_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0001262I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal spine curvature_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0004174I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• small cranium_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0005352I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal limb bone morphology_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0002115I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal long bone epiphyseal plate morphology_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0003055I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• ureter obstruction_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0003587I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• disorganized long bone epiphyseal plate_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0006397I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• small vertebrae_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0004610I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• decreased width of hypertrophic chondrocyte zone_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0003409I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• short femur_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0003109I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• abnormal cell morphology_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0000358I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• decreased birth body size_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0009703I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul
• decreased body length_Dym<Gt(GTR1.3)1Rul>/Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/0001258I129SvDymGtGTR131RulDymGtGTR131RulDymGtGTR131Rul

class

http://purl.org/net/cito/citesAsAuthority

• Dym<Gt(GTR1.3)1Rul>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3817312

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD03011
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD03011