Phenotype: abnormal radius morphology

Definition any structural anomaly of the short bone of the lateral forearm

Synonyms radius dysplasia
Related
Synonyms
  • Bilateral absence of radius
  • Bilateral absence of radius
  • Bilateral radial aplasia
  • Bilateral radial aplasia
  • Hypoplasia of proximal radius
  • Proximal radial shortening
  • Unilateral radial aplasia
  • absence of radius
  • absent radius
  • decreased diameter of radius
  • decreased outer diameter of radius
  • decreased periosteal diameter of radius
  • decreased redius length
  • fused radius and ulna
  • fusion of radius and ulna
  • increased diameter of radius
  • increased outer diameter of radius
  • increased periosteal diameter of radius
  • increased radius length
  • long radius
  • radius and ulna fusion
  • radius hypoplasia
  • reduced diameter of radius
  • reduced outer diameter of radius
  • reduced periosteal diameter of radius
  • short radius
  • thick radius
  • thin radius
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Phenotype associations stats

0.21% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal radius morphology (8/3757)

0.13% females (5/3736) 0.21% males (8/3751)

Gene variants with abnormal radius morphology

Total number of significant genotype-phenotype associations: 13

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal radius morphology X-ray | Radius WTSI | IMPC 1.29E-16
Ltbp1
Ltbp1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal radius morphology X-ray | Radius WTSI | EuroPhenome 1.77E-12
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal radius morphology X-ray | Radius TCP | IMPC 2.35E-12
Phex
Phexnot yet available
HOM Male postnatal abnormal radius morphology X-Ray | Radius HMGU | EuroPhenome 5.74E-11
Kctd10
Kctd10Gt(RRG305)Byg
HET Female Male postnatal abnormal radius morphology X-Ray | Radius WTSI | EuroPhenome 1.44E-8
Tram2
Tram2tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal radius morphology X-ray | Radius WTSI | IMPC 2.69E-8
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal radius morphology X-ray | Radius MRC Harwell | IMPC 8.22E-8
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal radius morphology X-ray | Radius MRC Harwell | IMPC 8.22E-8

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