Phenotype: abnormal pelvic girdle bone morphology

Definition any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton

Synonyms
  • abnormal coxal bones
  • abnormal coxal bones
  • abnormal innominate bones
  • abnormal innominate bones
  • abnormal pelvis bones
  • pelvic girdle bone dysplasia
  • abnormal pelvic bone morphology
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Related
Synonyms
  • Broad ischia
  • Broad ischia
  • Hypoplastic ilia
  • Hypoplastic ilia
  • Short and small iliac bones
  • Small iliac bones
  • Small wings of the pelvic girdle
  • Square iliac bones
  • Squared iliac bones
  • Squaring of iliac bones
  • abnormal iliac bone morphology
  • abnormal ilium morphology
  • abnormal ischium morphology
  • abnormal pubic bone morphology
  • abnormal pubic symphysis morphology
  • abnormal pubis morphology
  • abnormal symphysis pubica
  • abnormal symphysis pubis
  • absent ilium
  • absent pubic bone
  • absent pubis
  • ilium dysplasia
  • small ischium
  • small ischium bone
  • small pubic bone
  • small pubis
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Phenotype associations stats

0.37% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal pelvic girdle bone morphology (13/3495)

0.29% females (10/3480) 0.20% males (7/3488)

Gene variants with abnormal pelvic girdle bone morphology

Total number of significant genotype-phenotype associations: 17

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-Ray | Pelvis WTSI | EuroPhenome 1.23E-10
Ttc28
Ttc28tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis TCP | IMPC 7.41E-10
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis TCP | IMPC 6.71E-8
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 7.44E-8
BC055324
BC055324tm1b(EUCOMM)Hmgu
HET Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 1.32E-7
Ube2g1
Ube2g1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis RBRC | IMPC 2.96E-7
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 1.8E-6
Rnaseh2c
Rnaseh2ctm1(KOMP)Wtsi
HET Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 2.25E-6
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 7.8E-6
Ift80
Ift80tm1a(KOMP)Wtsi
HOM Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 3.76E-5
Scnn1b
Scnn1btm1b(EUCOMM)Hmgu
HET Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 3.83E-5
Cd300lg
Cd300lgtm1a(KOMP)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 8.61E-5
Tnik
Tniktm3a(EUCOMM)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 8.61E-5

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Associated Images

  • X-ray: XRay Images Lateral Orientation
    3 Images
  • X-ray: XRay Images Dorso Ventral
    50 Images