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
  • Narrow pelvis bone
  • Narrow pelvis bone
  • Broad ischia
  • Broad ischia
  • abnormal ilium morphology
  • Pelvic bone asymmetry
  • Squared iliac bones
  • small pubis
  • Hypoplastic inferior ilia
  • Broad ischia
  • Hypoplastic ischia
  • Wide pubic symphysis
  • ischium hypoplasia
  • Hypoplastic ilia
  • absent pubis
  • Square pelvis bone
  • Halberd-shaped pelvis
  • Aplastic pubic bones
  • Large pelvis bone
  • abnormal ischium morphology
  • absent ilium
  • Hypoplastic iliac body
  • Squared iliac bones
  • pubis hypoplasia
  • small ischium
  • Hypoplastic iliac wing
  • Hypoplastic pubic bone
  • abnormal pubis morphology
  • abnormal pubic symphysis morphology
  • Pelvic bone exostoses
  • Short iliac bones
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MP browserMP:0004509

Phenotype associations stats

0.39% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal pelvic girdle bone morphology (15/3829)

0.29% females (11/3812) 0.24% males (9/3819)

Gene variants with abnormal pelvic girdle bone morphology

Total number of significant genotype-phenotype associations: 20

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Sik3
Sik3tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 3.18E-13
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 2.69E-10
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis TCP | IMPC 2.83E-8
BC055324
BC055324tm1b(EUCOMM)Hmgu
HET Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 1.14E-7
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 1.23E-7
Ube2g1
Ube2g1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis RBRC | IMPC 2.32E-7
Rnaseh2c
Rnaseh2ctm1(KOMP)Wtsi
HET Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 1.52E-6
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 1.95E-6
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 7.08E-6
Dnase1l2
Dnase1l2tm1b(KOMP)Wtsi
HOM Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis KMPC | IMPC 2.77E-5
Ift80
Ift80tm1a(KOMP)Wtsi
HOM Male postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 3.35E-5
Scnn1b
Scnn1btm1b(EUCOMM)Hmgu
HET Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis MRC Harwell | IMPC 3.69E-5
Cd300lg
Cd300lgtm1a(KOMP)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 6.3E-5
Tnik
Tniktm3a(EUCOMM)Wtsi
HOM Female postnatal abnormal pelvic girdle bone morphology X-ray | Pelvis WTSI | IMPC 6.3E-5

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Associated Images

  • X-ray: XRay Images Dorso Ventral
    76 Images
  • X-ray: XRay Images Lateral Orientation
    4 Images