Phenotype: abnormal joint morphology

Definition any structural anomaly of the moveable articulation point of two or more bones

Synonyms joint dysplasia
Related
Synonyms
  • fused metatarsal bones
  • fused metatarsal bones
  • absent costovertebral joint
  • absent costovertebral joint
  • synovial hyperemia
  • Interphalangeal joint contracture of finger
  • Block vertebrae
  • abnormal metopic suture morphology
  • Synostosis of joints
  • Stiff interphalangeal joints
  • Synostosis of metacarpals/metatarsals
  • Synostosis involving the elbow
  • Enlarged metacarpophalangeal joints
  • Finger symphalangism
  • Sacralization of the fifth lumbar vertebra
  • Posterior fusion of lumbosacral vertebrae
  • Abnormal vertebral segmentation and fusion
  • abnormal intermaxillary suture morphology
  • fused synovial joints
  • abnormal palatomaxillary suture morphology
  • cervical vertebral fusion
  • Block vertebrae
  • Metacarpal synostosis
  • sacral vertebral fusion
  • Anterior vertebral fusion
  • Contracture of the proximal interphalangeal joint of the 4th toe
  • abnormal internasal suture morphology
  • vertebral fusion
  • abnormal mandibular fossa morphology
  • Interphalangeal joint erosions
  • abnormal dentoalveolar joint morphology
  • Hypermobility of interphalangeal joints
  • fused phalanges
  • accelerated temporomandibular joint osteoarthritis
  • Anterior vertebral fusion
  • abnormal maxillary-premaxillary suture morphology
  • abnormal acromioclavicular joint morphology
  • Camptodactyly of toe
  • Prominent interphalangeal joints
  • absent temporomandibular joint
  • absent joint capsule
  • fused metacarpal bones
  • Joint swelling
  • Contracture of the distal interphalangeal joint of the 4th toe
  • Widely patent fontanelles and sutures
  • asymmetric rib joints
  • Posterior fusion of lumbosacral vertebrae
  • Synostosis involving the fibula
  • hemarthrosis
  • Block vertebrae
  • Synovial hypertrophy
  • Distal symphalangism
  • Fused lumbar vertebrae
  • wide coronal suture
  • Vertebral fusion
  • fusion of vertebral arches
  • Enlarged metacarpophalangeal joints
  • abnormal sphenosquamosal suture morphology
  • wide sagittal suture
  • Proximal symphalangism
  • fused metatarsal bones
  • Synostosis involving bones of the feet
  • Abnormal vertebral segmentation and fusion
  • Abnormal vertebral segmentation and fusion
  • Reduced proximal interphalangeal joint space
  • wide sagittal suture
  • fusion of vertebral arches
  • Contractures of the proximal interphalangeal joint of the 5th toe
  • Tarsal synostosis
  • abnormal costovertebral joint morphology
  • joint swelling
  • asymmetric costovertebral joints
  • Bouchard's node
  • sacral vertebral fusion
  • Synostosis involving digits
  • Enlarged interphalangeal joints
  • Fused thoracic vertebrae
  • fused metacarpal bones
  • fusion of vertebral arches
  • fusion of vertebral bodies
  • Anterior vertebral fusion
  • absent temporomandibular joint disk
  • Scapulohumeral synostosis
  • Metatarsal synostosis
  • Synostosis involving bones of the hand
  • Fusion of middle ear ossicles
  • sacral vertebral fusion
  • Fused thoracic vertebrae
  • wide cranial sutures
  • Fused lumbar vertebrae
  • thoracic vertebral fusion
  • Synostosis involving bones of the toes
  • abnormal craniofacial suture morphology
  • asymmetric sternocostal joints
  • Enlargement of the costochondral junction
  • Joint hemorrhage
  • Synostosis involving bones of the hand
  • Fused lumbar vertebrae
  • abnormal zygomaticomaxillary suture morphology
  • Narrow small joints of the hand
  • Synostosis of metacarpals/metatarsals
  • caudal vertebral fusion
  • cervical vertebral fusion
  • vertebral fusion
  • Limited interphalangeal movement
  • Contracture of the distal interphalangeal joint of the 3rd toe
  • wide lambdoid suture
  • abnormal coronal suture morphology
  • caudal vertebral fusion
  • Wide radioulnar joints
  • Synostosis involving the elbow
  • wide coronal suture
  • fused phalanges
  • wide metopic suture
  • thoracic vertebral fusion
  • Fused cervical vertebrae
  • Scapulohumeral synostosis
  • Anterior vertebral fusion
  • wide cranial sutures
  • Carpal synostosis
  • fusion of vertebral bodies
  • Fused lumbar vertebrae
  • Enlarged interphalangeal joints
  • Abnormality of mandibular symphysis
  • lumbar vertebral fusion
  • Contracture of the distal interphalangeal joint of the 2nd toe
  • abnormal sagittal suture morphology
  • fused synovial joints
  • Carpal synostosis
  • Synostosis involving digits
  • abnormal pubic symphysis morphology
  • Contracture of the interphalangeal joint of the hallux
  • Synostosis of carpals/tarsals
  • abnormal temporomandibular joint morphology
  • Contracture of the proximal interphalangeal joint of the 2nd toe
  • Synostosis involving the tibia
  • abnormal incudomalleolar joint morphology
  • Vertebral fusion
  • Hypermobility of distal interphalangeal joints
  • abnormal sternocostal joint morphology
  • Fusion of midcervical facet joints
  • Fusion of middle ear ossicles
  • Enlarged joints
  • Synostosis involving the tibia
  • caudal vertebral fusion
  • Osteoarthritis of the small joints of the hand
  • Wide cranial sutures
  • Camptodactyly of finger
  • thoracic vertebral fusion
  • Heberden's node
  • Fused thoracic vertebrae
  • Soft tissue swelling of interphalangeal joints
  • abnormal elbow joint morphology
  • Posterior fusion of lumbosacral vertebrae
  • Posterior fusion of lumbosacral vertebrae
  • cranial suture sclerosis
  • Synostosis involving bones of the lower limbs
  • asymmetric costovertebral joints
  • Wide pubic symphysis
  • sacral vertebral fusion
  • wide metopic suture
  • fusion of vertebral bodies
  • fusion of vertebral arches
  • abnormal rib joint
  • Fused cervical vertebrae
  • Synostosis involving bones of the toes
  • Wide cranial sutures
  • Fused cervical vertebrae
  • Fusion of midcervical facet joints
  • Limited mobility of proximal interphalangeal joint
  • Tarsal synostosis
  • thoracic vertebral fusion
  • Subluxation of the proximal interphalangeal joint of the little finger
  • Contractures of the distal interphalangeal joint of the 5th toe
  • absent interphalangeal joint
  • Radioulnar synostosis
  • Distal symphalangism
  • lumbar vertebral fusion
  • Proximal symphalangism
  • Synostosis involving the fibula
  • Median cleft palate
  • fused tarsal bones
  • Metacarpal synostosis
  • abnormal frontonasal suture morphology
  • Abnormality of phalangeal joints of the hand
  • Synostosis involving bones of the upper limbs
  • Subluxation of the small joints of the hand
  • Metatarsal synostosis
  • temporomandibular joint ankylosis
  • caudal vertebral fusion
  • Synostosis involving bones of the upper limbs
  • abnormal costotransverse joint morphology
  • Fused cervical vertebrae
  • fusion of vertebral bodies
  • Synostosis involving bones of the lower limbs
  • Synostosis of carpals/tarsals
  • abnormal nasomaxillary suture morphology
  • Enlarged proximal interphalangeal joints
  • lumbar vertebral fusion
  • calcified joint
  • incudomalleolar fusion
  • abnormal incudostapedial joint morphology
  • Widely patent fontanelles and sutures
  • abnormal interphalangeal joint
  • Swelling of proximal interphalangeal joints
  • Block vertebrae
  • abnormal facial suture morphology
  • Fused thoracic vertebrae
  • Wide pubic symphysis
  • wide lambdoid suture
  • Sacralization of the fifth lumbar vertebra
  • abnormal temporomandibular joint disk morphology
  • incudomalleolar fusion
  • Radioulnar synostosis
  • Contracture of the proximal interphalangeal joint of the 3rd toe
  • fused tarsal bones
  • asymmetric sternocostal joints
  • cervical vertebral fusion
  • Synostosis involving bones of the feet
  • abnormal nasomaxillary suture morphology
  • lumbar vertebral fusion
  • cervical vertebral fusion
  • Finger symphalangism
  • Enlargement of the costochondral junction
  • abnormal lambdoid suture morphology
  • Wormian bones
  • Abnormal vertebral segmentation and fusion
  • fused joints
  • abnormal cranial suture morphology
  • Sacralization of the fifth lumbar vertebra
  • Sacralization of the fifth lumbar vertebra
  • abnormal joint capsule morphology
  • abnormal squamoparietal suture morphology
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MP browserMP:0002932

Phenotype associations stats

1.29% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal joint morphology (53/4096)

0.88% females (36/4074) 1.10% males (45/4086)

Gene variants with abnormal joint morphology

Total number of significant genotype-phenotype associations: 90

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Xbp1
Xbp1tm1a(EUCOMM)Wtsi
HET Female Male postnatal vertebral fusion X-Ray | Fusion of vertebrae ICS | EuroPhenome 3.68E-21
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 6.3E-16
Sik3
Sik3tm1a(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 6.3E-16
Tram2
Tram2tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 6.3E-16
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 7.03E-14
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 7.03E-14
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints TCP | IMPC 9.26E-13
Ttc28
Ttc28tm1b(EUCOMM)Hmgu
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae TCP | IMPC 2.24E-12
Cenpj
Cenpjtm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | MGP 7.22E-12
Slc25a21
Slc25a21tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints WTSI | MGP 7.22E-12
Phex
Phexnot yet available
HOM Male postnatal abnormal joint morphology X-Ray | Joints HMGU | EuroPhenome 5.74E-11
Dnase1l2
Dnase1l2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints KMPC | IMPC 1.2E-10
Pepd
Pepdtm1a(KOMP)Wtsi
HOM Female postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 1.77E-10
Slc29a1
Slc29a1tm2b(NCOM)Mfgc
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae TCP | IMPC 3.43E-10
Cbx5
Cbx5tm1a(EUCOMM)Wtsi
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 3.21E-9
Lhcgr
Lhcgrtm1(KOMP)Vlcg
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Mir141
Mir141tm1(mirKO)Wtsi
HET Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Mir320
Mir320tm1(mirKO)Wtsi
HET Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Tmem63a
Tmem63atm1(KOMP)Vlcg
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes MARC | IMPC 1.92E-8
Cbx5
Cbx5tm1a(EUCOMM)Wtsi
HOM Female Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 7.02E-8
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 2.4E-7
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 2.4E-7
Cenpj
Cenpjtm1a(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | MGP 7.19E-7
Gna11
Gna11tm1b(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 9.74E-7
Il12a
Il12atm1b(EUCOMM)Hmgu
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 1.04E-6
Pdss2
Pdss2tm1b(EUCOMM)Hmgu
HET Male postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 2.42E-6
Dnase1l2
Dnase1l2tm1.1(KOMP)Wtsi
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae MRC Harwell | IMPC 2.58E-6
Ahsa2
Ahsa2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Cdc26
Cdc26tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Chrna1
Chrna1tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Kctd15
Kctd15tm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Nae1
Nae1tm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Ncs1
Ncs1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Pigu
Pigutm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Plekhg3
Plekhg3tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Ptdss1
Ptdss1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Synpo2
Synpo2tm1b(EUCOMM)Wtsi
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Yipf5
Yipf5tm1b(EUCOMM)Hmgu
HET Female Male postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 4.38E-6
Rab19
Rab19tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal joint morphology X-ray | Joints ICS | IMPC 5.5E-6
Aff3
Aff3tm1a(EUCOMM)Wtsi
HOM Female postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 6.44E-6
Asxl1
Asxl1tm1a(EUCOMM)Wtsi
HET Female postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | MGP 1.23E-5
Ppp5c
Ppp5ctm1a(EUCOMM)Wtsi
HOM Female Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | MGP 1.23E-5
Rhobtb3
Rhobtb3tm1a(KOMP)Wtsi
HOM Male postnatal abnormal joint morphology X-ray | Joints WTSI | MGP 1.36E-5
Arpc1b
Arpc1btm1a(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 1.43E-5
Abca4
Abca4tm1a(EUCOMM)Wtsi
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 1.54E-5
Ushbp1
Ushbp1tm1a(EUCOMM)Wtsi
HOM Female postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 1.54E-5
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 1.61E-5
Mapkapk2
Mapkapk2tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal joint morphology X-ray | Joints MRC Harwell | IMPC 1.61E-5
Gbx1
Gbx1
HOM Female postnatal vertebral fusion X-Ray | Fusion of vertebrae ICS | EuroPhenome 1.8E-5
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-Ray | Fusion of vertebrae WTSI | EuroPhenome 3.65E-5
Lyplal1
Lyplal1tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 4.9E-5
Os9
Os9tm1a(EUCOMM)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 4.9E-5
Ppp1r42
Ppp1r42tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 4.9E-5
Sel1l
Sel1ltm1e(KOMP)Wtsi
HET Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 4.9E-5
Setd5
Setd5tm1a(EUCOMM)Wtsi
HET Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 4.9E-5
Wdr37
Wdr37tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | IMPC 4.9E-5
Arpc1b
Arpc1btm1a(EUCOMM)Wtsi
HOM Male postnatal fusion of vertebral arches X-ray | Fusion of processes WTSI | IMPC 4.94E-5
Dscc1
Dscc1tm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | MGP 5.04E-5
Selenon
Selenontm1a(KOMP)Wtsi
HOM Male postnatal vertebral fusion X-ray | Fusion of vertebrae WTSI | MGP 5.04E-5
Chtop
Chtoptm1a(EUCOMM)Wtsi
HET Male postnatal abnormal joint morphology X-ray | Joints WTSI | IMPC 9.97E-5

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Associated Images

  • X-ray: XRay Images Lateral Orientation
    265 Images
  • X-ray: XRay Images Dorso Ventral
    219 Images
  • X-ray: XRay Images Hind Leg and Hip
    8 Images
  • X-ray: XRay Images Forepaw
    8 Images
  • X-ray: XRay Images Skull Lateral Orientation
    2 Images
  • X-ray: XRay Images Skull Dorso Ventral Orientation
    3 Images