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Gene: Pbxip1 MGI:2441670

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
pre B cell leukemia transcription factor interacting protein 1
Synonyms:
4732463H20Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pbxip1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pbxip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... OMIM:118651
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr... ORPHA:1856
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... OMIM:249600
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... ORPHA:2831
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... OMIM:609324
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Irregular verteb... OMIM:618395
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis... ORPHA:2249
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... ORPHA:1040
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Irregula... OMIM:616716
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Shox-Related Short Stature
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm und... ORPHA:314795
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... OMIM:212780
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... ORPHA:3104
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa... OMIM:609325
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... ORPHA:93328
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Atelosteogenesis Type Iii
Micrognathia, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne... ORPHA:2557
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... OMIM:602471
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Omodysplasia 2
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e... OMIM:164745
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... ORPHA:2256
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m... ORPHA:99642
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal sacrum morphology, Coxa vara, Abnormal fibula morphology, Abn... ORPHA:1988
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth OMIM:218650
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc... ORPHA:750
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Abnormally ossified vertebrae, Lumba... ORPHA:94068
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Avascular necrosis of... OMIM:132400
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... ORPHA:1837
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer... ORPHA:56304
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb OMIM:179270
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... OMIM:619135
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ... OMIM:100800
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... ORPHA:1836
Kuskokwim Syndrome
Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral bodies, Aplasia/Hypopl... ORPHA:1149
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Epiphyseal stippling, Abnormal pelvic girdle bone morpho... OMIM:222765
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... ORPHA:958
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... OMIM:271630
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology... ORPHA:166011
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Clinodactyly, Micrognathia ORPHA:357175
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... ORPHA:2616
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... OMIM:201170
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Foot oligodactyly, Amelia OMIM:601357
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cle... OMIM:620076
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Clinodactyly, Micrognathia OMIM:615162
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... OMIM:164900
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... OMIM:314390
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow... OMIM:608940
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto... ORPHA:2804
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... ORPHA:246
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... ORPHA:971
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... OMIM:146000
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Dysostosis Multiplex, Ain-Naz Type
Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral... OMIM:619345
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... ORPHA:83468
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... ORPHA:2319
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... OMIM:108721
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... OMIM:607323
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Sho... OMIM:251230
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa... OMIM:256050
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Dysspondyloenchondromatosis
Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Vertebral segmenta... ORPHA:85198
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... ORPHA:93351
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, ... OMIM:143095
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... OMIM:200980
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... OMIM:610797
Tibial Hemimelia
Absent tibia OMIM:275220
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Aase-Smith Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... ORPHA:916
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm... OMIM:263750
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Short neck, Limited knee fle... OMIM:258315
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Abnor... ORPHA:93329
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... OMIM:177170
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Short neck, Flared metap... OMIM:616897
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Melnick-Needles Syndrome
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... OMIM:309350
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... OMIM:600920
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Micromelia, Micrognathia, ... OMIM:613848
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, B... OMIM:619638
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee fl... OMIM:601559
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:52
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered finger, Flatte... ORPHA:157965
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... ORPHA:2741
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Bowing of the long bones, Kyphosis, Lateral femoral bowing OMIM:239000
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ... ORPHA:356961
Panner Disease
Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar... ORPHA:97336
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Distal Duplication 5Q
Hypoplasia of the ulna, Absent thumb, Micrognathia, Hypoplasia of the radius, Brachydactyly ORPHA:96097
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Irregul... OMIM:313400
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia OMIM:218550
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micrognathia, Shor... OMIM:616145
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Adducted thumb, Ulnar ... ORPHA:1147
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em... OMIM:613390
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Auriculoosteodysplasia
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... ORPHA:114
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of... ORPHA:3404
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ankle clonus, Hypoplasia of the ulna, Scoliosis OMIM:615398
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... OMIM:210710
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Occipital Horn Syndrome
Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis, G... OMIM:304150
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited... OMIM:218600
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver... ORPHA:1427
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... ORPHA:392
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Abn... ORPHA:2496
Seckel Syndrome 1
11 pairs of ribs, Ivory epiphyses, Pes planus, Sandal gap, Abnormal finger flexion crease, Single... OMIM:210600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert... ORPHA:93315
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly OMIM:619479
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... OMIM:151210
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal femu... ORPHA:3130
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth OMIM:613630
Fanconi Anemia, Complementation Group W
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb OMIM:617784
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlord... ORPHA:2839
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... OMIM:156550
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... OMIM:206920
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly ORPHA:508542
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... ORPHA:3138
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormality of the lower limb, Hypoplasia of the r... ORPHA:245
Radio-Renal Syndrome
Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma... ORPHA:3015
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Short thumb, A... ORPHA:2909
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor... OMIM:307800
Hyperparathyroidism, Transient Neonatal
Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs, Fractured rib OMIM:618188
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Short neck, Preaxial polydactyly, Hypoplastic pubic bone, Fi... OMIM:617925
Radial-Renal Syndrome
Absent radius, Absent thumb OMIM:179280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae, Tibial bowing, Hypoplas... ORPHA:96334
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... OMIM:609053
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse... OMIM:117650
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln... ORPHA:84
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral compression fracture, Th... OMIM:616507
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Occipital Horn Syndrome
Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Aplastic clavic... ORPHA:198
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Micrognathia, Aplas... OMIM:268300
Fanconi Anemia, Complementation Group P
Short thumb, Hypoplasia of the radius, Absent thumb, Micrognathia OMIM:613951
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Micrognathia, Short neck, Talipes equinovarus, Broad distal pha... OMIM:300990
Osteogenesis Imperfecta, Type Viii
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, S... OMIM:610915
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... OMIM:210720
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... OMIM:609465
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... OMIM:231070
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Short neck, S... OMIM:264090
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla... OMIM:311900
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor... ORPHA:508488
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... ORPHA:233
Alagille Syndrome 1
Hypoplasia of the ulna, Hemivertebrae, Butterfly vertebral arch, Short distal phalanx of finger OMIM:118450
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Camptodactyly of finger, Irregular sclerotic endplates, Kyp... ORPHA:3455
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab... ORPHA:3412
Fanconi Anemia, Complementation Group F
Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly OMIM:603467
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:300554
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... ORPHA:352540
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, Abnormal form of the v... ORPHA:2769
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Abnor... ORPHA:1708
Charge Syndrome
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... OMIM:214800
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Elbow dislocation, Short... ORPHA:90652
Diamond-Blackfan Anemia 1
11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ... OMIM:105650
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p... ORPHA:2886
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Short nec... OMIM:122470
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... OMIM:192350
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnormal finger mo... ORPHA:2636
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius ORPHA:140952
Kinsship Syndrome
Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Coxa valga, Short neck,... OMIM:619297
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... OMIM:259770
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Cervical C2/C3 verte... ORPHA:444077
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Thoracolumbar kyphosis, Osteopathia str... OMIM:300373
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Micrognathia, Absent... ORPHA:2363
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pbxip1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pbxip1.

No publications found that use IMPC mice or data for Pbxip1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pbxip1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pbxip1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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