Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
signal peptide, CUB domain, EGF-like 2
Synonyms:
ICRFP703N2430Q5.1,  4932442O19Rik,  Cegf1,  ICRFP703B1614Q5.1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Scube2 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 Scube2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... OMIM:619598
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Joint stiffness, Avascu... OMIM:132400
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... OMIM:607078
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia ... ORPHA:1972
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... ORPHA:2204
Osebold-Remondini Syndrome
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Small for gestational age, Reduced bone mineral density, Delayed ossification of c... OMIM:618392
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Wide capital femoral epiph... OMIM:147891
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... OMIM:265900
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral o... ORPHA:2635
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... OMIM:619795
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... ORPHA:166016
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... OMIM:300554
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... OMIM:156230
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:241530
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Short stature, Met... ORPHA:356961
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Short stature, Small for gestational age, Slender long bones... ORPHA:50811
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... ORPHA:1525
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Decreased skull ossification, Joint hyperf... ORPHA:2097
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... OMIM:602080
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... ORPHA:157965
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... OMIM:249700
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... OMIM:613848
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Bowing of the long bones, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Ck Syndrome
Micrognathia, Abnormal digit morphology, Abnormal cortical bone morphology, Slender build, Joint ... OMIM:300831
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... OMIM:619638
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Short Stature, Brussels Type
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of... ORPHA:2867
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... OMIM:620076
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... ORPHA:1486
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... OMIM:612447
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... ORPHA:289157
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic ... ORPHA:1988
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... OMIM:300009
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Short stature, Polydactyly OMIM:300484
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Short stature, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular h... OMIM:201170
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Short stature, Small for gestational age, Genu valgum, Slender lon... OMIM:608154
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Short stature, Hypoplasia of the femoral head, Flat capit... OMIM:226900
Mesomelic Dysplasia, Savarirayan Type
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... OMIM:605274
Stuve-Wiedemann Syndrome 1
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... ORPHA:56304
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri... ORPHA:1860
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Short stature, Hypoplastic scapulae, Hypoplastic ilia, H... ORPHA:93333
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Short tibia, Humeroradial synostosis, ... OMIM:251230
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Childhood-onset short-trunk short stature, Precocious costochondral ossi... OMIM:271630
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Short stature, Generalized joint laxity, Patellar hypoplasia, Short femoral... OMIM:609325
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Hip... ORPHA:2484
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Limited hip extension, Short femur, Bowing of the legs,... OMIM:100800
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... OMIM:615066
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... OMIM:251450
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... OMIM:618188
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femo... ORPHA:93356
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri... OMIM:307800
Proteus Syndrome
Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Facial hyperostosi... OMIM:176920
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... OMIM:147750
Orofaciodigital Syndrome Ix
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... OMIM:617952
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip... OMIM:156550
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Eiken Syndrome
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... OMIM:600002
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo... ORPHA:168549
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... OMIM:258860
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint morphology, Genu ... ORPHA:1159
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Hypoplasia of the ... OMIM:607143
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... OMIM:171480
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
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Short ... ORPHA:221016
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Short ... ORPHA:221008
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Plantar hyperkeratosis, ... ORPHA:2909
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... ORPHA:988
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu... OMIM:617925
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation,... OMIM:618395
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing OMIM:126550
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... OMIM:166210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... ORPHA:3035
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... OMIM:277170
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Wide anterior fontanel, Growth delay, Decreased body weight, Abnormal cortical bon... OMIM:614886
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... ORPHA:96334
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Osteopetrosis, Autosomal Recessive 7
Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Short stature, Recurrent fractures, Camptodactyly of finger... ORPHA:3206
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... ORPHA:86822
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... ORPHA:1652
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Bowing of the long bones, Short stature, Ost... ORPHA:249
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Short stature, Bowing of the legs OMIM:146350
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... OMIM:602557
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... ORPHA:2634
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral bo... OMIM:602111
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Re... ORPHA:140
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Knee osteoarthritis, Osteoporosis, Bone cyst, Coxa vara, Short femoral n... ORPHA:2848
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Short stature, Overlapping toe, Craniosyno... OMIM:616723
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum, Growth delay, Overgrowth, Joint hypermobility OMIM:617798
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... ORPHA:2796
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Hip d... ORPHA:85170
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Rhyns Syndrome
Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac... OMIM:602152
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Failure to thrive, T... OMIM:230600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... ORPHA:2769
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnormal bone oss... ORPHA:93315
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Sandal gap, Postnatal growth retardation, Capitate-hamate fusi... OMIM:206920
Shox-Related Short Stature
Short stature, Micrognathia, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth... ORPHA:314795
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Spondyloocular Syndrome
Osteopenia, Long toe, Pes planus, Arachnodactyly, Short stature, Femur fracture, Overlapping toe,... OMIM:605822
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retard... OMIM:616145
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor... ORPHA:2658
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... OMIM:119800
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... OMIM:227270
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spin... ORPHA:508488
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... OMIM:164900
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
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Weill-Marchesani Syndrome 1
Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, Broad phalanges of... OMIM:277600
Orofaciodigital Syndrome Type 2
Finger syndactyly, Short stature, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first ... ORPHA:2751
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Frank-Ter Haar Syndrome
Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio... OMIM:249420
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O... OMIM:231070
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Short stature, C... ORPHA:2839
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fra... OMIM:166220
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Talipes equinovarus, Broad distal ... OMIM:300990
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... OMIM:618150
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Micrognathia, Slender long bone, Polydactyly, Hypoplastic ... OMIM:612731
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly, Failure to thrive ORPHA:17
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Tall stature, Short stature, Recurrent fractures, Long f... OMIM:309583
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Severe short stature, Short stature, Small for gestational age, T... OMIM:127000
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... ORPHA:666
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Fibrochondrogenesis 1
Short palm, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Wide a... OMIM:228520
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Weill-Marchesani Syndrome 2
Short metacarpal, Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, ... OMIM:608328
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Short stature, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Scl... OMIM:619727
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Failure to thrive, Camptodactyly of fin... ORPHA:90652
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap... OMIM:208500
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... OMIM:300106
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Long toe, Short humerus, Short femur, Short stature, Camptodactyly of finger, Hypopla... ORPHA:3455
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... OMIM:164745
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... ORPHA:488434
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Propor... OMIM:210600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Short stature, Small for gestational age, Long foot, Microg... OMIM:264090
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Paranasal sinus hypoplasia, Short stature, Arachnodactyly, Micrognathia, Crani... OMIM:300373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho... OMIM:143095
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Tapered finger OMIM:618367
Kinsship Syndrome
Osteopenia, Pes planus, Short stature, Coxa valga, Micrognathia, Hip dislocation, Fibular hypopla... OMIM:619297
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... ORPHA:2879
Cranioectodermal Dysplasia 1
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... OMIM:218330
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Short stature, Small for gestational age, Rickets, Reduced bone mineral... OMIM:613658
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased sus... OMIM:259770
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Tibial Hemimelia
Absent tibia OMIM:275220
Boomerang Dysplasia
Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Orofaciodigital Syndrome Type 4
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... ORPHA:2753
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Sh... OMIM:134780
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Aspartylglucosaminuria
Pes planus, Abnormal morphology of ulna, Joint stiffness, Arthritis, Abnormal cortical bone morph... ORPHA:93
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Humeroradial synosto... ORPHA:3404
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi... ORPHA:444077
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Postnatal growth retardation, Absen... OMIM:214800

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 Scube2

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 Scube2.

No publications found that use IMPC mice or data for Scube2.

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