Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
troponin T3, skeletal, fast
Synonyms:
fTnT,  skeletal muscle fast-twitch TnT

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 Tnnt3 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.

The table below shows human diseases associated to Tnnt3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tnnt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Severe short stature,... OMIM:250460
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short stature, Postnatal growth ... OMIM:618728
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... ORPHA:2632
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brachydactyly OMIM:611263
Short Stature-Obesity Syndrome
Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Short stature, Micrognathia, Brachydac... OMIM:269870
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Coxa vara, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epiphyses of the elbow, Frag... ORPHA:166002
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Proportionate short stature, Osteoarthritis, Micromelia ORPHA:93283
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... ORPHA:1423
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp... ORPHA:2639
Greenberg Dysplasia
Severe short-limb dwarfism, Abnormal bone ossification, Rhizomelia, Anterior rib punctate calcifi... ORPHA:1426
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Short stature, Dela... OMIM:601561
Laron Syndrome
Severe short stature, Short long bone, Limb undergrowth, Delayed menarche OMIM:262500
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2019
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-limb dwarfism, Abn... ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Limb undergrowth, Bowing of the legs, Short stature, Disproportionate sh... ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Disproportionate short-limb ... ORPHA:93351
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Limb undergrowth, Short stature, Brachydactyly, Micromelia OMIM:122900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short lo... OMIM:608728
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Short stature OMIM:146350
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Hypochondroplasia
Abnormality of femur morphology, Childhood onset short-limb short stature, Joint hyperflexibility... ORPHA:429
Coxoauricular Syndrome
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... ORPHA:1508
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Disproportionate short stature, Delayed epiphyseal ossification, Joint laxi... OMIM:602557
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, Limb undergr... ORPHA:177
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, High iliac wing,... ORPHA:85170
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Thoracomelic Dysplasia
Genu valgum, Disproportionate short-limb short stature, Joint hyperflexibility, Limb undergrowth,... ORPHA:1803
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Severe short st... ORPHA:1240
Kyphomelic Dysplasia
Disproportionate short stature, Bowing of the long bones, Large hands, Flat acetabular roof, Join... ORPHA:1801
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity, Short stature, Ulnar deviation of finger, Abnormality o... ORPHA:2928
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Dispr... OMIM:200700
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Metaphyseal dysplasia, Short long bone, Short stature, Micromelia ORPHA:93316
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Short 5th metacarpal, Aplasia/Hypoplasia of ... ORPHA:1350
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, ... OMIM:300863
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu valgum, Mild short stature, Metaphyseal irregularity, Recurrent fractures, Coxa vara, Hypopl... ORPHA:93315
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Broad hallux phalanx, Hypoplasia of the ulna, Mesomelia, S... ORPHA:2249
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Limited elbow extension, Metaphyseal chondrodysplasia,... OMIM:250230
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Growth delay, Recur... OMIM:600081
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Congestive heart failure OMIM:301021
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cupping, Severe limb shortenin... OMIM:151210
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Generalized osteosclerosis, Short ribs, Flared... OMIM:215045
Acrocapitofemoral Dysplasia
Flared iliac wing, Short palm, Cone-shaped epiphysis, Coxa vara, Genu varum, Short stature, Abnor... ORPHA:63446
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Abnormally shaped carpal bon... OMIM:201250
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, ... ORPHA:231144
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... ORPHA:1836
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelic short stature, Mesomelia, Talipe... OMIM:163400
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Abnormal metacarpal morphology, Bow... ORPHA:2631
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Mesomelic short st... OMIM:184260
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Postnatal growth retardation, Clinodactyly, Small hand, Short foot, Intrauterine grow... ORPHA:254525
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Joint contracture of the hand, Micromelia OMIM:601016
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Joint hyperflexibility, Bowing of the long bones, Joint stiffness... ORPHA:40
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Disproportionate short stature, Broa... OMIM:609616
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short middle phalanx of finger, Hitchhiker thumb, Short greater sciatic no... OMIM:256050
Acromesomelic Dysplasia, Hunter-Thompson Type
Severe short-limb dwarfism, Tarsal synostosis, Abnormally shaped carpal bones, Joint stiffness, H... ORPHA:968
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Mesomelia, ... OMIM:249700
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Short foot, Small hand, Delay... OMIM:180870
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Growth delay, Hypop... OMIM:241530
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Hypo... ORPHA:2634
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormality of epiphysis ... ORPHA:628
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Hyperphosphatasia With Mental Retardation Syndrome 6
Shortening of all distal phalanges of the fingers, Hip dysplasia, Growth delay, 2-3 toe syndactyl... OMIM:616809
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Rhizomelia, Mesomelia, Small for gestational age, Osteopenia OMIM:616229
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Image Syndrome
Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia ORPHA:85173
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Abnormal thumb morphology, Abnormality of epiphysis morphology, Rhizo... ORPHA:1842
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Synostosis of joints, Re... ORPHA:321
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Subperiosteal bone resorption, Metaphyseal irregularity, Sparse bone trabecula... OMIM:264700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Decreased liver function, Rhabdomyolysis, Myoglobinuria OMIM:602199
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Joint hyperflexibility, Sandal gap, Obesity, Short stature, Arachnodactyly, Micromelia ORPHA:1035
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Subperiosteal bone resorption, Metaphyseal irregularity, Sparse bone trabecula... OMIM:277440
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Disproportionate short stature, Short... ORPHA:1427
Odontochondrodysplasia
Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, Cone-shaped epiphysis, Shor... ORPHA:166272
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Disproportionate short stature, Wide a... ORPHA:15
Fanconi Renotubular Syndrome 3
Rickets, Growth delay, Bowing of the legs, Short stature OMIM:615605
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Rhizomelia, Short finger, Hypoplastic inferior ilia, Metaphyseal cuppin... OMIM:608940
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Shortening of all phalanges of fingers, Mesomelia, Limb undergrowth, Shor... OMIM:601356
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Rhizomelia, Abnormality of the radius, Mesomelia, Sh... ORPHA:93329
Hypocalcemic Vitamin D-Resistant Rickets
Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Os... ORPHA:93160
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Postnatal growth retardation, Clinodactyly, Small hand, Short foot, Intraute... ORPHA:254531
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Delayed epiphyseal ossification, Rickets, Postnatal growth retarda... ORPHA:289157
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Severe short stature, O... ORPHA:2176
Ollier Disease
Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffness, Abnormalit... ORPHA:296
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Short ribs, Limb undergrowth, Coarse metaphyseal trabecularization, Short lo... OMIM:618961
Spondyloepimetaphyseal Dysplasia, Shohat Type
Disproportionate short stature, Generalized bone demineralization, Joint laxity, Metaphyseal irre... ORPHA:93352
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Hip dislocation, Short stature, Short tibia, Fibular aplasia OMIM:605274
Acrocephalopolydactyly
Short long bone, Brachydactyly, Limb undergrowth ORPHA:221054
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Short stature, Osteomalacia OMIM:193100
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of tibia morphology, Abnormality of femur morphology, Synostosis of carp... ORPHA:2496
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Small han... ORPHA:93324
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Achondrogenesis Type 1B
Disproportionate short stature, Abnormal enchondral ossification, Severe short stature, Short foo... ORPHA:93298
Achondrogenesis Type 1A
Abnormal enchondral ossification, Recurrent fractures, Severe short stature, Short foot, Microgna... ORPHA:93299
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Short stature, Intrauterine growth retardation, ... ORPHA:2145
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, ... ORPHA:85166
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Intrauterine growt... ORPHA:2772
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Chondrodysplasia-Disorder Of Sex Development Syndrome
Short phalanx of finger, Increased skull ossification, Broad long bones, Severe short stature, Sh... ORPHA:1422
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Hypoplastic scapulae, Short ribs, Abno... OMIM:200600
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Postnatal growth retardation, Shor... OMIM:618150
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Recurrent fractures... OMIM:300009
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Short humerus, Short stature, Aplasia/Hypoplasia of the u... ORPHA:2491
Hall-Riggs Syndrome
Abnormality of epiphysis morphology, Limb undergrowth, Joint stiffness, Failure to thrive, Short ... ORPHA:2107
Achondrogenesis, Type Ib
Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal short-limb ... OMIM:600972
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Limb undergrowth, Severe intrauterine growth retardation, Short stature, Abnormali... ORPHA:319675
Hypertrichosis Cubiti
Rhizomelia, Joint hyperflexibility, Severe short stature, Micromelia ORPHA:2220
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Adducted thumb, S... OMIM:616897
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Achondrogenesis
Abnormal enchondral ossification, Severe short stature, Abnormality of bone mineral density, Micr... ORPHA:932
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay, Failure to thrive OMIM:602722
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Bowing of the... ORPHA:157215
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation, Short thumb OMIM:609054
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Recurrent fractures, Limb undergrowth, Tibial bowing, Small for gestational a... ORPHA:453510
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Postnatal growth retardation, Slender finger, Long toe, Small for gestational age, Talipes equino... OMIM:613355
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydactyly, Metaphys... ORPHA:440354
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Osteoporosis, Rickets, Joint hyperflexibility, Severe short stature, Avascular nec... ORPHA:1901
Distal Monosomy 17Q
Abnormal thumb morphology, Abnormality of the metacarpal bones, Small hand, Aplasia/Hypoplasia of... ORPHA:1597
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Growth delay, Bowing of the legs, Osteomalacia ORPHA:89937
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Micrognathia, Postnatal growth retardation, Severe intrauterine growth retardation,... ORPHA:73272
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Bowing of the long bones, Broad long bones, Adducted thumb, Short ribs, Severe sho... OMIM:224400
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Postnatal growth retardation, Clinodactyly, Small hand, Small for gestationa... ORPHA:96184
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Joint hyperflexib... ORPHA:2655
C Syndrome
Dislocated radial head, Fused sternal ossification centers, Postaxial hand polydactyly, Toe synda... OMIM:211750
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Abno... ORPHA:3429
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Mesomelic short stature, Aplasia/Hypoplasia of the radius, Short stature, Intraute... ORPHA:1765
Three M Syndrome 1
Joint hypermobility, Hypoplastic pelvis, Growth delay, Postnatal growth retardation, Short ribs, ... OMIM:273750
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Postnatal growth retardation OMIM:179800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndactyly, Microgna... OMIM:617866
Ruvalcaba Syndrome
Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Cone-shaped epiphysis,... ORPHA:3121
Hypophosphatasia, Infantile
Craniosynostosis, Decreased calvarial ossification, Metaphyseal cupping, Short ribs, Bowing of th... OMIM:241500
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypoplastic pubic b... ORPHA:1865
Acrodysostosis
Hypoplasia of the radius, Short toe, Short metatarsal, Epiphyseal stippling, Abnormality of the r... ORPHA:950
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Wide anterior fontanel, Joint laxity, Limb undergrowth, Short stature, S... OMIM:225410
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Rhizomelia, Short finger, Irregular epiphyses, Mesomelia, Metaphyseal ... OMIM:612813
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Sandal gap, Syndactyly, Short stature, Brachydactyly, Micromelia OMIM:614800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Metaphyseal cupping, Short ribs, Hypoplastic ischia, Iliac crest serration, ... OMIM:613320
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Disproportionate short stature,... OMIM:602875
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Growth delay, Hypophosphatemic rickets, En... ORPHA:289176
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Disproportionate sho... OMIM:260660
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, L... OMIM:210720
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia, Short stature OMIM:613388
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormality of the metaphysis, Short stature, Limb undergrowth ORPHA:1861
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... OMIM:215140
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Postnatal growth retardation, Iliac cres... OMIM:223800
4Q21 Microdeletion Syndrome
Toe syndactyly, Growth delay, Small hand, Short foot, Intrauterine growth retardation, Short palm... ORPHA:238750
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Short stature OMIM:611590
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Disproportionate short-limb short stature, Delayed epiphyseal ossification, Short phal... OMIM:611717
Desbuquois Dysplasia 2
Metaphyseal widening, Broad thumb, Short phalanx of finger, Joint laxity, Short metacarpal, Postn... OMIM:615777
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Intr... OMIM:251230
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Flexion contracture, Limb undergrowth, Failure to thrive, Short stature, Intrauterine growth reta... OMIM:618005
Fibrous Dysplasia Of Bone
Cortical irregularity, Abnormality of tibia morphology, Abnormality of femur morphology, Osteolys... ORPHA:249
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Retinal telangiectasia, Congenital diaphragmatic hernia, Telangiectasia of the skin ORPHA:438134
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Rhizomelia, Broad metatarsal, Hypopl... OMIM:166250
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Mesomelia, Short distal phalanx of finger, Partial duplication of the phalanx of han... OMIM:616331
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Mesomelia, Clinodactyly, Short stature, Micrognathia, Brachydactyly OMIM:618529
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Sponastrime Dysplasia
Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened humeral epiphyses, Ivory epiph... ORPHA:93357
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Short femur, Abnormal sacroiliac joint morphology, Wide anteri... ORPHA:1860
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
3M Syndrome
Rocker bottom foot, Congenital hip dislocation, Hypoplastic pelvis, Joint hyperflexibility, Hypop... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Joint laxity, Rhizomelia, Mesomelia, Brachydactyly ORPHA:171866
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, Mesomelia, Sh... OMIM:614091
Kyphomelic Dysplasia
Radial bowing, Short femur, Disproportionate short stature, Ulnar bowing, Dumbbell-shaped humerus... OMIM:211350
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Broad thumb, Abnormality of epiphysis morphology, Short distal phalanx o... ORPHA:1784
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Blomstrand Lethal Chondrodysplasia
Abnormality of epiphysis morphology, Synostosis of joints, Rhizomelia, Bowing of the long bones, ... ORPHA:50945
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Short stature OMIM:134600
Thanatophoric Dysplasia Type 2
Joint hyperflexibility, Short stature, Abnormality of the metaphysis, Brachydactyly, Limitation o... ORPHA:93274
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndactyly, Mesomelia, Scleros... OMIM:618162
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Postnatal gro... ORPHA:73230
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short ribs, Hip dislocation, Micrognathia, Micromelia OMIM:241800
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Small for gestational age, Limb undergrowth ORPHA:79243
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Genu valgum, Limited elbow extension, Finger joint hypermobility, Joint laxity, Microretrognathia... OMIM:618870
Nivelon-Nivelon-Mabille Syndrome
Micromelia, Short phalanx of finger, Severe short stature, Short metacarpal OMIM:600092
Fanconi-Bickel Syndrome
Rickets, Growth delay, Bowing of the long bones, Failure to thrive, Osteopenia ORPHA:2088
Denys-Drash Syndrome
Focal segmental glomerulosclerosis, Nephropathy, Hypertension, Nephrotic syndrome, Nephroblastoma... OMIM:194080
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Aplastic cl... ORPHA:2636
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Congenital diaphragmatic h... ORPHA:1166
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Short stature OMIM:616026
Cartilage-Hair Hypoplasia
Abnormality of the metaphysis, Disproportionate short-limb short stature, Limited elbow extension... ORPHA:175
Stüve-Wiedemann Syndrome
Metaphyseal widening, Genu valgum, Camptodactyly of finger, Osteoporosis, Flexion contracture of ... ORPHA:3206
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Postnata... OMIM:304120
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp... ORPHA:3258
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Failure to thrive OMIM:560000
Pyknoachondrogenesis
Aplastic pubic bones, Short iliac bones, Poorly ossified vertebrae, Craniofacial hyperostosis, Ab... ORPHA:3003
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Elbow flexion contracture, Micrognathia, Femoral bowing, Short femur, Enlarged metaphyses, Flexio... OMIM:210710
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Triangular sha... OMIM:271665
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Serkal Syndrome
Renal agenesis, Hypoplasia of the bladder, Abnormal penis morphology, Pulmonic stenosis, Congenit... ORPHA:139466
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Advanced tarsal ossification, Hypoplastic scapulae, Hy... ORPHA:3144
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Abnormality of epiphysis morphology, Joint hyperflexibility, Narr... ORPHA:2637
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Occipital Horn Syndrome
Large iliac wing, Abnormality of fibula morphology, Aplastic clavicle, Hip dysplasia, Genu valgum... ORPHA:198
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Hypertension, Abnormality ... ORPHA:2260
Mesomelia-Synostoses Syndrome
Microretrognathia, Metacarpal synostosis, Mesomelic short stature, Mesomelia, Partial fusion of p... OMIM:600383
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormality of epiphysis morphology, Bowing of the long b... ORPHA:1798
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Short ribs, Syndactyly, Brachy... OMIM:617895
Hypophosphatemic Rickets
Disproportionate short stature, Rickets, Bowing of the long bones, Craniofacial osteosclerosis, E... ORPHA:437
Slc39A8-Cdg
Cutaneous syndactyly of toes, Craniosynostosis, Limb undergrowth, Failure to thrive in infancy, S... ORPHA:468699
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Fibrochondrogenesis
Camptodactyly of finger, Wide anterior fontanel, Hypoplastic scapulae, Short ribs, Abnormal diaph... ORPHA:2021
Osteogenesis Imperfecta, Type X
Genu valgum, Joint laxity, Generalized joint laxity, Bowing of the long bones, Short stature, Ost... OMIM:613848
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Mesomelia, Aplasia/Hypoplasia of the thumb, Short stature, Intrauterine growth... ORPHA:1908
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Large hands, Oste... ORPHA:2671
Cystinosis
Rickets, Delayed puberty, Failure to thrive, Short stature ORPHA:213
Gm1 Gangliosidosis
Camptodactyly of finger, Abnormality of epiphysis morphology, Limb undergrowth, Weight loss, Coar... ORPHA:354
Cardioacrofacial Dysplasia 1
Genu valgum, Postaxial polydactyly, Limb undergrowth OMIM:619142
Dent Disease
Bulging epiphyses, Metaphyseal irregularity, Enlarged epiphyses, Rickets, Recurrent fractures, Os... ORPHA:1652
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Postnatal growth retardation, Delayed puberty, Failure to thr... OMIM:212750
Cardioacrofacial Dysplasia 2
Genu valgum, Postaxial hand polydactyly, Limb undergrowth, Postaxial foot polydactyly, Clubbing, ... OMIM:619143
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Acetabular dysplasia, Limit... ORPHA:508533
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Wide anterior fontanel, Rhizomelia, Mesomelia, Severe short stature OMIM:616482
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Micromelia ORPHA:79107
Roberts Syndrome
Craniosynostosis, Postnatal growth retardation, Sandal gap, Wrist flexion contracture, Phocomelia... ORPHA:3103
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Osteogenesis Imperfecta, Type Vii
Protrusio acetabuli, Wide anterior fontanel, Rhizomelia, Decreased calvarial ossification, Recurr... OMIM:610682
Schisis Association
Small for gestational age, Micromelia ORPHA:63862
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Short stature OMIM:612089
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Geleophysic Dysplasia 3
Limb undergrowth, Short stature, Short foot, Brachydactyly, Epiphyseal dysplasia OMIM:617809
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Short ribs OMIM:273730
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Limited elbow extension, Metaphyseal irregularity, Delayed ossification of carpal bo... OMIM:271510
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Growth delay, Weight loss, Osteomalacia ORPHA:309031
Spondyloenchondrodysplasia
Hypoplastic ilia, Limb undergrowth, Short distal phalanx of finger, Metaphyseal dysplasia, Dispro... ORPHA:1855
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Adducted thumb, Failure to thrive, Micromelia ORPHA:50810
Desmosterolosis
Growth delay, Osteopetrosis, Severe short stature, Increased bone mineral density, Metatarsus add... ORPHA:35107
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Postnatal growth retardation, Metatars... ORPHA:96334
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Micromelia OMIM:610015
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive OMIM:607765
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Joint laxity, Rickets, Growth delay, Reduced bone mineral density, Failure to thri... OMIM:613658
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Intra... ORPHA:2470
Becker Nevus Syndrome
Abnormality of tibia morphology, Spina bifida occulta, Micromelia ORPHA:64755
Short Stature, Microcephaly, And Endocrine Dysfunction
Limb undergrowth, Clinodactyly, Truncal obesity, Short stature, Intrauterine growth retardation, ... OMIM:616541
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Clubbing of toes, Brachydactyly, Micromelia ORPHA:1318
Kagami-Ogata Syndrome
Flexion contracture, Limb undergrowth, Micrognathia, Coxa valga, Long fingers OMIM:608149
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Joint stiffness, Wrist flexio... ORPHA:800
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Wide anterior fontanel, Broad toe, ... OMIM:268310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Fanconi-Bickel Syndrome
Osteomalacia, Failure to thrive OMIM:227810
Osteogenesis Imperfecta
Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphology, Small ... ORPHA:666
Distal Renal Tubular Acidosis
Rickets, Growth delay, Reduced bone mineral density, Osteomalacia, Increased susceptibility to fr... ORPHA:18
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormality of the gallbladder, Congenital diaphragmatic hernia, In... ORPHA:2075
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short finger, Limb undergrowth, Short foot, Short ribs, Short long bone, Bo... OMIM:269860
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Aneurysmal bone cyst, Osteomalacia, Polyosto... ORPHA:562
Visceral Steatosis, Congenital
Abnormal bleeding, Myocardial steatosis, Hepatic steatosis, Renal steatosis, Jaundice, Neonatal d... OMIM:228100
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormal localization of kidney, Re... ORPHA:1834
Ellis Van Creveld Syndrome
Genu valgum, Hand polydactyly, Synostosis of carpal bones, Short distal phalanx of finger, Capita... ORPHA:289
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Spina bifida occulta, Short foot, Osteopenia, Thickened c... ORPHA:488434
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Urethral diverticulum, Congenital diaphragmatic hernia, Displacem... ORPHA:95706
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Bartsocas-Papas Syndrome 1
Oligodactyly, Arthrogryposis multiplex congenita, Short phalanx of finger, Ulnar bowing, Hypoplas... OMIM:263650
Vacterl/Vater Association
Renal agenesis, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic kidney, Abnorma... ORPHA:887
Wilson Disease
Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short sternum, Mesomelia, Sho... ORPHA:3404
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Palpitations, Mitral stenosis, Congenital diaphragmatic hernia ORPHA:2847
Mosaic Trisomy 9
Rocker bottom foot, Camptodactyly of finger, Finger clinodactyly, Intrauterine growth retardation... ORPHA:99776
Lowe Oculocerebrorenal Syndrome
Genu valgum, Camptodactyly of finger, Joint hypermobility, Rickets, Finger swelling, Osteomalacia... OMIM:309000
Raine Syndrome
Arthrogryposis multiplex congenita, Bowing of the long bones, Increased bone mineral density, Lon... OMIM:259775
Radio-Renal Syndrome
Hypoplasia of the radius, Severe short stature, Micrognathia, Brachydactyly, Short palm, Micromelia ORPHA:3015
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Hyperechogenic kidneys, Horseshoe kidney, Decreased numbers of nephrons, Bifid ur... OMIM:617641
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Congenital diaphragmatic hernia ORPHA:1120
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Broad toe, 2-3 toe syndactyly, Limb undergrowth, Broad finger, Clinodactyly, 11 pai... ORPHA:488632
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Flexion contracture, Hypertension, Aortic valve stenosis, ... OMIM:208050
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Limb undergrowth, Small for gestational age, Short stature, Failure to thrive, I... ORPHA:99843
Endocrine-Cerebroosteodysplasia
Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Syndactyly, Micrognathia, B... OMIM:612651
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Congenital diaphragmatic hernia, Hypospadias, Intrauterine growth reta... OMIM:611812
Cystinosis, Nephropathic
Genu valgum, Rickets, Growth delay, Hypophosphatemic rickets, Failure to thrive in infancy, Delay... OMIM:219800
Cornelia De Lange Syndrome 1
Dislocated radial head, Hypoplasia of the radius, Limited elbow extension, Hypoplastic radial hea... OMIM:122470
Kinsship Syndrome
Dislocated radial head, Polydactyly, Mesomelia, Fibular hypoplasia, Short stature, Failure to thr... OMIM:619297
Microphthalmia, Syndromic 9
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Diaphragmatic eventration, Pulmonic stenos... OMIM:601186
Neu-Laxova Syndrome 1
Rocker bottom foot, Toe syndactyly, Finger syndactyly, Camptodactyly, Limb undergrowth, Radial de... OMIM:256520
Hydrolethalus
Postaxial hand polydactyly, Micrognathia, Micromelia ORPHA:2189
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Talipes equinovarus, Flexion contracture, Limb undergrowth OMIM:619124
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Smith-Lemli-Opitz Syndrome
Short toe, Postaxial hand polydactyly, Hip subluxation, Epiphyseal stippling, Overlapping toe, Gr... OMIM:270400
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Short phalanx of finger, Camptodactyly, Mesomelia, Clinodactyly, Syndactyly, Short s... OMIM:616894
Robinow Syndrome
Mesomelic arm shortening, Mesomelia, Fused thoracic vertebrae, Short distal phalanx of finger, Sy... ORPHA:97360
Cutis Laxa, Autosomal Recessive, Type Ia
Supravalvular aortic stenosis, Bladder diverticulum, Congenital diaphragmatic hernia OMIM:219100
Primary Fanconi Renotubular Syndrome
Growth delay, Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fr... ORPHA:3337
Infantile Nephropathic Cystinosis
Rickets, Growth delay, Failure to thrive ORPHA:411629
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Abnormality of epiphysis morphology, Joint hyperflexibility, Recurrent fractures, De... ORPHA:534
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Cervical C5/C6 v... ORPHA:87
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Aplastic clavicle, Micromelia OMIM:616546
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Intrauterine growth retardation, Flexion contracture, Death in childhood, Congenital diaphragmati... OMIM:618651
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Broad thumb, Wide anterior fontanel, Broad toe, Rhizomelia, Mesomeli... OMIM:180700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Craniosynostosis, Joint laxity, Polydactyly, Rhizomelia, Mesomelia, S... OMIM:613610
Pentalogy Of Cantrell
Renal agenesis, Renal dysplasia, Congenital diaphragmatic hernia, Hypospadias, Absent gallbladder ORPHA:1335
Autosomal Dominant Robinow Syndrome
Hip dysplasia, Camptodactyly of finger, Finger syndactyly, Micrognathia, Severe short stature, Av... ORPHA:3107
Cornelia De Lange Syndrome
Oligodactyly, Hip dysplasia, Toe syndactyly, Radioulnar synostosis, Short 1st metacarpal, Short f... ORPHA:199
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndacty... ORPHA:1507
Smith-Lemli-Opitz Syndrome
Postaxial hand polydactyly, Finger syndactyly, Rhizomelia, Split hand, 2-3 toe syndactyly, Growth... ORPHA:818
Perlman Syndrome
Nephroblastomatosis, Nephrogenic rest, Hypoplasia of the abdominal wall musculature, Renal hamart... OMIM:267000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Postaxial hand polydactyly, Micromelia OMIM:200995
Pagod Syndrome
Arrhythmia, Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Congenital diap... ORPHA:991
C Syndrome
Dislocated radial head, Hand polydactyly, Toe syndactyly, Failure to thrive in infancy, Clinodact... ORPHA:1308
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Abnormal hip bone morphology, J... ORPHA:1146
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Postaxial hand polydactyly, Preaxial hand polydactyly, Disproportionate short-limb short stature,... ORPHA:93271
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Chordee, Congenital diaphragmatic hernia, Hypospadias, Micropenis, Histiocytoid cardi... OMIM:309801
Thoracoabdominal Syndrome
Hypospadias, Renal agenesis, Congenital diaphragmatic hernia OMIM:313850
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Congenital diaphragmatic he... OMIM:613630
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Multiple renal cysts, Enlarged kidney, Congenital megaureter, Neph... ORPHA:116
Meacham Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Aortic valve stenosis, Congenital diaphragmatic he... ORPHA:3097
Generalized Arterial Calcification Of Infancy
Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of the carpal bon... ORPHA:51608
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
8Q24.3 Microdeletion Syndrome
Short hallux, Rocker bottom foot, Hip dysplasia, Short femur, Congenital hip dislocation, Joint l... ORPHA:508488
Peters Plus Syndrome
Toe syndactyly, Rhizomelia, Short foot, Postnatal growth retardation, Clinodactyly of the 5th fin... ORPHA:709
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth, Hydronephrosis, Intrauterine growth retardation, Hypospadias OMIM:236680
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Biliary atresia, Ureteral duplication, Glycosuria, Pulmonic st... OMIM:600001
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Adducted thumb, Sandal gap, Brachydactyly, Metatarsus adductu... OMIM:618435
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Sheldon-Hall Syndrome
Overlapping fingers, Tarsal synostosis, Micrognathia, Aplasia/Hypoplasia of the radius, Abnormal ... ORPHA:1147

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 Tnnt3

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 Tnnt3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice. Genesis (New York, N.Y. : 2000) (July 2013) Tnnt3tm2a(KOMP)Wtsi PMC3787964

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tnnt3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tnnt3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnnt3tm44902(L1L2_gt2) Targeting vectors

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