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Gene: Tnnt3 MGI:109550

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Tnnt3 (3 diseases)
Human diseases predicted to be associated with Tnnt3 (366 diseases)

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

Disease	Matching phenotypes	Source
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Ulnar deviation of finger, Abnormal...	ORPHA:1146
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Short toe, Adducted thumb, Hip dis...	OMIM:618435
Sheldon-Hall Syndrome	Short stature, Tarsal synostosis, Micrognathia, Joint stiffness, Ulnar deviation of finger, Aplas...	ORPHA:1147

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

Disease	Matching phenotypes	Source
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Lethal Congenital Contracture Syndrome 3	Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co...	OMIM:611369
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Pseudoachondroplasia	Irregular acetabular roof, Limited hip extension, Distal joint laxity, Metaphyseal widening, Dela...	ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Abnormality of radial e...	ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Mesomeli...	ORPHA:2632
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Thin bony cortex, Bulging epiphyses, Rickets of the lower limbs, Delaye...	OMIM:600785
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm	ORPHA:168555
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature, Micromelia	ORPHA:93283
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A...	ORPHA:2639
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L...	ORPHA:156728
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn...	ORPHA:93351
Laron Syndrome	Limb undergrowth, Delayed menarche, Severe short stature, Short long bone	OMIM:262500
Hypophosphatemic Bone Disease	Rickets, Short stature, Osteomalacia, Bowing of the legs	OMIM:146350
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,...	OMIM:614326
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo...	ORPHA:429
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno...	ORPHA:177
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Short stature, Glenoid fossa hypoplasia, Hip d...	ORPHA:85170
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, D...	OMIM:620265
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp...	ORPHA:1803
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure, Intrauterine growth retardation	OMIM:301021
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A...	ORPHA:2928
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Joint stiffness, Disproportiona...	ORPHA:1801
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Severe short stature, Bowing of the long bones, ...	ORPHA:1240
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ...	ORPHA:2249
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyse...	OMIM:300863
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia	ORPHA:1277
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi...	ORPHA:2741
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt...	ORPHA:231144
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Micromelia, Co...	ORPHA:63446
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo...	OMIM:619897
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph...	ORPHA:2631
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widening, Osteoporosis, C...	OMIM:184260
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join...	ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Disproportionate short stature, Joint hyperflexibility...	ORPHA:40
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short...	OMIM:616809
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st...	OMIM:249700
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar...	OMIM:163400
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesity, Short foot, Intraute...	ORPHA:254525
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f...	ORPHA:1836
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro...	OMIM:609616
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f...	ORPHA:2633
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmon...	OMIM:619751
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Limited elbow extension, Short metatarsal, Small han...	OMIM:180870
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet...	OMIM:256050
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr...	ORPHA:2634
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Bulging epiphyses, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300554
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss...	OMIM:166210
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa va...	OMIM:602557
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Achondroplasia	Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Wide a...	ORPHA:15
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Short sta...	OMIM:616229
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly...	ORPHA:474
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Rhabdomyolysis, Decreased liver function	OMIM:602199
Odontochondrodysplasia	Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Intrauterine growth ...	ORPHA:254531
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Cli...	OMIM:608747
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo...	ORPHA:168549
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Image Syndrome	Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia	ORPHA:85173
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Craniosyn...	ORPHA:93329
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Small for gestational age, Micromelia, Iliac crest serration, Postnatal growth ret...	OMIM:613320
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening...	OMIM:608940
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Bowing of the legs, Metaphyseal widening, Disproportionate sh...	ORPHA:93352
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Brachydactyly	ORPHA:221054
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ...	ORPHA:289157
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Short stature, Micromelia, Obesity, Genu valgum, Joint hyperflexibility	ORPHA:1035
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum,...	ORPHA:93160
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fr...	ORPHA:2176
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Mesomelic Dysplasia, Savarirayan Type	Short stature, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets	OMIM:193100
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro...	ORPHA:93324
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars...	OMIM:617102
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormally ossified vertebrae, Sandal gap, Abnormal pelvi...	ORPHA:1427
Mesomelia-Synostoses Syndrome	Brachydactyly, Short stature, Micromelia, Micrognathia, Abnormality of the humerus, Joint stiffne...	ORPHA:2496
Fanconi Renotubular Syndrome 3	Growth delay, Short stature, Rickets, Bowing of the legs	OMIM:615605
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased calvarial ossification, Dispro...	ORPHA:2772
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Abnormal carpal morphology, Obesity, Severe postnatal growth retardation, Hip dysp...	ORPHA:319675
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Death in childhood, Neonatal death, Increased variability in muscl...	OMIM:619334
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Intraut...	ORPHA:2145
Achondrogenesis Type 1B	Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat...	ORPHA:93298
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Severe short stature, Broad long bones, Micromelia, Increased skull ossificatio...	ORPHA:1422
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit...	OMIM:164900
Hall-Riggs Syndrome	Short stature, Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphy...	ORPHA:2107
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Achondrogenesis Type 1A	Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifica...	ORPHA:93299
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypopla...	ORPHA:2491
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Severe short stature, Broad long bones, Micromelia, Micrognathia, Metap...	OMIM:224400
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ...	OMIM:269250
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal...	OMIM:600972
Dent Disease 1	Thin bony cortex, Bulging epiphyses, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300009
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Failure to thrive, Rickets	OMIM:602722
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem...	ORPHA:1901
Hypertrichosis Cubiti	Joint hyperflexibility, Severe short stature, Rhizomelia, Micromelia	ORPHA:2220
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Short stature, Osteomalacia, Bowing of the legs, Reduced bone mineral density, Growth delay, Hypo...	ORPHA:157215
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb	OMIM:609054
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Achondrogenesis	Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Abnormality of ...	ORPHA:932
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Mesomelic short stature, Aplasia/Hypoplas...	ORPHA:1765
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split...	OMIM:171480
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic...	ORPHA:1865
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ...	OMIM:211750
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Abnormal thumb morphology, Small hand...	ORPHA:1597
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy...	ORPHA:2655
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Cone-shaped...	ORPHA:3121
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro...	OMIM:612813
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate shor...	OMIM:602875
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Short stature, Shoulder fl...	OMIM:255800
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibility to fractures, Decrease...	OMIM:241500
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Short stature, Rickets	OMIM:211600
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow...	OMIM:108720
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Short stature	ORPHA:1861
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Short stature, Sandal gap, Prominent delt...	OMIM:619636
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals, Pseudoarthr...	OMIM:166250
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe ki...	OMIM:613630
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hip dislocation, Limb undergrowth, Intrauterine growth retardation, Jo...	OMIM:618005
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Short stature, Rickets	OMIM:611590
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Growth delay, Short foot, Short palm, Intrauterine growth...	ORPHA:238750
Pallister-Hall-Like Syndrome	Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat...	OMIM:241800
Microphthalmia, Syndromic 12	Neonatal death, Congenital diaphragmatic hernia	OMIM:615524
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia	ORPHA:438134
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Elevated...	OMIM:620300
Pelviscapular Dysplasia	Short femur, Short stature, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, H...	ORPHA:93333
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Thin bony cortex, Short stature, Abn...	ORPHA:249
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Hypoplastic iliac wing, Limitation of joint mobility, Disproportion...	OMIM:313400
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Overweight, Generalized o...	ORPHA:763
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Miss...	OMIM:251230
3M Syndrome	Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Rocker bottom foot, Micromelia...	ORPHA:2616
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Intrauterine growth retardation, Flexion contracture, Small for gestational age	ORPHA:79243
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Short stature, Monkey wrench femoral neck, Micromelia, 2-3 toe s...	OMIM:618870
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Short stature, Bowing of the long bones, Microme...	OMIM:614091
Sponastrime Dysplasia	Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Generalized joint lax...	ORPHA:93357
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Wide anterio...	OMIM:225410
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphy...	ORPHA:93274
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal p...	ORPHA:1784
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Abnormal ...	ORPHA:2879
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of...	ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa...	OMIM:271510
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ...	ORPHA:175
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Recurre...	ORPHA:3206
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Clinodactyly of the...	ORPHA:2636
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets, Growth delay, Failure to thrive	ORPHA:2088
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,...	OMIM:618162
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Abn...	ORPHA:2260
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Failure to thrive, T...	OMIM:230600
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Abnormal epi...	ORPHA:1798
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t...	ORPHA:79322
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe...	OMIM:224410
Cystinosis	Failure to thrive, Short stature, Rickets, Delayed puberty	ORPHA:213
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Disproportionate short stature, Coxa vara, Joint hyperflexibility, Truncal obesity, N...	ORPHA:2637
Celiac Disease, Susceptibility To, 1	Short stature, Postnatal growth retardation, Rickets, Osteoporosis, Weight loss, Delayed puberty,...	OMIM:212750
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Gm1 Gangliosidosis	Short stature, Camptodactyly of finger, Joint stiffness, Weight loss, Abnormal diaphysis morpholo...	ORPHA:354
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Short foot, ...	OMIM:617809
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Micrognathia, Meso...	ORPHA:1908
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Failure to thrive, Rickets	ORPHA:79303
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia...	ORPHA:139466
Developmental Malformations-Deafness-Dystonia Syndrome	Femoral retroversion, Short stature, Micromelia, Hypoplastic scapulae	ORPHA:79107
Slc39A8-Cdg	Osteopenia, Short stature, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contract...	ORPHA:468699
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Short stature, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clino...	OMIM:618529
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anterior fontanel,...	ORPHA:2021
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Fanconi Renotubular Syndrome 1	Short stature, Osteomalacia, Rickets	OMIM:134600
Dent Disease	Enlarged epiphyses, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowin...	ORPHA:1652
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Short stature, Micromelia, Sandal gap, Postnatal growth retardation, Br...	OMIM:614800
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Short stature, Rickets	OMIM:616026
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Short stature, Micromelia, Bowing of the legs, Femor...	OMIM:610682
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Desmosterolosis	Increased bone mineral density, Severe short stature, Micromelia, Micrognathia, Metatarsus adduct...	ORPHA:35107
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Schisis Association	Small for gestational age, Micromelia	ORPHA:63862
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Short stature, Micrognathia, Partial duplication of thumb phalanx, Partial duplica...	OMIM:616331
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Disproportionate shor...	ORPHA:1855
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay	ORPHA:309031
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Rickets	OMIM:607765
Glutamine Deficiency, Congenital	Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Recurrent fractures, Rickets	OMIM:268315
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Failure to thrive, Micromelia, Adducted thumb	ORPHA:50810
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly	OMIM:600092
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Short toe, Short foot, Short long bo...	OMIM:269860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi...	ORPHA:96334
Fanconi-Bickel Syndrome	Postnatal growth retardation, Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Truncal obesity, Disproportionate short-limb short stature, Limb undergrowth, Intr...	OMIM:616541
Kagami-Ogata Syndrome	Coxa valga, Micrognathia, Long fingers, Flexion contracture, Limb undergrowth	OMIM:608149
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Short stature, Rickets	OMIM:612089
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A...	ORPHA:800
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Intra...	ORPHA:2470
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri...	ORPHA:666
Orofaciodigital Syndrome Type 2	Finger syndactyly, Short stature, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first ...	ORPHA:2751
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short stature, Tibial ...	OMIM:616482
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna...	OMIM:263650
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol...	ORPHA:562
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retarda...	OMIM:309000
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Ventral shortening of foreskin, Urethral diverticulum, Displacem...	ORPHA:95706
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Rickets, Increased susceptibility to fractures, Growth delay, Reduce...	ORPHA:18
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f...	ORPHA:488434
Ellis Van Creveld Syndrome	Failure to thrive, Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone m...	ORPHA:289
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Short stature, Small for gestational age, Rickets, Reduced bone mineral...	OMIM:613658
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormality of the ga...	ORPHA:2075
Microphthalmia, Syndromic 9	Renal malrotation, Diaphragmatic eventration, Congenital diaphragmatic hernia, Renal hypoplasia, ...	OMIM:601186
Kinsship Syndrome	Osteopenia, Short stature, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydac...	OMIM:619297
Radio-Renal Syndrome	Severe short stature, Micromelia, Micrognathia, Hypoplasia of the radius, Short palm, Brachydactyly	ORPHA:3015
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi...	OMIM:612651
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Short stature, Toe syndactyly, Mesoaxial hand polydactyly...	OMIM:146510
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Limitation of joint mobili...	ORPHA:99776
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Short stature, Small for gestational age, Limb undergrowth, Intrauterine growth ...	ORPHA:99843
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Humeroradial synosto...	ORPHA:3404
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Micrognathia...	OMIM:259775
Pericardial And Diaphragmatic Defect	Mitral stenosis, Aplasia of the left hemidiaphragm, Palpitations, Congenital diaphragmatic hernia	ORPHA:2847
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Osteoporosis, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Cl...	ORPHA:488632
Cornelia De Lange Syndrome 1	Short stature, Micromelia, Micrognathia, Proximal placement of thumb, Hypoplasia of the radius, E...	OMIM:122470
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax...	ORPHA:2753
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Limb undergrowth, Flexion contracture, Talipes equinovarus	OMIM:619124
Cystinosis, Nephropathic	Short stature, Failure to thrive in infancy, Metaphyseal widening, Rickets, Genu valgum, Growth d...	OMIM:219800
Chromosome 14Q11-Q22 Deletion Syndrome	Proportionate short stature, Micrognathia, Growth delay, Mesomelia, Failure to thrive, Hip sublux...	OMIM:613457
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Intraute...	OMIM:611812
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Short stature, Micrognathia, Mesomelia, Clinodactyly, Short phalanx of finger, Broad ...	OMIM:616894
Infantile Nephropathic Cystinosis	Growth delay, Failure to thrive, Rickets	ORPHA:411629
Oculocerebrorenal Syndrome Of Lowe	Short stature, Osteomalacia, Recurrent fractures, Micrognathia, Joint stiffness, Hip dislocation,...	ORPHA:534
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Short stature, Micr...	OMIM:180700
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Small for gestational age, Mi...	ORPHA:97360
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly...	ORPHA:1507
8Q24.3 Microdeletion Syndrome	Microretrognathia, Long toe, Infancy onset short-trunk short stature, Short femur, Short stature,...	ORPHA:508488
Primary Fanconi Renotubular Syndrome	Osteomalacia, Weight loss, Growth delay, Increased susceptibility to fractures, Hypophosphatemic ...	ORPHA:3337
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca...	OMIM:256520
Cornelia De Lange Syndrome	Toe syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Micrognathia, Proximal pl...	ORPHA:199
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Smith-Lemli-Opitz Syndrome	Microretrognathia, Short stature, Overlapping toe, Micromelia, Micrognathia, Metatarsus adductus,...	OMIM:270400
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Short stature, Proximal placement of thumb, Micrognathia, Postaxia...	ORPHA:818
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Severe short stature, Short stature, Camptodactyly of finger, Micromelia, Micr...	ORPHA:3107
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Postaxial ha...	OMIM:613610
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Micromelia	OMIM:200995
Wilson Disease	Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility	OMIM:277900
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
C Syndrome	Toe syndactyly, Short stature, Failure to thrive in infancy, Micromelia, Micrognathia, Limitation...	ORPHA:1308
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Ulnar deviation of finger, Abnormal...	ORPHA:1146
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, C...	ORPHA:991
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelvis ...	ORPHA:93271
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Short stature, Micromelia, Micrognathia, Postnatal growth retardation...	ORPHA:709
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Renal agenesis, Hypospadias	OMIM:313850
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Failure to thrive in infancy, Osteomalacia, Stippled ca...	ORPHA:51608
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Congenital diaphragmatic hernia, Biliary atresia, Aplas...	OMIM:600001
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia	ORPHA:1675
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Osteomalacia, Weight loss	OMIM:619381
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Short toe, Adducted thumb, Hip dis...	OMIM:618435
Hydrolethalus Syndrome 1	Hypospadias, Stillbirth, Intrauterine growth retardation, Agenesis of the diaphragm, Hydronephrosis	OMIM:236680
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Sheldon-Hall Syndrome	Short stature, Tarsal synostosis, Micrognathia, Joint stiffness, Ulnar deviation of finger, Aplas...	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)	Tnnt3^{tm2a(KOMP)Wtsi}	PMC3787964

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tnnt3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Tnnt3^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tnnt3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tnnt3^{tm44902(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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