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Gene: Acp5 MGI:87883

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

acid phosphatase 5, tartrate resistant

Synonyms:

TRAP, TRACP

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 Acp5 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 Acp5 (2 diseases)
Human diseases predicted to be associated with Acp5 (656 diseases)

The table below shows human diseases associated to Acp5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spondyloenchondrodysplasia		Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ...	ORPHA:1855
Spondyloenchondrodysplasia With Immune Dysregulation		Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler...	OMIM:607944

The table below shows human diseases predicted to be associated to Acp5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of...	ORPHA:2790
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	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
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor...	ORPHA:40
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon...	ORPHA:163649
Epiphyseal Dysplasia, Multiple, 6	Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarthritis, Schmorl's node, Ir...	OMIM:614135
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Hyperlordosis, Micrognathia, Facial hyperostosis, High iliac wing...	ORPHA:2780
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Metaphyseal widening, Craniofac...	OMIM:618476
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros...	OMIM:132400
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ...	ORPHA:166002
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Sc...	ORPHA:177
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Mesomelia, Vertebral segmentation defect, Abno...	ORPHA:2631
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Restricted large joint movement, Platyspondyly, Bilateral coxa valga, Abnormal vertebral morpholo...	ORPHA:163665
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnor...	ORPHA:1803
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteopor...	OMIM:184260
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Joint stiffness, Missing ribs, Micrognathia, Limitation of ...	ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs	ORPHA:156728
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron...	OMIM:614078
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar...	OMIM:602557
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Dysspondyloenchondromatosis	Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu valgum...	ORPHA:85198
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f...	OMIM:609324
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Abnormal verteb...	ORPHA:166024
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b...	ORPHA:93346
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Dense calvaria, Hemiatrophy	ORPHA:306741
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de...	OMIM:265900
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa...	OMIM:608940
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Hyperlordosis, ...	ORPHA:1798
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb...	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c...	OMIM:307800
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, ...	OMIM:156550
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Short neck, Brachydactyly	ORPHA:221054
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ...	ORPHA:166272
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda...	OMIM:616809
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebral wedging, Pla...	OMIM:616583
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho...	OMIM:102370
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,...	ORPHA:2639
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Limitation of joint mobility, Symphalangism affecting the ph...	ORPHA:2741
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn...	ORPHA:970
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Kyphoscoliosis, Coxa valga, Hyperlordosis, Micrognathia, Adva...	OMIM:618363
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent...	OMIM:616229
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Advanced ossification of carpal bones, Short long bone, Small epiphyses...	OMIM:620269
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Monosomy 5P	Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperfle...	ORPHA:281
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly o...	ORPHA:2633
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Abnorm...	ORPHA:94068
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic girdle bone morpho...	OMIM:123000
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,...	ORPHA:577
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen...	ORPHA:89936
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomelia, Aplastic ...	ORPHA:50945
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Small hand, Short metatarsal, Sh...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver...	OMIM:301014
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the h...	ORPHA:166011
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Decreased circulating total IgM, Osteopetros...	OMIM:612301
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly	ORPHA:1277
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met...	OMIM:619638
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Abno...	OMIM:610967
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Scoliosis, Short long bone, Camptodactyly	OMIM:619751
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ...	OMIM:259720
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal...	OMIM:613320
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Wide anterior font...	ORPHA:3098
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H...	ORPHA:93315
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Desmosterolosis	Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Osteopetrosis	ORPHA:35107
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Leri Pleonosteosis	Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Abnormally straight spine, ...	ORPHA:2900
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Decreased ...	OMIM:271510
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Hyperlordosis, Micrognathia, Generalize...	ORPHA:763
Hall-Riggs Syndrome	Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor...	ORPHA:2107
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:264700
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture...	OMIM:215150
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo...	OMIM:131300
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Ab...	ORPHA:667
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid...	OMIM:224400
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Abnormal fe...	ORPHA:1842
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ...	OMIM:250420
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Achondrogenesis, Type Ib	Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Micromelia	OMIM:600972
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Anisospondyly, Fl...	ORPHA:1865
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp...	ORPHA:324964
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi...	OMIM:611717
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K...	ORPHA:93316
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal form of the...	ORPHA:1486
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal...	OMIM:108720
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Broad metacarpa...	ORPHA:56304
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H...	ORPHA:2249
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture...	OMIM:616897
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Achondrogenesis Type 1A	Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Shor...	ORPHA:93299
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint ...	ORPHA:1901
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal fi...	ORPHA:3035
Kuskokwim Syndrome	Joint stiffness, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral bodies, Aplasi...	ORPHA:1149
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Short nec...	OMIM:108721
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Achondrogenesis Type 1B	Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Short foot, Talipes equin...	ORPHA:93298
Mycetoma	Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Abnormal for...	ORPHA:2583
Geroderma Osteodysplastica	Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteoporosis, Abnormal form of...	ORPHA:2078
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto...	ORPHA:90652
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, C...	ORPHA:3121
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ...	OMIM:613848
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Micrognathia, Abnorm...	ORPHA:93329
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormal form of the vertebral...	ORPHA:263463
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density	ORPHA:3352
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Joint hypermobility, Thoracolumbar kyphoscoliosis,...	OMIM:618853
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of bone mineral density	ORPHA:3156
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
3M Syndrome	Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Short neck, H...	ORPHA:2616
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,...	OMIM:269300
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Abnormal form...	ORPHA:1597
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, Hyperlordosis, 2-3 toe s...	OMIM:618870
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t...	OMIM:271665
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Shox-Related Short Stature	Short neck, Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb...	ORPHA:314795
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi...	ORPHA:249
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortenin...	ORPHA:163654
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler...	ORPHA:2905
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm...	ORPHA:93274
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Short neck, Micrognathia, Wide anterior fontanel, Metaphyseal wideni...	OMIM:263210
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Tibial bowing, Congenital b...	ORPHA:453510
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Thoracolumbar kyphosis, Coxa valga, Hypoplastic vertebral bodies, Platyspondyly,...	OMIM:230600
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Monkey wrench femoral...	OMIM:615777
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Micromel...	ORPHA:2176
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone minera...	ORPHA:800
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Sheldon-Hall Syndrome	Tarsal synostosis, Joint stiffness, Short neck, Micrognathia, Ulnar deviation of finger, Aplasia/...	ORPHA:1147
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Joint stiffness, Abnormality of the humerus, Micrognathia, Abnormal ti...	ORPHA:2496
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphyses, Short ne...	ORPHA:94089
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Joint hypermobility, Tapered finger, Hyperlordosis, Hypop...	OMIM:616007
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility	ORPHA:1035
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bowing of...	OMIM:610682
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,...	ORPHA:582
Osteoglosphonic Dysplasia	Rhizomelia, Craniosynostosis, Micrognathia, Abnormal form of the vertebral bodies, Scoliosis, Abn...	ORPHA:2645
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,...	OMIM:618162
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist...	ORPHA:73230
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia	ORPHA:1237
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Microg...	ORPHA:2756
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo...	ORPHA:488434
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Micromelia, Short neck, Micrognathia, S...	OMIM:259775
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi...	OMIM:127000
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Larsen Syndrome	Finger syndactyly, Craniosynostosis, Accessory carpal bones, Joint hyperflexibility, Vertebral se...	ORPHA:503
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of...	ORPHA:3258
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck, Short metat...	ORPHA:79444
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Scoliosis, Micrognathia	ORPHA:94063
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint mobility, Arthritis,...	ORPHA:1416
Achondrogenesis	Micrognathia, Abnormality of bone mineral density, Micromelia, Abnormal enchondral ossification	ORPHA:932
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab...	ORPHA:2021
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ...	OMIM:616507
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma...	ORPHA:35687
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma...	ORPHA:64754
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Recurrent fractures...	ORPHA:3206
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o...	ORPHA:93324
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Anisosp...	OMIM:224410
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Craniosynostosis, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In...	OMIM:610968
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck, Broad 1st m...	ORPHA:79443
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor...	ORPHA:2050
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta	ORPHA:64755
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Hammertoe, Rad...	ORPHA:2319
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Micromelia, Short neck, Humeroradial synostosis, M...	OMIM:251230
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Abnormal form of the vertebral...	ORPHA:354
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Rhizomelia, Broad femoral neck, Short neck, Kyphoscoliosis, Micro...	OMIM:611209
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm...	ORPHA:2636
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Spinal canal stenosis, Short foot	ORPHA:2323
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b...	ORPHA:221016
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Increased circu...	ORPHA:77259
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept...	OMIM:166200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Stuve-Wiedemann Syndrome 1	Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, S...	OMIM:601559
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Joint contracture	OMIM:618005
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella...	ORPHA:221008
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Xylt1-Cdg	Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles...	ORPHA:370930
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th...	ORPHA:2909
Kenny-Caffey Syndrome, Type 1	Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossification, Calvarial os...	OMIM:244460
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Limb undergrowth, Shor...	OMIM:225410
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna	ORPHA:2491
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis	ORPHA:902
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ...	OMIM:206920
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx,...	OMIM:616331
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ...	OMIM:619184
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ...	OMIM:302960
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Short palm	OMIM:241410
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia	ORPHA:2772
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b...	ORPHA:56305
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Micrognathia, Femoral bowing, Short long bone, Talipe...	OMIM:617022
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur...	OMIM:620232
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, Abnormal epiphysis morphology,...	ORPHA:2637
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ...	ORPHA:1855
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Hypertrichosis Cubiti	Joint hyperflexibility, Rhizomelia, Micromelia	ORPHA:2220
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult...	ORPHA:1826
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi...	ORPHA:2879
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul...	OMIM:610442
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax...	ORPHA:435638
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l...	OMIM:231050
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,...	ORPHA:263508
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me...	OMIM:250250
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Kagami-Ogata Syndrome	Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Limb undergrowth	OMIM:608149
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly	ORPHA:3004
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol...	ORPHA:562
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Hip dysplasia, Limb undergrowth, Lumbar scoliosis, Clinodactyly of th...	ORPHA:319675
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga...	ORPHA:1328
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Vacterl Association With Hydrocephalus	Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Absent thumb	OMIM:276950
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler...	OMIM:607944
Pallister-Hall-Like Syndrome	Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ...	OMIM:241800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Wide anterior fontanel, Kyphosis, Tibial bowing, Femoral bowing...	OMIM:616482
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Abnormal cartilage matrix	OMIM:245650
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures, Micrognathia	ORPHA:2785
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio...	OMIM:600920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Lumbar hyperlordosis, Broad hallux, Short neck, Micrognathia, Generalized joint laxit...	ORPHA:251028
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy...	OMIM:269150
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Micrognathia, Osteoporosis, Tibial bowing, Short foot, Slende...	OMIM:601812
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Short 5th finger, Scoliosis, Acromesomelia, Tracheobronchomalacia	ORPHA:500159
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Micrognathia, Limitat...	ORPHA:79474
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial...	OMIM:304120
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co...	OMIM:309350
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Glutamine Deficiency, Congenital	Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Short neck, Osteoporosis, 2-3 toe syndactyly, Broad finger, Scoliosi...	ORPHA:488632
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Kinsship Syndrome	Osteopenia, Sacral dimple, Coxa valga, Short neck, Micrognathia, Hip dislocation, Fibular hypopla...	OMIM:619297
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage	ORPHA:169805
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short foot, Short long bone, Sho...	OMIM:269860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Hypoplastic iliac wi...	ORPHA:96334
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal...	OMIM:619727
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Alg12-Cdg	Sandal gap, Proximal placement of thumb, Abnormal circulating IgA level, Partial absence of speci...	ORPHA:79324
Dyschondrosteosis-Nephritis Syndrome	Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia	ORPHA:1765
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Kyphosis, Hip dislocation, Rickets, Genu valgum, Finger sw...	OMIM:309000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogrypos...	OMIM:602398
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Short neck, Micromelia, Adducted thumb	ORPHA:50810
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Radio-Renal Syndrome	Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal form of the vertebral bo...	ORPHA:3015
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Brachydactyly	OMIM:614800
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Mesomelia, Scoliosis, Camptodactyl...	OMIM:616894
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Micromelia, Short neck, Micrognathia, Limitation of ...	ORPHA:99776
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Limited knee flexion, Microgna...	OMIM:258315
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Sacral dimple, Shor...	OMIM:180700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly...	ORPHA:1507
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture	ORPHA:79243
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Hypoplasia of...	ORPHA:3404
Myhre Syndrome	Vertebral fusion, Overlapping toe, Joint stiffness, Short neck, Short toe, Limitation of joint mo...	OMIM:139210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly	OMIM:619479
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Short neck, Craniosynostosis, Micromelia	OMIM:200995
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ...	OMIM:612651
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger...	ORPHA:261323
Alg9-Cdg	Microretrognathia, Ulnar deviation of the hand, Rhizomelia, Short neck, Micrognathia, Wide anteri...	ORPHA:79328
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Elbo...	OMIM:122470
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Kyphosis, Hip dislocation, Genu...	ORPHA:534
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Coxa valga, Avascular necr...	ORPHA:3107
Adult-Onset Still Disease	Cartilage destruction, Arthritis, Bone marrow hypocellularity	ORPHA:829
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendon contracture, Redu...	ORPHA:404454
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Gaucher Disease Type 3	Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce...	ORPHA:77261
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly...	OMIM:146510
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Kyphoscoliosis, Bifid distal phalanx of the thumb, Microgna...	ORPHA:97360
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Talipes equinovarus, Scoliosis, Limb undergrowth	OMIM:619124
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Short neck, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Cystinosis	Rickets	ORPHA:213
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone morphology, Hand pol...	ORPHA:289
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
8Q24.3 Microdeletion Syndrome	Long toe, Joint laxity, Thoracic scoliosis, Congenital hip dislocation, Short femur, Rocker botto...	ORPHA:508488
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Arthritis, Anterior beaking of lumbar vertebrae, Sc...	ORPHA:93
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Short neck	ORPHA:1675
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands, Abnormal femoral tors...	ORPHA:500095
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Micrognathia, Long...	OMIM:256520
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Cystinosis, Nephropathic	Hypophosphatemic rickets, Metaphyseal widening, Rickets, Genu valgum	OMIM:219800
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly	OMIM:616541
Celiac Disease, Susceptibility To, 1	Osteoporosis, Decreased circulating IgA level, Rickets	OMIM:212750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Short neck, Micrognathia, Postaxial hand ...	OMIM:613610
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Kyphosis, Polydactyly...	ORPHA:464306
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Stippled calcification of the shoulder, A...	ORPHA:51608
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Overlapping toe, Kyphoscoliosis, Short neck, Micrognathia, Wide anterior...	ORPHA:798
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Micrognathia, Kyphosis, P...	ORPHA:818
Smith-Lemli-Opitz Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Proximal placement of thumb, Micromelia, Metat...	OMIM:270400
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
C Syndrome	Sacral dimple, Toe syndactyly, Micromelia, Short neck, Micrognathia, Limitation of joint mobility...	ORPHA:1308
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Schisis Association	Micromelia	ORPHA:63862
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Scoliosis, Thin bony cortex	OMIM:613658
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Overlapping toe, Abnormal isohemagglutinin level	ORPHA:99843
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis	ORPHA:29207
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Proximal placement of thumb, Joint stiffness, Microm...	ORPHA:199
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Hip subluxation, Mesomelia	OMIM:613457
Distal Renal Tubular Acidosis	Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density	ORPHA:18
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone, Bilateral ta...	OMIM:306955
Wilson Disease	Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility	OMIM:277900
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Peters Plus Syndrome	Sacral dimple, Toe syndactyly, Rhizomelia, Micromelia, Short neck, Micrognathia, Short toe, Short...	ORPHA:709
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Decreased circulating total IgA, Arthritis, Decreased circulating to...	OMIM:619381
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405

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 Acp5

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 Acp5.

No publications found that use IMPC mice or data for Acp5.

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
Acp5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Acp5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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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