Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Crtap MGI:1891221

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cartilage associated protein

Synonyms:

Leprel3, P3h5, 5730529N23Rik, CASP

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 Crtap 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 Crtap (2 diseases)
Human diseases predicted to be associated with Crtap (755 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cole-Carpenter Syndrome		Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno...	ORPHA:2050
Osteogenesis Imperfecta, Type Vii		Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing...	OMIM:610682

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

Disease	Matching phenotypes	Source
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
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
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Platyspon...	OMIM:617974
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Isolated Glycerol Kinase Deficiency	Scoliosis, Osteoporosis, Short stature, Hyperlordosis	ORPHA:408
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Osteoporosis	Osteoporosis	OMIM:166710
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo...	OMIM:614727
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Short stature	ORPHA:71267
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morpholo...	ORPHA:85198
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis, Short stature	ORPHA:2786
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Short...	ORPHA:93351
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor...	ORPHA:93304
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Delayed puberty	OMIM:616033
Forsythe-Wakeling Syndrome	Growth delay, Osteoporosis, Short stature	OMIM:613606
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Spondylometaphyseal Dysplasia, Kozlowski Type	Elbow flexion contracture, Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypop...	OMIM:184252
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv...	ORPHA:2370
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
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Odontochondrodysplasia 1	Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short stature, Osteo...	OMIM:184260
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615270
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Short stature, Kyphoscoliosis, Coxa valga, Hyperlordosis, Disproportionate short...	OMIM:618363
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Fractures of the long bon...	ORPHA:319195
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b...	OMIM:600384
Hypergonadotropic Hypogonadism-Cataract Syndrome	Short stature, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Delayed puberty	ORPHA:2410
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosi...	OMIM:612350
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Disp...	OMIM:619131
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Broad hallux, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxia...	ORPHA:3433
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Intrauterine growth re...	ORPHA:48431
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert...	OMIM:156510
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis...	OMIM:610968
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Shor...	OMIM:618392
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis...	ORPHA:3409
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ...	ORPHA:94068
Geroderma Osteodysplastica	Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Hip dislocation, Osteopor...	ORPHA:2078
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Brachydactyly	OMIM:612463
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Hamstring contractures, Intrauterine growth retardation, Abnormal ver...	ORPHA:96183
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ...	OMIM:612847
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Short stature, Bowing of the legs	OMIM:146350
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Scoliosis...	OMIM:620386
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Short stature, Slender long bones with narrow diaphyses, Int...	ORPHA:50811
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ...	OMIM:613849
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Short stature, Recurrent fractures, Kyphoscoliosis, Hip dislocation,...	OMIM:616507
Juvenile Paget Disease	Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,...	ORPHA:2801
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Short stature, Hyper...	OMIM:226980
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr...	ORPHA:40
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve...	ORPHA:577
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Kyphoscoliosis, Joint hypermobility	ORPHA:300179
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Recurrent fract...	OMIM:614856
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn...	ORPHA:970
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Proteus Syndrome	Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy...	OMIM:176920
Warburg Micro Syndrome 1	Short stature, Overlapping toe, Kyphoscoliosis, Osteoporosis, Joint hypermobility	OMIM:600118
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Abnormal odont...	OMIM:277300
Perrault Syndrome 1	Scoliosis, Osteoporosis, Short stature	OMIM:233400
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,...	ORPHA:2788
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Mycetoma	Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Abnormal for...	ORPHA:2583
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Osteoporosis, Coxa valga	ORPHA:2958
Prieto Syndrome	Clinodactyly, Osteoporosis, Radial deviation of finger, Coxa valga	OMIM:309610
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
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
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo...	OMIM:615066
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon...	OMIM:265900
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Richieri Costa-Da Silva Syndrome	Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver...	ORPHA:3101
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Rothmund-Thomson Syndrome, Type 1	Osteoporosis, Short stature	OMIM:618625
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal for...	ORPHA:93160
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Short neck, Metaphyseal wideni...	OMIM:255800
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra...	OMIM:610967
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Metatropic Dysplasia	Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil...	ORPHA:1515
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st...	OMIM:231070
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ...	ORPHA:93316
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco...	OMIM:615349
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Camptodactyly, Adducted thumb	OMIM:618011
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal, Short tibia...	OMIM:118651
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s...	ORPHA:263463
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis, Adducted thumb, Flare...	OMIM:610758
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Lumbar hyperlordosis, Kyphoscoliosis,...	OMIM:184253
Mucopolysaccharidosis, Type Iva	Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Short ...	OMIM:253000
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300554
Sialidosis Type 2	Kyphosis, Flexion contracture, Osteoporosis, Short stature	ORPHA:87876
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Scoliosis, Reduced bone mineral density	OMIM:620200
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Coxoauricular Syndrome	Short stature, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal...	ORPHA:1508
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Osteoporosis, Knee osteoarthritis, Coxa...	ORPHA:2848
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem...	ORPHA:1901
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Growth delay, Syndactyly, Osteoporosis, Camptodactyly	OMIM:616006
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ca...	OMIM:614815
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ...	ORPHA:93296
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sho...	OMIM:114300
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Thoracolumbar kyphoscoliosi...	OMIM:617396
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p...	ORPHA:65759
Leukodystrophy, Hypomyelinating, 17	Growth delay, Flexion contracture, Kyphoscoliosis	OMIM:618006
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Short stature, Osteoporosis, Growth delay, Delayed puberty	ORPHA:369
Menkes Disease	Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intrauterine ...	OMIM:309400
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis	ORPHA:100024
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ...	ORPHA:536516
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac...	OMIM:602152
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Metaphyseal cupping, Genu varum	OMIM:619073
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Joint ...	OMIM:253010
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Osteopenia, Arachnodactyly, Short stature, Kyphoscoliosis, Flexion contracture, Growth ...	ORPHA:75496
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo...	OMIM:146000
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,...	OMIM:617952
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Short stature	OMIM:193100
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Disproportionate short s...	OMIM:617425
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Long fingers, Hip dislocation, Osteoporosis, Growth delay, Hip dysplasia, Intraut...	ORPHA:447980
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bowing of the long bones, Congenital kyphoscoliosis, Arachnodactyly,...	OMIM:121050
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Advanced ossification of carpal bones, Short long bone, ...	OMIM:620269
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short stature, Short neck, Osteoporosis, Disproportionat...	ORPHA:85194
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Avascular necrosis of the capital femoral epiphysis, Osteopenia, Short stature, Scoliosis	OMIM:611555
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Postnatal growth retardation...	OMIM:313400
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,...	OMIM:239850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Osteoporosis, Severe postnatal growth retardation, S...	ORPHA:73272
Ck Syndrome	Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Joint hypermobility	ORPHA:251383
Myotonia With Skeletal Abnormalities And Mental Retardation	Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum	OMIM:255710
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Short stature, Bowing of the legs	OMIM:615605
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni...	OMIM:300232
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion...	OMIM:277720
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Elbow flexion contracture, Osteop...	OMIM:616200
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage...	OMIM:156550
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Osteoporosis, Subcutane...	OMIM:103580
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Kyphoscoliosis, Coxa valga, Flexion contracture, Osteoporosis, Elbow flexion ...	OMIM:214150
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly	OMIM:612913
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle...	OMIM:618484
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Tenosynovial Giant Cell Tumor	Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shoulder morphology, Abnormal...	ORPHA:66627
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture	OMIM:610687
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal...	ORPHA:140976
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Congenital Myopathy 23	Flexion contracture, Kyphoscoliosis	OMIM:609285
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short stature, Rhizomelia, Broad femoral neck, Short neck, Postna...	OMIM:611209
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal...	OMIM:163200
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me...	ORPHA:93346
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Kyphoscoliosis	OMIM:617977
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Kyphoscoliosis, Wrist flexion contracture, Ankle flexion contracture	OMIM:616668
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Neo...	ORPHA:35173
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Kyphoscoliosis	OMIM:615541
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Kyphoscoliosis	OMIM:300844
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave ...	OMIM:236200
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Short long bone, Flared elbow metaphyses	ORPHA:1423
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joi...	ORPHA:2176
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Kyphoscoliosis	OMIM:607855
Joint Laxity, Short Stature, And Myopia	Kyphoscoliosis, Short stature, Cervical kyphosis, Joint hypermobility	OMIM:617662
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Severe generalized osteoporosis, Kyphoscoliosis, Hypoplast...	OMIM:210730
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Kyphoscoliosis, Knee flexion contracture	ORPHA:496689
Cleidocranial Dysplasia	Hypoplastic scapulae, Short stature, Down-sloping shoulders, Recurrent fractures, Tapered finger,...	ORPHA:1452
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ...	OMIM:300009
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis	ORPHA:79301
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Del...	OMIM:606631
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Squared iliac bones, H...	OMIM:618000
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Limited elbow extension, Coro...	OMIM:614078
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty, Joint hyper...	OMIM:619718
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:264700
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Methylcobalamin Deficiency Type Cble	Syndactyly, Postnatal growth retardation, Osteoporosis, Scoliosis, Intrauterine growth retardatio...	ORPHA:2169
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Short stature, Osteomalacia, Bowing of the legs, Reduced bone mineral density, Growth delay, Hypo...	ORPHA:157215
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Spastic Paraplegia 20, Autosomal Recessive	Short stature, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Short foot, Hamm...	OMIM:275900
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Brachydactyly	OMIM:612462
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Down-sloping shoulders, Proportionate short stature, Deviation of the 5th toe, Shor...	ORPHA:391408
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ...	ORPHA:289157
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Intrauterine growth retardation, Join...	OMIM:618005
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Growth delay, Intrauterine growth re...	OMIM:610756
Diamond-Blackfan Anemia 7	Osteopenia, Short thumb, Osteoporosis, Growth delay, Triphalangeal thumb, Scoliosis, Intrauterine...	OMIM:612562
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Roussy-Lévy Syndrome	Kyphoscoliosis, Scoliosis, Genu valgum	ORPHA:3115
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis	OMIM:146720
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi...	OMIM:166220
Analbuminemia	Osteoporosis	OMIM:616000
Central Core Disease	Multiple joint contractures, Kyphoscoliosis, Congenital hip dislocation, Joint laxity	ORPHA:597
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Jo...	OMIM:619542
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Hemi...	OMIM:302960
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho...	ORPHA:93324
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation	OMIM:619751
Larsen-Like Syndrome	Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Radial deviation of the 4th ...	OMIM:608545
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Spinal Muscular Atrophy, Ryukyuan Type	Kyphoscoliosis	OMIM:271200
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Scholte Syndrome	Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot	OMIM:300977
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Acromicric Dysplasia	Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot...	OMIM:102370
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital disloca...	ORPHA:536467
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Recurrent fractures, Postnatal growth retardation, 2-3 toe syndactyly, Joint hyperfle...	ORPHA:2324
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H...	ORPHA:93315
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterin...	OMIM:617190
Hutchinson-Gilford Progeria Syndrome	Growth delay, Osteolysis, Generalized osteoporosis	OMIM:176670
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Sacral dimple, Short stature, Camptodactyly of finger, Recu...	ORPHA:3206
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increa...	OMIM:609220
Immunodeficiency 12	Growth delay, Short stature, Clubbing, Osteoporosis	OMIM:615468
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta...	OMIM:612199
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Clinodactyly of the 5th finger, Intraute...	OMIM:608747
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Increased vertebral height,...	OMIM:616817
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla...	OMIM:143095
Congenital Muscular Dystrophy Without Intellectual Disability	Achilles tendon contracture, Kyphoscoliosis	ORPHA:370980
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Short stature, Kyphoscoliosis, Delayed puberty	OMIM:612079
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c...	OMIM:608154
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Short stature, Rhizomelia, Recurrent fra...	OMIM:616229
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Scol...	OMIM:300280
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short iliac bones, Me...	OMIM:607944
Ullrich Congenital Muscular Dystrophy 2	Kyphoscoliosis, Flexion contracture, Joint hypermobility	OMIM:616470
Foxg1 Syndrome	Severe postnatal growth retardation, Kyphoscoliosis, Short stature, Scoliosis	ORPHA:561854
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis	OMIM:300915
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal a...	OMIM:609128
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor...	OMIM:309583
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Kyphoscoliosis	OMIM:619099
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys...	ORPHA:485
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Abnormal for...	ORPHA:371428
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Osteoporosis, Scoliosis	OMIM:615381
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Arthrogryposis, Distal, Type 2A	Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Recurrent fractures, Postnatal...	OMIM:193700
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Mitochondrial Complex I Deficiency, Nuclear Type 8	Stiff neck, Kyphoscoliosis	OMIM:618230
Roussy-Levy Hereditary Areflexic Dystasia	Hammertoe, Kyphoscoliosis	OMIM:180800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Kyphoscoliosis	OMIM:607831
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Short neck, Wide distal femoral metaphysis, Postnatal growt...	OMIM:613320
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Hypoplastic isc...	OMIM:151210
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper...	ORPHA:96201
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Stuve-Wiedemann Syndrome 1	Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx o...	OMIM:601559
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal ...	ORPHA:582
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Rhizomelic Syndrome, Urbach Type	Short stature, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp...	ORPHA:3098
Paternal Uniparental Disomy Of Chromosome 5	Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis	ORPHA:96190
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Rickets	OMIM:602722
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Delayed puberty	ORPHA:2235
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Short phalanx of finger, Genu varum, Joint laxity, Short metaca...	OMIM:615777
13Q12.3 Microdeletion Syndrome	Short stature, Kyphoscoliosis, Hip dysplasia, Camptodactyly, Intrauterine growth retardation	ORPHA:412035
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Shoulder dislocation, Dislocated radial head, Short stature, Rhizomelia, ...	OMIM:245600
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Small hand, Clubbing of toes, Osteolys...	ORPHA:2796
Gorham-Stout Disease	Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp...	ORPHA:73
Progressive Familial Intrahepatic Cholestasis	Short stature, Reduced bone mineral density	ORPHA:172
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Reduced bone mineral densit...	OMIM:620232
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Pontocerebellar Hypoplasia, Type 2E	Scoliosis, Flexion contracture, Osteoporosis, Short stature	OMIM:615851
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal...	ORPHA:536471
Seckel Syndrome 8	Short stature, Kyphoscoliosis	OMIM:615807
Ruvalcaba Syndrome	Short metacarpal, Short stature, Kyphosis, Limited elbow extension, Small hand, Short metatarsal,...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Short stature, Craniosyno...	OMIM:616723
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hammertoe, Split hand, Kyphoscoliosis	OMIM:118220
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dens...	OMIM:252930
Singleton-Merten Syndrome 2	Osteopenia, Scoliosis, Short stature, Osteolytic defects of the phalanges of the hand	OMIM:616298
Charcot-Marie-Tooth Disease, Type 4B2	Hammertoe, Split hand, Kyphoscoliosis	OMIM:604563
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Partial duplication of thumb phalanx...	OMIM:616331
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Kyphoscoliosis	OMIM:605588
Brown-Vialetto-Van Laere Syndrome 2	Kyphoscoliosis, Split hand, Scoliosis	OMIM:614707
Nasu-Hakola Disease	Bone cyst, Abnormal epiphysis morphology, Limitation of joint mobility, Reduced bone mineral density	ORPHA:2770
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ...	OMIM:250420
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Small hand, Short foot, Scoliosis, Intrauterine growth retardation,...	ORPHA:254531
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis	OMIM:301107
Werner Syndrome	Low back pain, Osteoporosis, Short stature, Reduced bone mineral density	OMIM:277700
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl...	ORPHA:90354
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies...	OMIM:102500
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Tapered finge...	OMIM:300998
Indolent Systemic Mastocytosis	Osteoporosis	ORPHA:98848
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scol...	ORPHA:2617
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Scoliosis, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:616354
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility	OMIM:619115
Charcot-Marie-Tooth Disease Type 4D	Hammertoe, Split hand, Kyphoscoliosis	ORPHA:99950
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Hip dislocation, Osteoporosis, Elbow flexion contracture, Intrau...	OMIM:614438
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral bodies, Triang...	ORPHA:73230
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Tetrasomy 15Q26	Intrauterine growth retardation, Arachnodactyly, Kyphoscoliosis, Camptodactyly	OMIM:614846
Charcot-Marie-Tooth Disease Type 1A	Kyphoscoliosis	ORPHA:101081
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density, Finger clinodactyly, Growth delay	ORPHA:261476
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Mucolipidosis Iii Gamma	Short stature, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis, Kyphos...	OMIM:252605
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Flexion contractur...	OMIM:215150
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala...	OMIM:259100
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Reduced bone mineral density...	ORPHA:1488
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g...	ORPHA:263508
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Classic Galactosemia	Osteoporosis, Delayed puberty, Reduced bone mineral density	ORPHA:79239
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hammertoe, Split hand, Kyphoscoliosis	OMIM:118200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Joint stiffness, Postnatal growth retardation, Reduced bone mineral density, Joint...	OMIM:620210
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Postnatal growth...	ORPHA:353298
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Rahman Syndrome	Kyphoscoliosis, Camptodactyly	OMIM:617537
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Short stature	OMIM:211600
Nestor-Guillermo Progeria Syndrome	Short stature, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteol...	OMIM:614008
Coffin-Siris Syndrome 6	Clinodactyly, Short stature, Kyphoscoliosis, Brachydactyly	OMIM:617808
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Oste...	OMIM:620351
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Kyphoscoliosis, Tapered finger, Short neck, Elbow flexion contracture, Radial deviati...	OMIM:272430
Dyskeratosis Congenita, Autosomal Dominant 3	Short stature, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Growth delay, I...	OMIM:613990
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont...	ORPHA:115
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Kyphoscoliosis, Short neck, Flexion contracture, Small hand, Scoliosis, Wrist flexion contracture	OMIM:300055
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Severe short stature, Joint hypermobility, Thoraco...	OMIM:618853
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine...	OMIM:112240
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Niemann-Pick Disease, Type A	Osteoporosis, Short stature	OMIM:257200
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi...	OMIM:269300
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Short stature, Kyphoscoliosis, Metatarsus adductus, Postnatal growth retardation,...	OMIM:612513
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Short stature, Thoracolumbar scoliosis...	ORPHA:230851
Hypertrophic Neuropathy Of Dejerine-Sottas	Hammertoe, Split hand, Kyphoscoliosis, Scoliosis	OMIM:145900
Autosomal Recessive Spastic Paraplegia Type 23	Kyphoscoliosis, Hip dislocation, Short stature	ORPHA:101003
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Short neck, Metaphyseal widenin...	OMIM:224400
Cardiofaciocutaneous Syndrome 3	Short stature, Short neck, Scoliosis, Reduced bone mineral density	OMIM:615279
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Disproportionate short stature, Flexion contracture, Epiph...	OMIM:222765
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon...	OMIM:616294
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Short stature, 2-3 toe syndactyly, Scoliosis	ORPHA:391307
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:785
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Macs Syndrome	Joint laxity, Short stature, Osteoporosis, Scoliosis, Joint hypermobility, Brachydactyly	OMIM:613075
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontanel, Ulnar bowing, Short...	OMIM:619135
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Spina bif...	ORPHA:1185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Osteoporosis, Scoliosis, Lambdoidal craniosynostosis	OMIM:615398
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis...	OMIM:253200
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Prader-Willi Syndrome	Osteopenia, Syndactyly, Short stature, Kyphosis, Acromicria, Small hand, Osteoporosis, Genu valgu...	OMIM:176270
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Delayed epiphyseal ossification, Flexion contracture, Sho...	OMIM:616007
Achondrogenesis, Type Ii	Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Dispropo...	OMIM:200610
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalang...	ORPHA:536532
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Joint laxity, Hip contracture, Overlapping toe, Rocker bottom foot, Short stature, Tapered finger...	ORPHA:488642
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Short stature	OMIM:611590
Leukodystrophy, Hypomyelinating, 3	Joint contracture, Kyphoscoliosis	OMIM:260600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno...	ORPHA:2636
46,Xx Gonadal Dysgenesis	Osteopenia, Arachnodactyly, Short stature, Reduced bone mineral density, Delayed puberty, Osteopo...	ORPHA:243
Three M Syndrome 1	Short stature, Short neck, Postnatal growth retardation, Increased vertebral height, Hyperlordosi...	OMIM:273750
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Split hand, Short stature, Kyphoscoliosis	OMIM:604168
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Scoliosis, Reduced bone mineral density	ORPHA:2611
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati...	ORPHA:2962
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Increased intervert...	OMIM:224300
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Osteoporosis, Growth delay, Intrauterine growth retardation	ORPHA:2409
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal...	OMIM:252600
Ataxia-Oculomotor Apraxia Type 4	Abnormal toe morphology, Kyphoscoliosis	ORPHA:459033
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Propionic Acidemia	Osteoporosis, Short stature	OMIM:606054
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor...	OMIM:304120
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Metaphyseal chondrod...	OMIM:156400
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Schwartz-Jampel Syndrome	Short neck, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally ossi...	ORPHA:800
Allan-Herndon-Dudley Syndrome	Flexion contracture, Short stature, Kyphoscoliosis	ORPHA:59
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cleft vertebrae, Dec...	OMIM:620076
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Short stature, Delayed puberty, Shor...	ORPHA:2959
Charcot-Marie-Tooth Disease, Type 4D	Hammertoe, Claw hand deformity, Kyphoscoliosis	OMIM:601455
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Split hand, Hypopla...	OMIM:200980
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short stature, Osteoporosis, Growth delay, Delayed puberty	ORPHA:2326
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Kyphoscoliosis	OMIM:617105
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Postnatal growth retardation, Flexion contracture, Kyphoscoliosis	OMIM:614222
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,...	OMIM:304150
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Growth delay, Triphalangeal thumb, Dela...	ORPHA:2232
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Acrootoocular Syndrome	Short metacarpal, Sandal gap, Abnormal finger flexion crease, Short stature, Kyphoscoliosis, Shor...	ORPHA:2980
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Genu valgum, Growth delay	ORPHA:91
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Postnatal growth retardation, Hip dislocation, Intraute...	OMIM:616603
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Kyphoscoliosis, Short neck, Flexion contracture, Hip dislocation, Elbow flexi...	OMIM:618947
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Proportionate short stature, Short toe, Widely spaced toes, Joint hypermobility	ORPHA:404443
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Short stature	OMIM:134600
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab...	ORPHA:666
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Short stature, Aplasia/hypopla...	ORPHA:221016
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Vertebral segmentation defect, Pol...	ORPHA:531151
Charcot-Marie-Tooth Disease, Type 4A	Hammertoe, Kyphoscoliosis	OMIM:214400
Hajdu-Cheney Syndrome	Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short ...	ORPHA:955
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Short stature, Short neck, Hyperlordosi...	ORPHA:1798
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae, Growth delay, Delayed puberty	ORPHA:95619
Laron Syndrome	Delayed menarche, Short long bone, Severe short stature	OMIM:262500
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, Slender long bone, O...	OMIM:601812
Monosomy 18P	Short stature, Short neck, Kyphoscoliosis, Brachydactyly	ORPHA:1598
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Short stature, Metaphyseal scl...	ORPHA:221008
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Intrauterine gro...	ORPHA:2671
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Delayed puberty, Camptodactyly	ORPHA:432
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Arachnodactyly, Short stature, Congenital kyphoscoliosis,...	ORPHA:536545
Celiac Disease, Susceptibility To, 1	Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Delayed puberty	OMIM:212750
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Kyphoscoliosis	OMIM:617664
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Short stature, Osteoporosis, Finger joint hypermobility, Scoliosis	ORPHA:363705
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Osteopetrosis, Autosomal Recessive 7	Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Short stature	OMIM:612089
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Distal joint laxity, Generalized joint l...	ORPHA:1900
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis	OMIM:616684
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Short stature, Kyphoscoliosis	ORPHA:3077
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter...	OMIM:618644
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno...	ORPHA:2050
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification of hand bones, H...	OMIM:109400
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Short stature, Kyphoscoliosis, Partial duplication of thumb phalan...	OMIM:618348
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Short stature, Aplasia/H...	ORPHA:2909
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hyperlordosis, Spinal rigidity, Flexion contracture, Osteoporosis, Scoliosis	OMIM:613327
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Short stature, Kyphosis, Flexion contracture, Small hand, Osteoporosis, Short foot, H...	ORPHA:398069
Hemochromatosis, Type 1	Osteoporosis	OMIM:235200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphos...	OMIM:225400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth...	OMIM:612394
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Growth de...	ORPHA:96170
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Craniosynostosis, Tapered finger, Kyphoscoliosis, Generalized joint laxity, Sc...	ORPHA:2953
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co...	OMIM:309350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint hypermobility, Joint stiffness, Postnatal growth retardation, Short long bone, Scoliosis, S...	OMIM:619184
Sickle Cell Anemia	Osteomyelitis, Osteoporosis	ORPHA:232
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Metatarsus adductus, Postnatal growth retardati...	ORPHA:300570
Aggressive Systemic Mastocytosis	Pathologic fracture, Osteoporosis, Osteolysis	ORPHA:98850
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis, Delayed puberty	ORPHA:91348
Werner Syndrome	Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Small hand, O...	ORPHA:902
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip...	OMIM:118650
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Osteoporosis, Short foot, Hip dysplasia, Scoliosis	ORPHA:398079
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Thora...	OMIM:613848
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Short stature, Small hand, Osteoporosis, Short foot, Hip dysplasia, Scoliosis, Delaye...	ORPHA:98754
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic...	ORPHA:163654
Ane Syndrome	Multiple joint contractures, Short stature, Kyphoscoliosis, Delayed puberty	ORPHA:157954
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis	OMIM:300886
Greenberg Dysplasia	Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplast...	OMIM:215140
Gillessen-Kaesbach-Nishimura Syndrome	Short neck, Wide anterior fontanel, Metaphyseal widening, Flexion contracture, Short long bone, N...	OMIM:263210
Adrenomyodystrophy	Short stature, Reduced bone mineral density	ORPHA:977
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Short stature, Small hand, Osteoporosis, Short foot, Hip dysplasia, Scoliosis, Delaye...	ORPHA:98793
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short stature, Kyphoscoliosis, Short thumb, Small hand, Osteoporosis,...	OMIM:268400
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporo...	ORPHA:3063
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Short stature, Small hand, Osteoporosis, Short foot, Hip dysplasia, Scoliosis, Delaye...	ORPHA:177904
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis	ORPHA:324410
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Arthritis, Stiff in...	ORPHA:465508
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Short stature, Small hand, Osteoporosis, Short foot, Hip dysplasia, Scoliosis, Delaye...	ORPHA:177901
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Growth delay, Rickets	ORPHA:2088
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing, Short tibi...	ORPHA:96334
Intellectual Disability, Buenos-Aires Type	Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Clinodactyly...	ORPHA:3079
Prader-Willi Syndrome	Osteopenia, Short stature, Small hand, Osteoporosis, Increased susceptibility to fractures, Short...	ORPHA:739
Glycogen Storage Disease Ia	Short stature, Osteoporosis, Gout, Growth delay, Delayed puberty	OMIM:232200
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Dyskeratosis Congenita, Autosomal Dominant 2	Osteoporosis, Short stature	OMIM:613989
Beta-Thalassemia Intermedia	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Reduced bone mineral density	ORPHA:231222
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili...	ORPHA:3003
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Clubbing of fingers, Kyphoscoliosis, Scoliosis	OMIM:619574
Farber Disease	Short stature, Short toe, Flexion contracture, Osteoporosis, Arthritis, Short finger	ORPHA:333
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Osteoporosis, Short stature	ORPHA:79240
Cystinosis	Rickets, Short stature, Delayed puberty	ORPHA:213
Aicardi-Goutieres Syndrome 9	Intrauterine growth retardation, Osteoporosis, Scoliosis	OMIM:619487
Dominant Beta-Thalassemia	Bowing of the long bones, Osteoporosis, Genu valgum, Growth delay, Delayed puberty	ORPHA:231226
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Kagami-Ogata Syndrome	Long fingers, Flexion contracture, Kyphoscoliosis, Coxa valga	OMIM:608149
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Coxa valga, Tapered finger, Postnatal growth retardation, Kyphosis, Hemivertebrae...	OMIM:301040
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Kyphoscoliosis, Camptodactyly, Clinodactyly, Brachydactyly	ORPHA:397709
Geleophysic Dysplasia 1	Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor...	OMIM:231050
Loeys-Dietz Syndrome 5	Short stature, Arachnodactyly, Kyphoscoliosis, Osteoarthritis, Cervical spine instability, Growth...	OMIM:615582
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Short stature	OMIM:616026
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Rickets	ORPHA:79303
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Preaxial hand polydactyly, ...	ORPHA:280
Glass Syndrome	Short stature, Arachnodactyly, Anterior tibial bowing, Camptodactyly, Generalized osteoporosis	OMIM:612313
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all ...	OMIM:218330
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, Postaxial foot...	OMIM:607330
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the...	OMIM:619269
Episodic Ataxia Type 1	Kyphoscoliosis, Scoliosis	ORPHA:37612
Arthrogryposis And Ectodermal Dysplasia	Short stature, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint contractu...	OMIM:601701
Spinocerebellar Ataxia, Autosomal Recessive 31	Clinodactyly of the 5th finger, Growth delay, Lumbar kyphoscoliosis	OMIM:619422
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Refractory Celiac Disease	Osteoporosis	ORPHA:398063
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept...	OMIM:166200
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Postnatal growth retardation, Coxa valga, Limitation of joint mobility	ORPHA:254519
Congenital Myasthenic Syndrome	Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Kyphoscoliosis, Spinal ...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Kyphoscoliosis, Spinal ...	ORPHA:98914
Xylt1-Cdg	Joint laxity, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, Short ...	ORPHA:370930
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo...	ORPHA:565
Tbck-Related Intellectual Disability Syndrome	Broad toe, Short neck, Osteoporosis, 2-3 toe syndactyly, Broad finger, Scoliosis, Clinodactyly	ORPHA:488632
Dyskeratosis Congenita	Short stature, Recurrent fractures, Osteoporosis, Scoliosis, Intrauterine growth retardation, Coa...	ORPHA:1775
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati...	ORPHA:2834
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces...	OMIM:252500
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Restrictive Dermopathy 1	Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Ankylosis, Wide anterior fontanel, Fl...	OMIM:275210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Growth delay, Osteoporosis, Short stature, Delayed puberty	ORPHA:264580
Beta-Thalassemia Major	Bowing of the long bones, Osteoporosis, Genu valgum, Growth delay, Delayed puberty	ORPHA:231214
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Platyspondyly, M...	OMIM:614524
Monosomy 18Q	Arachnodactyly, Short stature, Kyphoscoliosis, Tapered finger, Growth delay, Atlantoaxial abnorma...	ORPHA:1600
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Kyphosis, Limitation of joint mobility, Osteo...	OMIM:133540
Marbach-Rustad Progeroid Syndrome	Femur fracture, Short stature, Reduced bone mineral density, Growth delay, Short clavicles, Intra...	OMIM:619322
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation...	ORPHA:293843
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density	ORPHA:83629
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Kyphoscoliosis	OMIM:620075
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur morphology, Pol...	ORPHA:562
Glycogen Storage Disease Ib	Osteoporosis, Gout, Short stature, Delayed puberty	OMIM:232220
Lowe Oculocerebrorenal Syndrome	Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Hip...	OMIM:309000
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Bowing of the legs, Decreased calvarial ossification, Short clavi...	ORPHA:313855
Glycerol Kinase Deficiency	Growth delay, Pathologic fracture, Osteoporosis, Short stature	OMIM:307030
Atelosteogenesis Type Ii	Cervical kyphosis, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical v...	ORPHA:56304
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing...	OMIM:610682
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Hip dislocation, Oste...	OMIM:182250
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Bone cyst, Fl...	ORPHA:3042
Floating-Harbor Syndrome	Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short stature, ...	OMIM:136140
Dyskeratosis Congenita, Autosomal Recessive 1	Osteoporosis	OMIM:224230
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga...	ORPHA:1328
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Short neck, Anisosp...	ORPHA:1865
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:53721
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
Pontocerebellar Hypoplasia, Type 10	Growth delay, Short neck, Kyphoscoliosis, Tapered finger	OMIM:615803
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density	ORPHA:2720
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Broad distal pha...	OMIM:609465
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Short stature, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Coxa valga,...	OMIM:212066
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe ...	ORPHA:99413
Turner Syndrome	Osteopenia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe ...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe ...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe ...	ORPHA:99226
Prolactinoma	Osteopenia, Osteoporosis, Delayed puberty	ORPHA:2965
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Kyphoscoliosis	OMIM:614557
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky...	ORPHA:558
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sacral dimple, Toe syndactyly, Tapered finger, Osteoporosis, Growth delay, Lower-limb joint contr...	ORPHA:459070
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Autosomal Recessive Spastic Paraplegia Type 77	Hip dysplasia, Kyphoscoliosis	ORPHA:466722
Fanconi-Bickel Syndrome	Postnatal growth retardation, Rickets, Osteomalacia	OMIM:227810
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Femoral bowing, Short long bone, Overlapping fingers,...	OMIM:617022
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Distal Deletion 12Q	Overlapping toe, Broad hallux, Short stature, Short neck, Kyphoscoliosis, Wide anterior fontanel,...	ORPHA:96149
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Bone cyst, Genu valgum, ...	ORPHA:363700
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys...	ORPHA:97685
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Abnormal f...	ORPHA:909
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Overlapping toe, Kyphoscoliosis, Short neck, Wide anterior fontanel, Hyp...	ORPHA:798
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Joint hypermobility, Me...	OMIM:259050
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Hyperlordosis, Kyphoscoli...	ORPHA:2020
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Reduced bone mineral density, Scoliosis, Intrauterine growth r...	ORPHA:1556
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Kyphoscoliosis, Brachydactyly	OMIM:620237
Autosomal Recessive Spastic Paraplegia Type 9B	Growth delay, Short stature, Kyphoscoliosis	ORPHA:447760
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Kyphoscoliosis	ORPHA:397695
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Short stature, Rocker bottom foot, Limita...	ORPHA:79474
Systemic Mastocytosis With Associated Hematologic Neoplasm	Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth delay, Increased susce...	ORPHA:18
Congenital Myopathy 13	Kyphoscoliosis, Flexion contracture, Short stature, Scoliosis	OMIM:255995
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Lysinuric Protein Intolerance	Osteoporosis, Recurrent fractures, Short stature	OMIM:222700
You-Hoover-Fong Syndrome	Clinodactyly, Kyphoscoliosis, Brachydactyly	OMIM:616954
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Short stature, Rickets, Reduced bone mineral density, Growth delay, Sco...	OMIM:613658
Dyskeratosis Congenita, Autosomal Dominant 1	Osteoporosis	OMIM:127550
Leopard Syndrome 1	Short stature, Limited elbow movement, Short neck, Kyphoscoliosis, Delayed puberty, Delayed menar...	OMIM:151100
Congenital Disorder Of Deglycosylation 1	Short foot, Scoliosis, Small hand, Osteoporosis	OMIM:615273
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Long toe, Short stature, 2-3 toe syndactyly, Atlantoaxi...	ORPHA:3455
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Short stature, Osteoporosis, Gout, Increased susceptibility to fractures, Growth dela...	ORPHA:79259
Abetalipoproteinemia	Osteopenia, Kyphoscoliosis	ORPHA:14
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Delayed puberty, Short stature, Reduced bone mineral density	ORPHA:90796
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Kyphoscoliosis, Bifid distal phalanx of the ...	ORPHA:97360
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Short neck, Abno...	ORPHA:2911
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly	ORPHA:86309
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T...	OMIM:612731
Mevalonic Aciduria	Short stature, Kyphoscoliosis	OMIM:610377
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos...	OMIM:610168
Primary Biliary Cholangitis	Osteoporosis	ORPHA:186
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Primary Dystonia, Dyt4 Type	Kyphoscoliosis	ORPHA:98805
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Delayed puberty, Reduced bone mineral density	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Delayed puberty, Reduced bone mineral density	ORPHA:289548
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint...	ORPHA:457359
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:95159
Marfan Syndrome	Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, Metatarsus adductus, Flex...	OMIM:154700
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis, Scoliosis	OMIM:203700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Delayed puberty, Synostosis of ...	OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis, Scoliosis, Hyperlordosis	ORPHA:365
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Wilson Disease	Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility	OMIM:277900
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Short stature, Growth delay, Delayed puberty, Generalized osteoporosis	ORPHA:391487
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis	ORPHA:99750
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Proportionate shor...	ORPHA:500150
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Overlapping toe, Short stature, Kyphoscoliosis, Knee flexion contracture, Hip dyspl...	OMIM:617402
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Hip dislocation, Hip dysplasia, Camptodactyly, Joint contracture	OMIM:617403
Noonan Syndrome 1	Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Synovitis, Radial deviat...	OMIM:163950
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Short long bone, Disproportionate short-limb shor...	OMIM:224410
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Short stature, Osteoporosis, Delayed puberty, Pathologic fracture	ORPHA:77293
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,...	OMIM:614091
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
Basilar Impression, Primary	Kyphoscoliosis, Short neck	OMIM:109500
Williams-Beuren Syndrome	Hallux valgus, Osteopenia, Joint laxity, Short stature, Down-sloping shoulders, Kyphoscoliosis, F...	OMIM:194050
Infantile Nephropathic Cystinosis	Growth delay, Rickets	ORPHA:411629
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat acetabular roo...	OMIM:616300
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Short stature, Osteoporosis, Hip dysplasia, Scoliosis	ORPHA:438213
Oculocerebrorenal Syndrome Of Lowe	Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip dislocation, Gen...	ORPHA:534
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Scoliosis	ORPHA:99956
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Short stature, Kyphoscoliosis, Short neck, Avascular necrosis of...	ORPHA:2044
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis, Delayed puberty	ORPHA:91347
Dyskeratosis Congenita, X-Linked	Intrauterine growth retardation, Osteoporosis, Short stature	OMIM:305000
Hardikar Syndrome	Growth delay, Osteoporosis, Thoracolumbar scoliosis, Short stature	OMIM:301068
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Growth delay, Delayed puberty	ORPHA:79408
Williams Syndrome	Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of...	ORPHA:904
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Gr...	ORPHA:667
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pubi...	OMIM:617925
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short stature, Joint stiffness, Short neck, Short toe, Limitat...	OMIM:139210
Severe Generalized Junctional Epidermolysis Bullosa	Growth delay, Osteoporosis, Abnormal fingertip morphology	ORPHA:79404
Incontinentia Pigmenti	Short stature, Hemivertebrae, Kyphoscoliosis	OMIM:308300
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Growth delay, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Cystic Fibrosis	Osteopenia, Osteoporosis	ORPHA:586
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Osteolysis	ORPHA:79277
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis	ORPHA:171
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Kyphoscoliosis, Joint stiffness	OMIM:618820
46,Xy Partial Gonadal Dysgenesis	Osteoporosis, Delayed puberty	ORPHA:251510
Cystinosis, Nephropathic	Short stature, Metaphyseal widening, Rickets, Genu valgum, Growth delay, Delayed puberty, Hypopho...	OMIM:219800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Joint laxity, Kyphoscoliosis, Synostosis involving the 1st metacarpal, Delayed pub...	ORPHA:466791
Congenital Disorder Of Glycosylation, Type Iiw	Osteoporosis, Scoliosis	OMIM:619525
Lysinuric Protein Intolerance	Osteopenia, Pathologic fracture, Osteoporosis	ORPHA:470
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi...	ORPHA:573278
Cushing Disease	Vertebral compression fracture, Osteoporosis	ORPHA:96253
Multiple Endocrine Neoplasia Type 2	Joint laxity, Kyphoscoliosis, Hyperlordosis	ORPHA:653
Non-Acquired Panhypopituitarism	Osteopenia, Pituitary dwarfism, Short stature, Growth delay, Delayed puberty, Osteoporosis of ver...	ORPHA:90695
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Disproportion...	OMIM:619479
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Short stature, Kyphoscoliosis, Tapered finger, Short neck, Genu valgum, Radial deviation of finge...	OMIM:309580
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Osteoporosis of verte...	ORPHA:95494
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Growth delay, Short cla...	OMIM:309800
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Short stature, Rhizomelia, Sacr...	OMIM:180700
Neurofibroma	Spinal canal stenosis, Kyphoscoliosis	ORPHA:252183
Pallister-Killian Syndrome	Sacral dimple, Congenital hip dislocation, Rhizomelia, Kyphoscoliosis, Mesomelic/rhizomelic limb ...	OMIM:601803
Ring Chromosome 7 Syndrome	Short stature, Prominent crus of helix, Small hand, Genu valgum, Short 5th finger, Severe intraut...	ORPHA:1449
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Stippled calcification of the shoulder, A...	ORPHA:51608
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Long fingers, Osteoporosis...	ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion	Vertebral compression fracture, Osteoporosis	ORPHA:99889
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Osteomalacia	OMIM:619381
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone...	OMIM:617088

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 Crtap

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 Crtap.

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

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
Crtap^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us