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Gene: Phospho1 MGI:2447348

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

phosphatase, orphan 1

Synonyms:

D11Moh36

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 Phospho1 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 Phospho1 (0 diseases)
Human diseases predicted to be associated with Phospho1 (1253 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Phospho1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:600081
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:241530
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag...	ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Recurrent fractures, Osteomalacia, Abnormal thorax morphology, Bone cyst, Genu var...	ORPHA:93160
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati...	OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B...	OMIM:300554
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap...	ORPHA:93307
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Sclerotic vertebr...	OMIM:615198
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona...	OMIM:620076
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract...	OMIM:615066
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:277440
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S...	ORPHA:79106
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond...	OMIM:619638
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatem...	ORPHA:79445
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical...	ORPHA:3416
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Short stature, Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Hypophosphatemic Bone Disease	Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia	OMIM:146350
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Short sta...	OMIM:614856
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B...	OMIM:300009
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Kyphoscoliosis, Osteoporosis, Hi...	OMIM:616507
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h...	OMIM:171480
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib...	OMIM:166210
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Radial bowing, Recurrent fractur...	OMIM:610915
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Pyle Disease	Metaphyseal dysplasia, Abnormal thorax morphology, Metaphyseal widening, Hypoplastic frontal sinu...	OMIM:265900
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Metatropic Dysplasia	Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli...	ORPHA:2635
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc...	OMIM:301014
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin...	OMIM:617952
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ...	OMIM:151210
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm...	OMIM:619795
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ...	ORPHA:83468
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo...	OMIM:617974
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Bone pain, Growth delay, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Autosomal Recessive Hypophosphatemic Rickets	Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypophosphatemic rickets, S...	ORPHA:289176
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor...	OMIM:184253
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Hypocalcemia, Hypophosphatemia, ...	OMIM:619073
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomelia, Du...	OMIM:156550
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Monosomy 5P	Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand,...	ORPHA:281
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Hypoplastic...	ORPHA:93315
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
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Barrel...	ORPHA:94068
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Flexion contracture, Scoliosis	OMIM:166700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Short stature, Craniosyno...	OMIM:616723
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short neck, Short toe, Osteoporosis, Short metatarsal, Obesity, ...	OMIM:103580
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid...	OMIM:619598
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Grant Syndrome	Bowing of the long bones, Short stature, Micrognathia, Abnormal rib morphology, Decreased skull o...	ORPHA:2097
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Ulnar bowing, Shortening of a...	OMIM:619135
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Micrognathia, Symphalangis...	ORPHA:628
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Short stature, Bowing of the legs, Metaphyseal scl...	OMIM:250400
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ...	ORPHA:319195
Ck Syndrome	Hyperactivity, Micrognathia, Aggressive behavior, Hyperlordosis, Kyphosis, Abnormal digit morphol...	OMIM:300831
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Re...	ORPHA:140
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal...	ORPHA:3268
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Delayed skeletal maturation, Osteoporosis, Short long b...	OMIM:602152
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Short neck, Osteoporosis, Obesity, Short metatarsal, Hyperphosph...	OMIM:612462
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Metaphyseal Anadysplasia	Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit...	ORPHA:1040
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st...	OMIM:231070
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Recu...	OMIM:616229
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Disproportionate short-limb short stature, Limited pronation/s...	DECIPHER:58
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Bone pain, Hypophosphatemia,...	OMIM:193100
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Generalized joint laxity, Irregular vertebral endplates, Short p...	OMIM:132400
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis o...	ORPHA:1901
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral...	OMIM:166220
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi...	ORPHA:2176
Shox-Related Short Stature	Short stature, Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, ...	ORPHA:314795
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis...	OMIM:618853
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ...	ORPHA:2741
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex	OMIM:174810
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus...	OMIM:259440
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnor...	ORPHA:1486
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Short stature, Kyphosis, Pectus carinatum, Reduced bone mineral densit...	OMIM:618392
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Short stature, Recurrent fractur...	OMIM:610967
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos...	OMIM:122860
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Short stature, Recurrent fractures, Crani...	ORPHA:2801
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contracture, Femoral bowi...	OMIM:601559
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Recurre...	ORPHA:1652
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Bea...	OMIM:616897
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Sho...	ORPHA:2484
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long...	ORPHA:1423
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling...	OMIM:101800
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr...	OMIM:600920
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Delayed skeletal maturation, S...	OMIM:241410
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ...	OMIM:613849
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Small for gesta...	OMIM:127000
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl...	ORPHA:53
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, A...	OMIM:241500
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hy...	ORPHA:436
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Sanjad-Sakati Syndrome	Short stature, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Delayed skeleta...	ORPHA:2323
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri...	ORPHA:1988
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ...	ORPHA:3409
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short statu...	ORPHA:79444
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor...	ORPHA:2583
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, Clinodactyly of th...	ORPHA:251028
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Osteomesopyknosis	Low back pain, Increased bone mineral density	OMIM:166450
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Short stature, Cortical subperiosteal resorption of h...	ORPHA:94089
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate ribs, Thin ribs, Femora...	OMIM:618188
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler...	OMIM:617994
Spondylometaphyseal Dysplasia, Corner Fracture Type	Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari...	OMIM:184255
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,...	ORPHA:2788
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Short neck, Abn...	ORPHA:163649
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv...	ORPHA:2370
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ...	ORPHA:1525
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il...	OMIM:215045
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco...	OMIM:615349
Momo Syndrome	Short stature, Large for gestational age, Short neck, Obesity, Femoral bowing, Large hands, Short...	ORPHA:2563
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Small for gestational age, Short stature, Slender long bones...	ORPHA:50811
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow vertebral interpedicular distan...	OMIM:250250
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column	OMIM:602475
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Abnormal enchondra...	ORPHA:93299
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Bone pain, Upper limb asym...	ORPHA:2485
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,...	ORPHA:93324
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormality of the...	ORPHA:356961
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me...	OMIM:259770
Marshall Syndrome	Radial bowing, Short stature, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Knee oste...	OMIM:154780
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph...	ORPHA:668
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scolios...	ORPHA:2611
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Single transverse palmar crease, Recurrent fractures, Postnatal growth retardation, D...	ORPHA:2324
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn...	ORPHA:666
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Br...	ORPHA:79443
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Neonatal Severe Primary Hyperparathyroidism	Narrow chest, Abnormal metaphysis morphology, Recurrent fractures, Short stature	ORPHA:417
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis...	OMIM:610968
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Abnormal repe...	OMIM:309000
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, Hyperextensibility of the kn...	OMIM:601812
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Hypercalcemia, Micro...	OMIM:156400
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy...	ORPHA:1782
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Oste...	ORPHA:2078
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,...	OMIM:619479
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Bone pain, Hypophosphatemia	OMIM:613388
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con...	ORPHA:1159
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Short stature, Delayed skeletal maturat...	OMIM:608154
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi...	OMIM:612447
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplasia of the bone...	ORPHA:562
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered fi...	ORPHA:157965
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of...	ORPHA:1765
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping...	OMIM:184250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi...	ORPHA:561
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact...	OMIM:613091
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys...	OMIM:600204
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Short neck, ...	ORPHA:1798
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H...	ORPHA:40
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ...	OMIM:618395
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short femur, Short stature, Short neck, Hypopla...	ORPHA:93333
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular vertebral endplates, M...	OMIM:618363
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, De...	ORPHA:85198
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Femoral bowing, Sh...	OMIM:617022
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndacty...	ORPHA:166024
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short t...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r...	OMIM:619345
Microcephaly-Micromelia Syndrome	Micromelia, Craniosynostosis, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnorma...	ORPHA:2633
Hypophosphatasia, Childhood	Short stature, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Rachitic rosary	OMIM:241510
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Inc...	ORPHA:52430
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Fe...	OMIM:615503
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto...	ORPHA:2804
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly	OMIM:603233
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Glass Syndrome	Restlessness, Hyperactivity, Arachnodactyly, Anterior tibial bowing, Short stature, Micrognathia,...	OMIM:612313
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Pycnodysostosis	Abnormal clavicle morphology, Micrognathia, Generalized osteosclerosis, Narrow chest, Hypoplastic...	ORPHA:763
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip di...	OMIM:605274
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve...	ORPHA:577
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit...	OMIM:226900
Liberfarb Syndrome	Delayed epiphyseal ossification, Metaphyseal striations, Short stature, Scoliosis	OMIM:618889
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat...	OMIM:609324
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A...	ORPHA:2639
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ...	OMIM:251450
Fanconi Renotubular Syndrome 3	Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth...	OMIM:615605
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Elevated circulating cr...	OMIM:614727
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of...	OMIM:609813
Congenital Disorder Of Glycosylation, Type Iiy	Delayed skeletal maturation, Hip subluxation, Scoliosis, Reduced bone mineral density	OMIM:620200
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Short stature, Bowing of the legs, Pectus excavatum, Disproportionate short...	ORPHA:156728
Fanconi Renotubular Syndrome 1	Short stature, Osteomalacia, Rickets, Hypokalemia, Hypophosphatemia	OMIM:134600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Bone cyst, Disinhibition	OMIM:618193
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Single transverse palma...	OMIM:269150
Achondrogenesis Type 1B	Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Sho...	ORPHA:93298
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp...	OMIM:609325
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c...	OMIM:119600
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo...	OMIM:131300
Pycnodysostosis	Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si...	OMIM:265800
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,...	ORPHA:1452
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Pes planus, Single transverse palmar crease, Impulsivity, Scoliosis, Clinodactyly of ...	OMIM:619717
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Polyphagia, Obesity	OMIM:618406
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Abnormal form of the vertebral bodies, Abnormal thora...	ORPHA:73230
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Large for gestational age, Micrognathia, Short neck, Flexion con...	ORPHA:96334
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Accelerated skeletal ...	OMIM:130070
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A...	ORPHA:1836
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Severe short stature, Micrognathia, Hyperlordosis, High iliac win...	ORPHA:2780
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti...	ORPHA:77297
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Ulna Metaphyseal Dysplasia Syndrome	Short stature, Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morpholo...	ORPHA:1837
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Ili...	ORPHA:239
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me...	OMIM:618476
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponatremia, ...	ORPHA:534
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli...	OMIM:230600
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Abnormality of the hand, Micrognathia, Lower limb asymmetry, Postnatal growth retarda...	ORPHA:576283
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Thin clavicles, Hypomagnesemia, Delayed skeletal mat...	OMIM:244460
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Bone pain, Recurrent fractures	ORPHA:329475
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Postnatal growth retardation, Rickets, Hypophosphatemia, Hypokalemia,...	OMIM:227810
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru...	ORPHA:2958
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor...	ORPHA:3206
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn...	ORPHA:95699
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Short stature, Coxa...	OMIM:616716
Hypergonadotropic Hypogonadism-Cataract Syndrome	Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner...	ORPHA:2410
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Pectus excavatum, Postnatal gr...	OMIM:616294
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate...	ORPHA:1354
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Short statur...	OMIM:617396
Proteus Syndrome	Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Cal...	OMIM:176920
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Hy...	ORPHA:63446
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus excavatum, Mul...	OMIM:271225
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced b...	ORPHA:18
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to...	ORPHA:2796
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta...	OMIM:612199
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ...	ORPHA:2050
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu...	OMIM:241600
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin...	OMIM:255800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Lumbar hyperlordosis, Kyphosis, Disproportionate short stature,...	OMIM:616482
Calciphylaxis	Ectopic ossification, Hyperphosphatemia	ORPHA:280062
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Accelerated skeletal maturation, Pectus carinatum, Knee dis...	OMIM:245600
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Hyperkalemia, E...	OMIM:620366
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat...	OMIM:222765
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ...	OMIM:201170
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay...	OMIM:620099
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Recurrent fractures, Microme...	OMIM:610682
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:3104
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Short stature, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ...	OMIM:611555
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph...	ORPHA:1328
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight...	OMIM:617306
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e...	OMIM:234250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Pes planus, Short stature, Camptodactyly of finger, K...	OMIM:612350
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va...	ORPHA:800
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Delayed skeletal maturation, Abnorm...	ORPHA:140976
Richieri Costa-Da Silva Syndrome	Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver...	ORPHA:3101
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Cubitus valgus, Flared metaphysis, Genu ...	OMIM:269300
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ...	OMIM:607143
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ...	OMIM:616809
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short stature, Wide distal femoral ...	OMIM:613320
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,...	ORPHA:168555
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K...	OMIM:313400
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis, Postnat...	OMIM:614732
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m...	ORPHA:1488
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Thoracolumba...	OMIM:252500
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
Familial Anetoderma	Generalized joint laxity, Lumbar hyperlordosis, Abnormal tibia morphology	ORPHA:228277
Nasu-Hakola Disease	Bone cyst, Limitation of joint mobility, Bone pain, Reduced bone mineral density, Disinhibition, ...	ORPHA:2770
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormality of the hand, Aggressive behavior, Abnormal foot morphology, Bone cyst, Inappropriate ...	OMIM:221770
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Growth delay, Hypophosphatem...	ORPHA:2088
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Generaliz...	ORPHA:536471
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip	ORPHA:314652
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Lumbar hy...	OMIM:602471
Mucolipidosis Iii Gamma	Short stature, Increased serum beta-hexosaminidase, Abnormality of the hand, Joint stiffness, Fla...	OMIM:252605
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Pectus excavatum, Pectus carinatum, Decreased calvarial ossification...	OMIM:259410
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ...	OMIM:123000
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Genu valgum	OMIM:618913
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Desbuquois Syndrome	Severe short stature, Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow dislocation, Sh...	ORPHA:1425
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Multiple Epiphyseal Dysplasia Type 5	Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica...	ORPHA:93311
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Insulin-Like Growth Factor I Deficiency	Osteopenia, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardation, Delayed ske...	OMIM:608747
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,...	OMIM:616300
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Bone pain, Hypermagnesemia, Hypophosphatemia	OMIM:600740
Smith-Mccort Dysplasia 2	Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho...	OMIM:615222
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr...	OMIM:602271
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Small ...	ORPHA:221008
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Hyp...	OMIM:617925
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Mannosidosis, Alpha B, Lysosomal	Increased vertebral height, Femoral bowing, Growth delay, Abnormal rib cage morphology, Pectus ca...	OMIM:248500
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor...	ORPHA:2658
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal...	OMIM:163200
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Anorexia, Kyphosis, Osteoarthritis, Delayed skeletal ...	ORPHA:77259
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Juberg-Hayward Syndrome	Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp...	ORPHA:2319
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Recurrent fractures, Single transverse palmar...	OMIM:309583
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Sclerotic verte...	OMIM:611490
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa...	ORPHA:667
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, Short phalanx of finger, Genu varum, Calcinosis, Short metacarpa...	ORPHA:221016
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,...	OMIM:226980
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Short stature, Intervertebral space narrowing, Micrognathia, ...	OMIM:614078
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne...	OMIM:277600
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r...	OMIM:600002
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density	ORPHA:3352
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Increased susceptibility to f...	ORPHA:3337
Cystinosis	Short stature, Rickets, Hypokalemia, Hypophosphatemia, Polydipsia, Failure to thrive, Abnormal re...	ORPHA:213
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Congenital knee dislocation, Abnormal ci...	ORPHA:319332
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Fail...	ORPHA:798
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Single transverse palmar crease, Short stature, Microgn...	ORPHA:73272
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Short stature,...	OMIM:605822
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polyda...	OMIM:258860
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Narrow chest, Hypophosphatemia, Polydipsia, Failu...	OMIM:239200
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:312150
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis...	OMIM:166300
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t...	ORPHA:3098
Maffucci Syndrome	Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Scoliosis, Dysphagia	ORPHA:163634
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Pectus excavatum, Osteoporosis, J...	ORPHA:1515
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility	OMIM:147060
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Bone pain, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia	OMIM:610539
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os...	OMIM:277900
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Short thorax, Genu valgum, Reduced bone mineral density, Spina bifida occulta	ORPHA:2983
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J...	ORPHA:90354
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Growth delay, Osteop...	OMIM:612301
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno...	ORPHA:177
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Brachydactyly Type A1	Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys...	ORPHA:93388
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ...	OMIM:249420
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ...	OMIM:612847
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr...	OMIM:616145
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Micrognathia...	OMIM:259775
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short neck, Osteoporosis, Obesity, Short metatarsal, Brachydactyly	OMIM:612463
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia	OMIM:211900
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Senior-Loken Syndrome	Cone-shaped epiphysis, Short stature, Abnormality of bone mineral density	ORPHA:3156
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Camptodactyly, Scoliosis, Dysphagia, Intrauterine grow...	OMIM:619751
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:253290
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi...	OMIM:609128
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Short stature	ORPHA:71267
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bottom foot, Small for ...	OMIM:201750
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ...	OMIM:618265
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi...	OMIM:193700
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Anorexia, Joint stiffness, Pectus excavatum, Kyphosis, Osteo...	ORPHA:394
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Polydipsia, Bone pain, Osteolysis, Weight loss, Ab...	ORPHA:35687
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Bone pain	ORPHA:37748
Prader-Willi Syndrome Due To Imprinting Mutation	Short stature, Narrow palm, Obesity, Small hand, Short foot, Abnormal ulnar metaphysis morphology...	ORPHA:177910
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Severe short stature, Rhizomelia, Failure to thrive in infancy, Cra...	ORPHA:2645
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Scoliosis, Hyperchol...	ORPHA:254531
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Sh...	OMIM:102500
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay	ORPHA:309031
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
12Q14 Microdeletion Syndrome	Short stature, Micrognathia, Osteopoikilosis, Scoliosis, Clinodactyly of the 5th finger, Intraute...	ORPHA:94063
Rin2 Syndrome	Pes planus, Increased susceptibility to fractures, Abnormal sternum morphology, Scoliosis, Joint ...	ORPHA:217335
Panner Disease	Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi...	ORPHA:97336
Three M Syndrome 1	Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida occulta, Sca...	OMIM:273750
Infantile Sialic Acid Storage Disease	Osteopenia, Conjugated hyperbilirubinemia, Abnormal foot morphology, Abnormal thorax morphology, ...	OMIM:269920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Anorexia, Rickets, Hypokalemia, Failure to thrive	OMIM:611590
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Vertebral compression fracture	ORPHA:85193
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Large for gestational age, Micrognathia, Cuboid-shaped vertebra...	OMIM:612731
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, ...	ORPHA:313855
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Short stature, Limited elbow movement, Joint stiffness, Micrognathia, Flexion ...	OMIM:614008
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Femoral bowing, Flared lower limb metaphysis, Decreased body weight,...	OMIM:616462
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Talipes, Recurrent fractures, Lower limb asymmetry, Upper limb asymmetry, Reduced bone mineral de...	ORPHA:137608
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short stature, Abnormal morphology of ulna, Short neck, Obesity, Abnormal metacarpal morphology	ORPHA:2233
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnorma...	ORPHA:2145
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Prader-Willi Syndrome	Osteopenia, Short stature, Small hand, Osteoporosis, Increased susceptibility to fractures, Short...	ORPHA:739
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short h...	ORPHA:2710
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Short stature, Broad femoral neck, Increased intervertebral space, Broad i...	OMIM:619727
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb...	OMIM:611209
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density	ORPHA:428
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Achill...	ORPHA:404454
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone-shaped epiphys...	OMIM:190350
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol...	OMIM:142900
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ...	ORPHA:1512
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Pectus carinatum, Wrist flexion c...	OMIM:121050
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility	OMIM:619115
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Progressive Familial Intrahepatic Cholestasis	Short stature, Delayed skeletal maturation, Reduced bone mineral density, Hypocalcemia, Failure t...	ORPHA:172
Gracile Bone Dysplasia	Failure to thrive, Short stature, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, ...	OMIM:602361
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne...	OMIM:608328
Xylt1-Cdg	Joint laxity, Pes planus, Short stature, Coxa valga, Accelerated skeletal maturation, Flared meta...	ORPHA:370930
Achondrogenesis	Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Sho...	ORPHA:932
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, ...	ORPHA:2463
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Werner Syndrome	Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Abnormal thor...	ORPHA:902
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures, Pectus carinatum	OMIM:618107
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red...	OMIM:112240
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Hypercalcemia, Rickets, Bone pain, Hypophosphatemia, Hypophosphatemic rickets, Rac...	OMIM:612089
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas...	ORPHA:83451
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Short stature, Micrognathia, Cranial hyperostosis, Flared metaphy...	OMIM:259720
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Del...	OMIM:606631
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Pectus carinatum, Narrow chest, Broad ribs, Jo...	OMIM:304150
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Decrea...	ORPHA:955
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration	OMIM:607748
Desmosterolosis	Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars...	ORPHA:35107
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, Metaphyseal...	OMIM:219800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation ...	ORPHA:3068
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Large for gestational age, Short ...	OMIM:239850
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Shwachman-Diamond Syndrome 1	Small for gestational age, Anterior rib cupping, Short stature, Ovoid vertebral bodies, Metaphyse...	OMIM:260400
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ...	ORPHA:66637
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Pes planus, Short stature, Down-sloping shoulders, Single transverse pal...	OMIM:616200
Seckel Syndrome 1	Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Clinodactyly of th...	OMIM:210600
Combined Oxidative Phosphorylation Deficiency 55	Short stature, Single transverse palmar crease, Elevated circulating creatine kinase concentratio...	OMIM:619743
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra...	OMIM:615220
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Increased serum beta-hexosaminidas...	OMIM:252600
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Mohr-Tranebjaerg Syndrome	Dysphagia, Intrinsic hand muscle atrophy, Increased susceptibility to fractures	OMIM:304700
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Short neck, Abnormal rib morphology,...	ORPHA:1703
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio...	ORPHA:583
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Short stature, Biconvex vertebral bodies, P...	ORPHA:353298
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Dysphagi...	ORPHA:171430
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Hyperactivity, Joint stiffness, Avascula...	ORPHA:581
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,...	ORPHA:1657
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib morphology, Short f...	ORPHA:488434
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe...	ORPHA:3082
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Small for gestational age, Micrognathia, Long hallux, Pectus carinatum...	OMIM:620194
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio...	ORPHA:1422
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, He...	OMIM:224690
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormali...	ORPHA:263463
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi...	ORPHA:958
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Osteochondritis Dissecans	Abnormality of the knee, Decreased hip abduction, Quadriceps muscle atrophy, Joint stiffness, Abn...	ORPHA:2764
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f...	ORPHA:2905
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Bone cyst, Knee osteoarthritis, Os...	ORPHA:2848
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint laxity, Microretrognathia, Short stature, Aggressive behavior, Short clavicles, Short 4th m...	OMIM:606220
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Dysphagia, Arthrogr...	ORPHA:171433
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Pes planus, Cachexia, Joint stiffness, Pectus excavatum, Micrognathia, Abnormal thorax morphology...	ORPHA:1979
Renal-Hepatic-Pancreatic Dysplasia 2	Talipes equinovarus, Femoral bowing	OMIM:615415
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Short stature, Reduced bone mineral density, Joint hyperflexibility, Slender lon...	ORPHA:1185
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Micrognathia, Pectus excavatum, Short neck, Hyperlor...	ORPHA:2522
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora...	OMIM:615633
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:615986
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, ...	ORPHA:500095
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e...	OMIM:164745
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint...	OMIM:212112
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Coxa valga, Delayed skeletal maturation, Genu valgum, Hypophosphatemic rickets, Ge...	OMIM:613312
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol...	ORPHA:793
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Abnormal ri...	ORPHA:2021
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Short stature, Conjugated hyperbilirubinemia, Rickets, Failure to thrive	OMIM:211600
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Bell-shaped thorax, Decreased calvarial oss...	OMIM:614592
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, 11 pairs of ribs, Sandal gap, Short stature, Pectus excavatum, Short toe, Delayed ske...	OMIM:617877
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Pes planus, Short stature, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,...	OMIM:212066
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Short stature, Diaphyseal sclerosis	OMIM:259730
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo...	ORPHA:2643
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short stature, Short neck, Flared metaphysis, Advanced ossification of carpal bones...	OMIM:610442
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ...	OMIM:183900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Conjugated hyperbilirubinemia, Earl...	OMIM:208500
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scolio...	ORPHA:2479
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2475
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Growth delay, Hyperbilirubinemia, Decreased body weight, Elevated circulating long...	OMIM:614886
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Metaphyseal dysplasia, Severe short stature, Micrognathia, Short neck, Scoliosis, Dec...	OMIM:618336
Hamamy Syndrome	Osteopenia, Syndactyly, Long toe, Down-sloping shoulders, Recurrent fractures, Craniosynostosis, ...	OMIM:611174
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor...	ORPHA:508488
Hypocalcemia, Autosomal Dominant 1	Short stature, Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, H...	OMIM:601198
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Down-sloping shoulders, Joint stiffness, Coxa valga, Micrognathia, Hyperl...	OMIM:248370
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Small hand,...	ORPHA:96184
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Abno...	OMIM:302960
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Paroxysmal bursts of laughter, Microretrognathia, Mesoa...	ORPHA:672
Aspartylglucosaminuria	Pes planus, Abnormal morphology of ulna, Joint stiffness, Delayed skeletal maturation, Pectus car...	ORPHA:93
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to...	OMIM:269500
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Abnormality of the hand, Aggressive b...	ORPHA:909
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Short stature, Single transverse palmar crease, Coxa valga...	OMIM:619297
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Short stature, Small for gestational age, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Renpenning Syndrome	Severe short stature, Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abn...	ORPHA:3242
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Pectus excavatum, Scoliosis, In...	OMIM:612940
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Congenital hip dislocation, Postnatal growth retardation, Increased susceptibility to...	ORPHA:357058
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca...	OMIM:182212
Refractory Celiac Disease	Osteoporosis, Weight loss, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypop...	ORPHA:398063
Three M Syndrome 2	Scapular winging, Severe short stature, Small for gestational age, Short stature, Lumbar hyperlor...	OMIM:612921
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Enlargement of the wrists, Large knee, Reduced bone mineral density	ORPHA:83629
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Temple Syndrome	Small for gestational age, Short stature, Postnatal growth retardation, Small hand, Obesity, Shor...	ORPHA:254516
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, Finger joint hypermobili...	OMIM:212720
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia, Increased body weight	ORPHA:94086
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Aggressive behavior, Flexion contracture, Gro...	ORPHA:17
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia	ORPHA:1237
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Intrauterine growth retardation, Recurrent fractures	OMIM:620368
Ivic Syndrome	Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,...	ORPHA:2307
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced b...	ORPHA:2235
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature...	OMIM:600373
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Wei...	OMIM:619381
Congenital Myopathy 15	Osteopenia, Joint hypermobility, Camptodactyly	OMIM:620161
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th...	ORPHA:51608
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn...	ORPHA:1865
46,Xx Gonadal Dysgenesis	Osteopenia, Arachnodactyly, Short stature, Delayed skeletal maturation, Reduced bone mineral dens...	ORPHA:243
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w...	OMIM:602535
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Short stature, Bowing of the legs, Coxa valga, Micrognathia, Metaphysea...	OMIM:617164
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathi...	ORPHA:263508
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Small for gestational age, Hypoplastic s...	OMIM:614813
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Osteopetrosis	OMIM:615085
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Short stature, Large for gestational age, Rickets, Hypophosphatemia	OMIM:616026
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Micrognathia, Abnormal foot mor...	OMIM:601390
Aggressive Systemic Mastocytosis	Anorexia, Osteoporosis, Osteolysis, Bone pain, Weight loss, Pathologic fracture	ORPHA:98850
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ...	ORPHA:1506
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Joint stiffness, Oral-pharyngeal dysphagia, Postnatal grow...	OMIM:619184
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Micrognathia, Kyphosis, Reduced bone mineral density, Vertebral segmentatio...	ORPHA:2617
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy...	OMIM:200980
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Pde4D Haploinsufficiency Syndrome	Micrognathia, Accelerated skeletal maturation, Short metatarsal, Irregular vertebral endplates, B...	ORPHA:439822
Marbach-Rustad Progeroid Syndrome	Femur fracture, Short stature, Micrognathia, Reduced bone mineral density, Growth delay, Short cl...	OMIM:619322
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Pe...	ORPHA:565
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hallermann-Streiff Syndrome	Recurrent fractures, Proportionate short stature, Micrognathia, Small hand, Reduced bone mineral ...	ORPHA:2108
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ...	ORPHA:2491
Mulibrey Nanism	Short stature, Single transverse palmar crease, Absent frontal sinuses, Hypoplastic frontal sinus...	OMIM:253250
Neuhauser Syndrome	Osteopenia, Pes planus, Genu recurvatum, Arachnodactyly, Short stature, Micrognathia, Genu valgum...	OMIM:249310
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Tarsal synostosis, Abnormal mo...	ORPHA:1307
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short...	ORPHA:2311
Roifman Syndrome	Hip contracture, Short metacarpal, Biconvex vertebral bodies, Short stature, Single transverse pa...	OMIM:616651
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Cardiofaciocutaneous Syndrome 3	Short stature, Short neck, Pectus excavatum, Reduced bone mineral density, Scoliosis, Failure to ...	OMIM:615279
Methylcobalamin Deficiency Type Cble	Syndactyly, Hypomethioninemia, Postnatal growth retardation, Osteoporosis, Hyperhomocystinemia, S...	ORPHA:2169
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Short stature, Single transverse palmar crease, Growth delay, Osteopetrosis, Intrauterine growth ...	OMIM:618541
Desmosterolosis	Failure to thrive, Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cho...	OMIM:602398
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Pes planus, Micrognathia, Short neck, Osteoarthrit...	OMIM:618000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Adamantinoma	Pathologic fracture, Bone pain, Hypercalcemia	ORPHA:55881
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Hy...	OMIM:617604
Intellectual Disability, Buenos-Aires Type	Short stature, Pectus carinatum, Reduced bone mineral density, Abnormal pelvic girdle bone morpho...	ORPHA:3079
Fatco Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen...	ORPHA:2492
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Talipes equinovarus, B...	OMIM:300990
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Scoliosis, Talipes equinovarus, Joint hypermobility, Increased susceptibility to fractures	OMIM:619752
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C...	ORPHA:251014
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos...	ORPHA:99845
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Dysphagia	OMIM:616867
Singleton-Merten Syndrome 2	Osteopenia, Scoliosis, Short stature, Osteolytic defects of the phalanges of the hand	OMIM:616298
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab...	ORPHA:163966
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Beta-Thalassemia Intermedia	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Reduced bone mineral density, Ab...	ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Postnatal growth retardation, Rickets, Hyperbilirubinemia, Abnorma...	ORPHA:79303
Hurler Syndrome	Hypoplasia of the femoral head, Short stature, Joint stiffness, Coxa valga, Hypoplasia of the odo...	OMIM:607014
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Narrow chest, Genu varum, Long toe, Short stature,...	OMIM:264090
Shprintzen-Goldberg Syndrome	Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio...	ORPHA:2462
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur...	OMIM:620232
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Broad palm, Short ...	OMIM:269860
Wilson Disease	Back pain, Abnormality of the hand, Aggressive behavior, Hypersexuality, Bone pain, Increased bod...	ORPHA:905
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Growth delay, Hypokalemia, Hypophosphatemia, Polydipsi...	ORPHA:411629
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Hypercalcemia, Recurrent fractures, Craniosynostosis, Obesity, Increased blood ure...	ORPHA:251004
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Arachnodactyly, Short stature, Coxa valga, Elbow dislocation, Metaphyse...	OMIM:620083
Lathosterolosis	Toe syndactyly, Micrognathia, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, ...	OMIM:607330
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Gaucher Disease, Type I	Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl...	OMIM:230800
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Sacral dimple, Mi...	OMIM:615546
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Increased susceptibility to fra...	ORPHA:216866
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Postnatal growth retardation, Hip dislocation, Talipes ...	OMIM:616603
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr...	OMIM:602531
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Chromosome 10Q26 Deletion Syndrome	Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transverse palmar crease, Cr...	OMIM:609625
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang...	OMIM:619269
Enlarged Parietal Foramina	Broad thumb, Short clavicles, Craniosynostosis	ORPHA:60015
Geleophysic Dysplasia 1	Osteopenia, Short stature, Camptodactyly of finger, Joint stiffness, Pectus excavatum, Coxa valga...	OMIM:231050
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,...	OMIM:225500
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Narrow chest, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal c...	OMIM:218330
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Hyperlordosis...	ORPHA:3130
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp...	ORPHA:94093
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Joint stiffness, Postnatal growth retardation, Reduced bone mineral density, Joint...	OMIM:620210
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis	ORPHA:2314
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, E...	ORPHA:584
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Abnormal odont...	OMIM:277300
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B...	OMIM:300373
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C...	OMIM:151050
Celiac Disease, Susceptibility To, 1	Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Hypocalcemia, De...	OMIM:212750
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short stature, Craniosynostosis, Accessory carpal bones, Joint ...	ORPHA:503
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Vertebral segmentation de...	ORPHA:531151
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Thickened ribs, Aggressive behavior, Joint stiffness, Ovoid thoracolumbar vertebra...	OMIM:252920
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Brachydactyly, Microretrognathia, Small for gestational age, Severe short...	OMIM:615789
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper...	ORPHA:96201
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Dy...	OMIM:252930
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense c...	OMIM:252900
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe...	ORPHA:91
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Failure to thrive, Rickets, Hypocholesterolemia	OMIM:607765
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Obesity, Hemivertebrae, Abnormal form of the vertebral bodie...	ORPHA:2180
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Cat-Eye Syndrome	Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature	ORPHA:195
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Palm...	OMIM:109400
Floating-Harbor Syndrome	Short neck, Humeral pseudarthrosis, Compulsive behaviors, Dislocated radial head, Short metacarpa...	ORPHA:2044
Congenital Disorder Of Glycosylation, Type Iib	Hand clenching, Overlapping fingers, Thoracic scoliosis, Recurrent fractures	OMIM:606056
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Short stature, Kyphoscoliosis, Pectus excavatum, K...	ORPHA:3063
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Micrognathia, Short neck, Limitation of joint mobility, A...	ORPHA:96061
H Syndrome	Hallux valgus, Pes planus, Hypertriglyceridemia, Short stature, Recurrent fractures, Delayed skel...	ORPHA:168569
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger, Dysphagia	OMIM:618367
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Rib fusion, Obesity, Hand polydactyly, Attention deficit hyperact...	ORPHA:261197
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Short stature, Ectrodactyly, Delayed puberty, Clinodactyly	OMIM:147950
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti...	OMIM:117650
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Small for gestational age, Short stature, Pectus excavatum, Delayed ske...	OMIM:613658
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Long toe, Short stature, 2-3 toe syndactyly, Atlantoaxi...	ORPHA:3455
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Hyperlipidemia, Flexion contracture, Growth delay, Progressive clavicular acroosteo...	OMIM:608612
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short...	OMIM:619698
Prader-Willi Syndrome	Osteopenia, Short palm, Syndactyly, Short stature, Acromicria, Osteoporosis, Obesity, Scoliosis, ...	OMIM:176270
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Long clavicles, Pectus excavatum, Limitation of joint mobility, Osteoporosis, Clubbin...	OMIM:259100
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Straight clavicles, Short clavicles...	OMIM:113300
Free Sialic Acid Storage Disease	Abnormal foot morphology, Abnormality of the upper limb, Failure to thrive in infancy, Reduced bo...	ORPHA:834
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavatum, 2-3 toe syndactyly...	OMIM:618162
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ...	ORPHA:2751
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Short thumb, Osteoporosis, Growth delay, Triphalangeal thu...	OMIM:612562
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Short stature, Joint stiff...	OMIM:619127
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ...	OMIM:612852
Silver-Russell Syndrome 3	Syndactyly, Small for gestational age, Elbow contracture, Short stature, Postnatal growth retarda...	OMIM:616489
Hurler Syndrome	Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j...	ORPHA:93473
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Hyperactivity, Restlessness, Short stat...	OMIM:252940
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, El...	ORPHA:355
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate...	OMIM:122600
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short ...	ORPHA:1797
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop...	ORPHA:3301
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Long palm, Tape...	ORPHA:2215
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stiffness, Abnormal rib mor...	ORPHA:2588
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small for gestational age, Short stature, Bulimia, Osteoporosis, Small hand, Obesity,...	ORPHA:98793
Kallmann Syndrome	Pes planus, Recurrent fractures, Delayed skeletal maturation, Obesity, Reduced bone mineral densi...	ORPHA:478
Prolidase Deficiency	Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma...	ORPHA:742
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-o...	OMIM:113500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small for gestational age, Short stature, Bulimia, Osteoporosis, Small hand, Obesity,...	ORPHA:98754
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl...	OMIM:617895
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small for gestational age, Short stature, Bulimia, Osteoporosis, Small hand, Obesity,...	ORPHA:177904
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, ...	OMIM:607944
Mandibuloacral Dysplasia	Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Postnatal growth...	ORPHA:2457
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small for gestational age, Short stature, Bulimia, Osteoporosis, Small hand, Obesity,...	ORPHA:177901
Kagami-Ogata Syndrome	Kyphoscoliosis, Coxa valga, Large for gestational age, Micrognathia, Postnatal growth retardation...	ORPHA:254519
Hallermann-Streiff Syndrome	Hyperactivity, Small for gestational age, Abnormality of the hand, Micrognathia, Pectus excavatum...	OMIM:234100
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Bone pain, Weight loss,...	ORPHA:29073
Dyskeratosis Congenita	Short stature, Recurrent fractures, Osteoporosis, Palmoplantar keratoderma, Scoliosis, Intrauteri...	ORPHA:1775
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth...	OMIM:618005
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperlipidemia, Osteoporosis, Increased body weight, Increased susceptibility to fractures, Abdom...	ORPHA:189427
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Large for gestational age, Micrognathia, Short neck, Hem...	OMIM:213980
Gaucher Disease Type 3	Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus...	ORPHA:77261
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Short stature, Camptodactyly of ...	ORPHA:3138
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca...	ORPHA:2554
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Osteolysis, Growth delay, Scoliosis, Avascular necrosis	ORPHA:1764
Pediatric-Onset Graves Disease	Hyperactivity, Craniosynostosis, Accelerated skeletal maturation, Intrauterine growth retardation...	ORPHA:525731
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation...	ORPHA:293843
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislo...	ORPHA:536532
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Delayed skeletal maturation, Abnormal rib morphology, Spina...	ORPHA:52
Adrenomyodystrophy	Delayed skeletal maturation, Failure to thrive, Short stature, Reduced bone mineral density	ORPHA:977
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus excavatum, Sh...	ORPHA:309282
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture	OMIM:174800
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Short neck, Humerora...	ORPHA:3404
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive	ORPHA:178029
Cinca Syndrome	Growth delay, Brachydactyly, Elevated circulating C-reactive protein concentration, Reduced bone ...	ORPHA:1451
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Parathyroid Carcinoma	Hypercalcemia, Osteoporosis, Bone pain, Dysphagia, Weight loss, Hypophosphatemia, Polydipsia	ORPHA:143
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Oral-pharyngeal dysphagia, Pectus excavatum, Postna...	OMIM:300966
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Short toe, L...	OMIM:225410
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Intrauterin...	OMIM:194190
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat...	OMIM:617913
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thin...	OMIM:608149
Hemorrhagic Fever-Renal Syndrome	Back pain, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitat...	ORPHA:340
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density	ORPHA:2720
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone pain, Weight loss, Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Cervical kyphosis, Tapered finger, Overweight, Short neck, Small hand, Short clavi...	ORPHA:401923
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria, Bone pain	OMIM:259900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Porphyria, Congenital Erythropoietic	Osteopenia, Short stature, Osteolysis, Elevated circulating uroporphyrin concentration, Pathologi...	OMIM:263700
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th...	ORPHA:904
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Short stature, Lumbar hyperlordosis,...	OMIM:169550
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ...	ORPHA:280
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine...	ORPHA:1556
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Postn...	ORPHA:254528
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Pectus excavatum, Postnata...	ORPHA:2962
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Abnormal blood zinc concentration, Craniosynostosis, Sh...	ORPHA:468699
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, T...	ORPHA:1120
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Short stature, Hyperglycerolemia, Osteoporosis, ...	OMIM:307030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Short stature, Hyperlipidemia, Osteoporosis, Gout, Increased su...	ORPHA:79259
Meier-Gorlin Syndrome 7	Joint laxity, 2-4 finger syndactyly, Short stature, Craniosynostosis, Sagittal craniosynostosis, ...	OMIM:617063
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperactivity, Sacral dimple, Rhizomelia, Short stature, Abnormal...	ORPHA:319182
Boomerang Dysplasia	Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Familial Cold Urticaria	Arthritis, Polydipsia	ORPHA:47045
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho...	ORPHA:3378
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Preaxial hand poly...	ORPHA:261318
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Asymmetry of the thorax, Disproportionate short-limb...	OMIM:618644
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Osteoporosis, Bone pain, Hypophosphatemia, Dysphagia, Polydipsia	ORPHA:99880
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Dislocated radial head	ORPHA:2975
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti...	ORPHA:1855
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab...	ORPHA:636
Oculomaxillofacial Dysostosis	Brachydactyly, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, ...	ORPHA:1794
Kbg Syndrome	Vertebral fusion, Syndactyly, Short stature, Single transverse palmar crease, Short neck, Delayed...	OMIM:148050
Monosomy 9Q22.3	Hyperactivity, Large for gestational age, Pectus excavatum, Palmar pits, Short neck, Plantar pits...	ORPHA:77301
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip...	OMIM:118650
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures	ORPHA:319487
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Short stature, Increased circulating ferritin concentration, ...	OMIM:222700
Stickler Syndrome	Bone pain, Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Short stature, Kyphosis, ...	ORPHA:828
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino...	ORPHA:84
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper...	ORPHA:470
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho...	ORPHA:1300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Tapered finger, Aggressive behavior, Abnormal repetitive mannerisms, Hyperlordosis, H...	OMIM:301066
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Hereditary Central Diabetes Insipidus	Growth delay, Polydipsia, Weight loss	ORPHA:30925
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal rib m...	ORPHA:1163
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Short stature, Short neck, Abnormal rib morphology, Obesity, Hemivertebrae, Ab...	ORPHA:2234
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Congenital hip dislocation, Short stature, Kyphoscoliosis, Pectus excavat...	ORPHA:2834
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Multiple prenatal fractures, Flexion contracture, Dysphagia, Arthrogryposis mu...	OMIM:616866
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S...	OMIM:263750
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Micrognathia, Missing ribs, Short neck, Abnormal rib morp...	ORPHA:1834
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Hyperactivity, Congenital hip dislocation, Short stature, Micrognathia, Re...	OMIM:617052
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co...	OMIM:603116
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Osteopetrosis With Renal Tubular Acidosis	Short stature, Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognat...	ORPHA:2785
Neuropathy, Hereditary Sensory And Autonomic, Type V	Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju...	OMIM:608654
3Mc Syndrome 2	Craniosynostosis, Limited elbow movement, Postnatal growth retardation, Hip dislocation, Radiouln...	OMIM:265050
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Pathologic fracture, Osteomyelitis	ORPHA:36386
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Delay...	ORPHA:85199
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Coxa valga, Accelerated skeletal maturation, Long fingers, Flexion cont...	OMIM:617561
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f...	ORPHA:54595
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Short stature, Abnormal odontoid process morphology, Missing r...	OMIM:613686
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures	ORPHA:97290
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bone pain, Failure to thrive	ORPHA:416
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Pectus excavatum, Abnorm...	ORPHA:2990
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:881
Primrose Syndrome	Flexion contracture, Knee flexion contracture, Reduced bone mineral density, Irregular vertebral ...	OMIM:259050
Richards-Rundle Syndrome	Reduced bone mineral density, Joint stiffness	ORPHA:1399
Radio-Renal Syndrome	Severe short stature, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal ri...	ORPHA:3015
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Bicarbonaturia, Reduced bone mineral density, G...	ORPHA:47159
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Short stature, Recurrent fractures, Joint hypermobility	OMIM:619120
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Lowe...	ORPHA:2092
3Mc Syndrome 1	Sacral dimple, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Short...	OMIM:257920
Whipple Disease	Hyponatremia, Anorexia, Cachexia, Pedal edema, Arthritis, Polydipsia	ORPHA:3452
Floating-Harbor Syndrome	Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Short stature, Osteomyelitis leading to amputation due to slow healing ...	OMIM:256810
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Sifrim-Hitz-Weiss Syndrome	Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck...	OMIM:617159
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Tibial Hemimelia	Absent tibia	OMIM:275220
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Short ...	OMIM:241200
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Charge Syndrome	Short stature, Talipes, Postnatal growth retardation, Abnormal tibia morphology, Abnormal rib mor...	ORPHA:138
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Compulsive behaviors, Clinodac...	ORPHA:199
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Short toe, 2-3 t...	OMIM:139210
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P...	OMIM:192350
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Hyperli...	ORPHA:77293
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Restrictive Dermopathy 2	Microretrognathia, Intrauterine growth retardation, Overtubulated long bones, Short clavicles	OMIM:619793
Aymé-Gripp Syndrome	Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Postnatal growth retardation...	ORPHA:1272
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Osteoporosis, Hip dis...	OMIM:182250
Beta-Thalassemia	Abnormality of iron homeostasis, Reduced bone mineral density	ORPHA:848
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Abnormal morphology of ulna, Short stature, Short neck, Pectus exca...	ORPHA:1340
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Impulsivity, Dysphagia	ORPHA:280195
Rabson-Mendenhall Syndrome	Short stature, Delayed skeletal maturation, Severe postnatal growth retardation, Hypokalemia, Pol...	ORPHA:769
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Bone pain, Addictive alcohol use, Rheumatoid arthritis, Avascular n...	ORPHA:399180
Keppen-Lubinsky Syndrome	Micrognathia, Postnatal growth retardation, Flexion contracture, Increased susceptibility to frac...	ORPHA:435628
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t...	ORPHA:1507
Werner Syndrome	Low back pain, Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Osteoporosis, Reduce...	OMIM:277700
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Scapular winging, Congenital hip dislocation, Pes planus, Short st...	OMIM:278250
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Incontinentia Pigmenti	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, ...	ORPHA:464
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Aggressive behavior, Accelerated skeletal maturation, Hyperlipidemia...	ORPHA:293987
Dermatitis Herpetiformis	Bone pain, Recurrent fractures	ORPHA:1656
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Gm1-Gangliosidosis, Type I	Severe short stature, Thickened ribs, Joint stiffness, Short neck, Kyphosis, Hypoplastic vertebra...	OMIM:230500
Trisomy 18	Microretrognathia, Short stature, Camptodactyly of finger, Cachexia, Abnormality of the lower lim...	ORPHA:3380
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Small for gestational age, Elbow contracture, Campt...	OMIM:208150
Restrictive Dermopathy 1	Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Ankylosis, Thin clavicl...	OMIM:275210
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Flexion contracture, Thin ribs, Decreased body weight, Mild short stature	OMIM:614833
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Pes planus, Overlapping toe, Reduced bone mineral density, Scoliosis, Clinodactyly of the 5th fin...	OMIM:616682
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Osteolysis, Increased susceptibility to fractures, Weight loss, Reduced ...	ORPHA:652
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Delayed skeletal maturation, Hyperhomocy...	OMIM:614857
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Pathologic fracture, Obesity	OMIM:614231
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Short stature, Hypophosphatemia	OMIM:308990
Zttk Syndrome	Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemiverte...	OMIM:617140
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles	OMIM:168550
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta...	OMIM:608681
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Impulsivity, Micrognathia, Aggressive behavior, Hyper...	ORPHA:73223
Cardiospondylocarpofacial Syndrome	Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha...	OMIM:157800
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab...	OMIM:214800
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t...	ORPHA:818
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax...	ORPHA:2753
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Aggressive behavior, Rib f...	ORPHA:544488
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral...	ORPHA:228123
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r...	ORPHA:50
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar ...	ORPHA:2907
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Short neck, Postaxial...	ORPHA:261112
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys...	ORPHA:97685
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Failure to thrive, Short stature, Hypernatremia	OMIM:125800
Shwachman-Diamond Syndrome 2	Short stature, Anterior rib cupping, Metaphyseal widening, Failure to thrive, Metaphyseal irregul...	OMIM:617941
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive, Short stature, Hypernatremia	OMIM:304800
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Short stature, Ky...	ORPHA:97360
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Pectus excav...	OMIM:613610
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck	ORPHA:2578
Nephrogenic Diabetes Insipidus	Short stature, Anorexia, Growth delay, Hypernatremia, Polydipsia, Failure to thrive	ORPHA:223
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Short stature, Rib fusion, Obesit...	ORPHA:1606
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Fabry Disease	Short stature, Anorexia, Hyperlipidemia, Abnormal femur morphology, Reduced bone mineral density,...	ORPHA:324
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi...	ORPHA:2750
Apparent Mineralocorticoid Excess	Short stature, Hypokalemia, Intrauterine growth retardation, Polydipsia, Failure to thrive, Decre...	ORPHA:320
East Syndrome	Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia	ORPHA:199343
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, P...	ORPHA:83617
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Short stature, Tapered fi...	OMIM:619841
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Abnormal rib morphology, Abnormality of the vertebral column, Spreng...	OMIM:601076
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Abnormal thorax morphology, Rhizomelic arm shorte...	ORPHA:508542
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Postnatal growth retardation, Rib fus...	OMIM:304050
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature...	OMIM:146510
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl...	ORPHA:2908
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Severe short stature, Hip dislocation, Pathologic fracture, Intrauterine growth ret...	ORPHA:90349
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr...	ORPHA:740
Cerebrocostomandibular Syndrome	Short stature, Micrognathia, Kyphosis, Posterior rib gap, Bell-shaped thorax, Clinodactyly of the...	ORPHA:1393
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Gitelman Syndrome	Salt craving, Growth delay, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polyd...	OMIM:263800
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Bilateral tal...	OMIM:617746
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Alkaptonuria	Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Thickened Achilles tend...	ORPHA:56
Brain-Lung-Thyroid Syndrome	Hyperactivity, Short stature, Abnormal eating behavior, Abnormal drinking behavior, Growth delay,...	ORPHA:209905
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia	ORPHA:403
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Dysphagia, Failure to thrive	OMIM:614688
Pearson Syndrome	Small for gestational age, Postnatal growth retardation, Dysphagia, Hypophosphatemia, Growth dela...	ORPHA:699
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Large for gestational age, Abnormality of the foot muscu...	ORPHA:169189
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Mowat-Wilson Syndrome	Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Abnormal repetitive mannerisms, ...	ORPHA:2152
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitation of joint ...	ORPHA:217085
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, ...	OMIM:208400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Ab...	ORPHA:500150
Fryns Syndrome	Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo...	OMIM:229850
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Short stature, Camptodactyly of finger, Flexion contracture, Limitation of joint ...	ORPHA:217093
Septo-Optic Dysplasia Spectrum	Polydipsia, Short stature, Obesity	ORPHA:3157
Familial Hyperaldosteronism Type Iii	Hypokalemia, Polydipsia	ORPHA:251274
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Small for gestational age, Short stature, Aggressive behavior, Postnatal gr...	OMIM:613355
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Short neck, Preaxial polydactyly, Short rib...	OMIM:616546
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone...	OMIM:617088
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Short stature, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Poly...	OMIM:612780
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi...	ORPHA:444077
Gitelman Syndrome	Salt craving, Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia, Failu...	ORPHA:358
Arima Syndrome	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydipsia, Growth delay	OMIM:243910
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Chromosome 1P36 Deletion Syndrome, Distal	Clinodactyly of the 5th finger, Self-mutilation, Oppositional defiant disorder, Delayed skeletal ...	OMIM:607872
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Polydipsia	ORPHA:369929
Lymphangiectasia, Intestinal	Prominent floating ribs, Neonatal hypoproteinemia, Pedal edema	OMIM:152800
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert...	OMIM:206900
Ochoa Syndrome	Polydipsia	ORPHA:2704
Cerebrofaciothoracic Dysplasia	Short stature, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest...	ORPHA:1394
Blue Rubber Bleb Nevus	Pathologic fracture	OMIM:112200
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Hypercholes...	OMIM:118450
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Wolfram Syndrome	Polydipsia, Delayed puberty, Joint stiffness	ORPHA:3463
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Short stature, Lower limb asymmetry, Preaxial h...	ORPHA:857
Oligomeganephronia	Elevated circulating creatinine concentration, Polydipsia, Small for gestational age, Micrognathia	ORPHA:2260
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Joint hyperflexibility, Polydipsia, Hyperuricemia, Arthritis	ORPHA:93111
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Polydipsia, Decreased circulating renin level	ORPHA:231580
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Large for gestational age, Postnatal growth retardation, Coat hanger s...	ORPHA:254534
Hereditary Fructose Intolerance	Growth delay, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Methanol Poisoning	Hyperlipidemia, Addictive alcohol use	ORPHA:31825
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Marchiafava-Bignami Disease	Addictive alcohol use, Aggressive behavior	ORPHA:221074
Dextrocardia	Abnormal foot morphology, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Panhypophysitis	Hyponatremia, Polydipsia	ORPHA:95513
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hypomagnesemia 3, Renal	Polydipsia, Failure to thrive, Hyperuricemia, Hypomagnesemia	OMIM:248250
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
Thauvin-Robinet-Faivre Syndrome	Pes planus, Large for gestational age, Bowing of the legs, Pedal edema, Large hands, Long foot, L...	OMIM:617107
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Aggres...	OMIM:309800
Teratoma, Pineal	Polydipsia	OMIM:273120
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive	OMIM:602522
Helix Syndrome	Hypokalemia, Polydipsia, Hypermagnesemia	OMIM:617671
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Acute Promyelocytic Leukemia	Bone pain, Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Nephronophthisis 4	Growth delay, Polydipsia	OMIM:606966
Acute Lung Injury	Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea...	ORPHA:178320
Senior-Boichis Syndrome	Aggressive behavior, Agitation, Attention deficit hyperactivity disorder, Polydipsia, Increased t...	ORPHA:84081
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia, Weight loss	ORPHA:537
Nephronophthisis 1	Growth delay, Polydipsia	OMIM:256100
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Avascular necrosis	ORPHA:91351
Nephronophthisis 11	Growth delay, Polydipsia	OMIM:613550
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive	OMIM:229600
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:36238
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Nephronophthisis 3	Polydipsia	OMIM:604387
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Addictive alcohol use	ORPHA:90065
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Micrognathia, Growth delay, Increased serum bile acid concentration, Polydipsia	ORPHA:731
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep...	ORPHA:57777
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration	OMIM:266900
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Ethylene Glycol Poisoning	Addictive alcohol use, Hyperkalemia, Hypocalcemia	ORPHA:31826
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Short stature	ORPHA:991

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 Phospho1

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 Phospho1.

No publications found that use IMPC mice or data for Phospho1.

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
Phospho1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Phospho1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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