Gene: Ank MGI:3045421

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

progressive ankylosis

Synonyms:

D15Ertd221e

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 Ank 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 Ank (4 diseases)
Human diseases predicted to be associated with Ank (1213 diseases)

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

Disease	Matching phenotypes	Source
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Calcification of cartilage, Joint swelling, Arthritis, Oste...	ORPHA:1416
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Sensorineural hearing impairment, Osteo...	ORPHA:1522
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Cranial hyperos...	OMIM:123000

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

Disease	Matching phenotypes	Source
Genochondromatosis Type 1	Abnormality of the knee, Multiple enchondromatosis	ORPHA:85197
Calcification Of Joints And Arteries	Tibial arterial calcification, Ectopic ossification, Femoral arterial calcification, Iliac arteri...	OMIM:211800
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Ankle pain, Chondritis, Osteochondritis dissecans...	ORPHA:563991
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of...	ORPHA:566943
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction	ORPHA:2380
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Hereditary Arterial And Articular Multiple Calcification Syndrome	Coronary artery calcification, Arterial calcification, Abnormal vascular morphology, Arterial tor...	ORPHA:289601
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Arterial Calcification, Generalized, Of Infancy, 1	Arterial stenosis, Hypophosphatemic rickets, Carotid artery calcification, Renal artery stenosis,...	OMIM:208000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva...	OMIM:618363
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Hypophosphatasia, Adult	Chondrocalcinosis, Rickets, Carious teeth, Osteomalacia, Pathologic fracture, Premature loss of p...	OMIM:146300
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnorma...	ORPHA:99642
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle clonus, Gait distur...	OMIM:611225
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Ankle pain,...	ORPHA:93308
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a...	OMIM:614823
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Reduced arm span, Genu valgum, Myopathy, Bilateral coxa valga, Abnormality of the knee, Genu varu...	ORPHA:166002
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr...	ORPHA:93284
Osteosclerotic Metaphyseal Dysplasia	Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase...	OMIM:615198
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Irregular epiphyses, Tooth agenesis, Smal...	OMIM:600204
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Delayed sk...	ORPHA:2501
Pfeiffer-Palm-Teller Syndrome	Joint stiffness, Enamel hypoplasia	ORPHA:2871
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Osteogenesis Imperfecta, Type V	Osteopenia, Dentinogenesis imperfecta, Anterior radial head dislocation, Joint hypermobility, Lim...	OMIM:610967
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Failure to thr...	ORPHA:337
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Multiple enchondromatosis, Delayed skeletal matu...	ORPHA:85198
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Difficulty walking, Sclerotic vertebral endplates, Flattened epiph...	OMIM:208230
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, An...	OMIM:132400
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the el...	ORPHA:2619
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Eng-Strom Syndrome	Scoliosis, Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Short thumb, Broad hallux, Premature osteoarthritis, Lumbar hyperlordosis, Os...	OMIM:165800
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera...	ORPHA:3416
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Limitation of joint mobility, Pathologic fracture, Abnormal cortical b...	ORPHA:166277
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod...	ORPHA:429
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o...	ORPHA:90650
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Broad-based gait, Kyphosis, Tip-toe gait, Lower limb mus...	OMIM:615290
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l...	OMIM:600175
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Micrognathia, Short neck, Torticollis, Hip disloc...	ORPHA:75840
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G...	ORPHA:2790
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr...	ORPHA:93307
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Thoracic kyp...	OMIM:203550
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Scoliosis, Dental malocclusion, Kyphosis, Delaye...	ORPHA:61
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Generalized morning stiffness, Constrictive pericarditi...	OMIM:208250
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Osteochondritis Dissecans	Limitation of joint mobility, Limited elbow flexion, Abnormal joint morphology, Joint stiffness, ...	ORPHA:2764
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri...	ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Hall-Riggs Syndrome	Platyspondyly, Kyphosis, Failure to thrive, Delayed skeletal maturation, Thick lower lip vermilio...	OMIM:234250
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Kyphosis, Myopathy, Elevated circulating creatine...	OMIM:616471
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Short 1st metacarpal, Abnormal epiphysis morphology, Delayed skeletal maturat...	ORPHA:63442
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Epiphyseal dysplasia, Irregular epiphyses, Mildly elevated creat...	OMIM:600969
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Retrognathia, Inability to walk, Gait ataxia, Enamel hypoplasia, Ataxia, High palate	OMIM:617915
Pyle Disease	Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis...	OMIM:265900
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis morph...	ORPHA:93351
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Generaliz...	OMIM:277950
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Micrognathia, Bowing of th...	ORPHA:628
Mucopolysaccharidosis, Type Ix	Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Ankle pain, Recurrent otitis media, Wris...	OMIM:601492
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormality of the dentition, Mandibular osteomyelitis, Abnormal ...	ORPHA:53
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Short philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta	ORPHA:71267
Hip Dysplasia, Beukes Type	Scoliosis, Abnormal epiphysis morphology, Broad femoral neck, Kyphosis, Abnormality of the epiphy...	ORPHA:2114
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal...	ORPHA:85435
Dentin Dysplasia	Abnormal dental enamel morphology, Increased bone mineral density, Abnormal dental morphology	ORPHA:1653
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Short stepped shuffling gait, Limited hip movement, Abnormal femoral neck/hea...	ORPHA:86820
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Capitate-hamate fusion, Broad femoral neck, Hypoplastic sacrum, Upper limb undergr...	OMIM:271650
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Lower limb asymmetry, Flexion contracture	OMIM:166700
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Abnormal blood ...	OMIM:619795
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Multiple Epiphyseal Dysplasia Type 5	Difficulty walking, Premature osteoarthritis, Limited hip movement, Genu valgum, Intervertebral d...	ORPHA:93311
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Delayed eruption of teeth, Bo...	OMIM:613849
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low...	ORPHA:93356
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Osteogenesis Imperfecta, Type Xiii	Decreased body weight, Arachnodactyly, Dislocated radial head, Wide distal femoral metaphysis, Fe...	OMIM:614856
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Osteopenia, Flared metaphysis, Large fleshy ears, Decreased fibular diameter, Micro...	OMIM:616897
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific...	OMIM:259440
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, ...	ORPHA:166272
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
48,Xyyy Syndrome	Male hypogonadism, Long philtrum, Thick lower lip vermilion, Azoospermia, Radioulnar synostosis, ...	ORPHA:99329
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals	OMIM:269630
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Flynn-Aird Syndrome	Carious teeth, Progressive sensorineural hearing impairment, Joint stiffness, Increased bone dens...	OMIM:136300
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Vertebral wedging, Bowing of the arm, Biconcav...	OMIM:301014
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Bone pain, Sclerosis of sku...	OMIM:602080
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Acromesomelic Dysplasia, Maroteaux Type	Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hyperm...	ORPHA:40
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske...	OMIM:602111
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Nail-Patella Syndrome	Decreased muscle mass, Abnormal tibia morphology, Contracture of the distal interphalangeal joint...	ORPHA:2614
Arteriosclerosis, Severe Juvenile	Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta	OMIM:208060
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Hypophosphate...	OMIM:277440
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Reduced bone mineral density, Decreased body weight, Brachydactyly, Short femoral neck,...	OMIM:618392
Nemaline Myopathy 7	Genu recurvatum, Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hype...	OMIM:610687
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Rickets, F...	OMIM:264700
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve...	OMIM:613982
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Coxa valga, Arthritis, Hip dysplasia	OMIM:615612
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, We...	ORPHA:85408
Kienbock Disease	Limitation of joint mobility, Abnormality of the wrist, Osteochondritis dissecans, Osteoarthritis...	ORPHA:97332
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Genu valgum, Fibular bowing, Enamel hypomineralization, Hypophosphatemia, Abnormal ...	OMIM:307800
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Bifid uvula, Aplasia of the distal phalanx of the 5th toe, Kyphos...	OMIM:618658
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Craniosynostosis, Increased bone mineral density, Hearing impairment	ORPHA:178377
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Beaking of vertebral bodies, Pierre...	OMIM:215150
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Accelerat...	OMIM:190350
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Short femoral neck, Ab...	ORPHA:94068
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Wild Type Abeta2M Amyloidosis	Abnormality of the thenar eminence, Abnormal tendon morphology, Abnormal shoulder morphology, Art...	ORPHA:85446
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa...	OMIM:271530
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ...	ORPHA:763
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Micrognathia, Delayed patellar ossification, Abnormal ...	ORPHA:163649
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Abnormal epiphysis morphology, Irregular epiphyses, Joint stiff...	ORPHA:1822
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasi...	OMIM:185800
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,...	OMIM:613717
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Hypophosphate...	ORPHA:89936
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Scoliosis, Skeletal muscle atrophy, Retrognathia, Difficulty walking, Inability t...	OMIM:611890
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Calcification of cartilage, Joint swelling, Arthritis, Oste...	ORPHA:1416
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Kyphosis, Inability to walk, Obesity, Lumbar hyperlordosis, Talipes equinovarus...	OMIM:616756
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Hearing impairment, Flared metaphysis, Failure to thrive, Pathologic fracture, Ost...	OMIM:259700
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal...	OMIM:186500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Slender build, Talipes equinovarus, Torticollis, ...	OMIM:254090
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ...	OMIM:248800
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Hearing impairment, Cortical sclerosis, D...	OMIM:122860
Cardiospondylocarpofacial Syndrome	Low-set ears, Cone-shaped epiphysis, Conductive hearing impairment, Failure to thrive, Delayed sk...	OMIM:157800
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morp...	ORPHA:3098
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Preaxial f...	ORPHA:1988
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Short finger, Sclerosis of skull base, Knee flexion contracture, Hip contracture, ...	OMIM:313420
Clark-Baraitser syndrome	Genu recurvatum, Scoliosis, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity,...	OMIM:300602
Frank-Ter Haar Syndrome	Genu recurvatum, Acne, Kyphosis, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffn...	ORPHA:137834
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis, Hearing imp...	OMIM:239100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Melorheostosis	Lower limb asymmetry, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, ...	ORPHA:2485
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Pelviscapular Dysplasia	Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ...	ORPHA:93333
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Abnormality of the dentition, Vertebral wedging, Elbow ...	OMIM:259450
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Knee os...	ORPHA:85438
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cortical sclerosis, Osteomyelitis,...	ORPHA:210110
Chst3-Related Skeletal Dysplasia	Rhizomelia, Delayed eruption of teeth, Long philtrum, Abnormal form of the vertebral bodies, Irre...	ORPHA:263463
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Conductive hearing impairment, Mandibular pain, Thickened...	OMIM:607634
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis, Malar flattening, Enlarged epiphys...	OMIM:184840
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Failure to thrive, Micrognathia, Hamstring contractures, Kyphoscol...	ORPHA:96183
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
Atelosteogenesis Type Ii	Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valg...	ORPHA:56304
Gaucher Disease, Type Iiic	Aortic valve calcification, Calcification of the aorta, Mitral valve calcification	OMIM:231005
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Bifid uvula, Platyspondyly, Joint stiffness, Irregular fem...	OMIM:108300
Laron Syndrome	Short toe, Delayed skeletal maturation, Delayed eruption of teeth, Tooth agenesis, Micrognathia, ...	ORPHA:633
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ...	ORPHA:970
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Conductive hearing imp...	OMIM:184460
Uruguay Faciocardiomusculoskeletal Syndrome	Joint contracture of the hand, Hyperplasia of the maxilla, Difficulty walking, Limited elbow move...	OMIM:300280
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Hearing impairment, Joint stiffness, Femoral bowing, Bowing of the ...	ORPHA:1860
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Abnormal palate morphology, Radioulnar synostosis, G...	ORPHA:3270
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Malar flattening, Short ribs, Generalized osteoscler...	OMIM:215045
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Microg...	OMIM:112240
Familial Bicuspid Aortic Valve	Aortic valve calcification, Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of ao...	ORPHA:402075
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tip-toe gait, Knee flexion contracture, Kyphoscoliosis, ...	ORPHA:496689
Achondroplasia	Rhizomelia, Conductive hearing impairment, Radial bowing, Flared metaphysis, Recurrent otitis med...	OMIM:100800
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Sensorineural hearing...	ORPHA:440354
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Mandibular prognathia, Clinodactyly, Retrognathia, Scoliosis, Ina...	OMIM:615547
Osteogenesis Imperfecta, Type Xi	Osteopenia, Dentinogenesis imperfecta, Vertebral wedging, Increased susceptibility to fractures, ...	OMIM:610968
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Sandal gap, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Coarse metaphyseal trabecularization, Joint dislocation, Osteomalac...	ORPHA:93160
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs due to mult...	OMIM:259420
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Avascular necrosis of the capital femoral epip...	OMIM:184100
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Acne, Abnormal vertebral morphology, Inflammation of the large intestine, Craniofacial osteoscler...	ORPHA:324964
Ankylosing Vertebral Hyperostosis With Tylosis	Palmoplantar keratoderma, Abnormality of the vertebral column, Obesity, Osteoarthritis, Abnormal ...	ORPHA:2206
Mucopolysaccharidosis Type 4	Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Joint dislocation, Delayed skel...	ORPHA:582
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec...	OMIM:253000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Tip-to...	OMIM:606612
Proximal Symphalangism	Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, Finger...	ORPHA:3250
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist,...	ORPHA:1657
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Retrognathia, Micrognathia, Short neck, Camptodactyly, High palate, Rock...	OMIM:618393
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Clinodactyly, Delayed skeletal maturation, Retrog...	ORPHA:557003
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
X-Linked Intellectual Disability, Stocco Dos Santos Type	Talipes equinovarus, Congenital bilateral hip dislocation, Kyphosis, Small for gestational age	ORPHA:85288
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Genu valgum, Micrognathia, Myopathy, Short neck, ...	ORPHA:171436
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, Osteoarthritis, Gl...	ORPHA:166100
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Obesity, Foot dorsiflexor weakness, Loss of ambulation, Split hand, Ataxia, ...	OMIM:618124
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Hypogonadism, Joint hypermobility, Cubitus valgus, Gait disturbance, Kyphosis	ORPHA:1875
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Hearing impairment, Failure to thrive, Recurrent fractures, Short ...	OMIM:239000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp...	OMIM:271600
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P...	ORPHA:1106
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me...	OMIM:612350
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic rickets, Bone pain	OMIM:193100
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Genu valgum, Micrognathia, Fibular...	OMIM:613848
Seckel Syndrome 1	Ivory epiphyses, Dental malocclusion, Sandal gap, Delayed skeletal maturation, Hypoplasia of prox...	OMIM:210600
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Kyphosis, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Hypophosphatasia, Childhood	Carious teeth, Elevated plasma pyrophosphate, Bowing of the legs, Premature loss of primary teeth...	OMIM:241510
Glycoprotein Storage Disease	Gout	OMIM:232900
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Small for gestational age, Delayed skeletal maturation, Pes cavus, Incr...	OMIM:616943
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Obesity, Short neck, Enamel hypoplasia, Brachydactyly, Osteoporosis, S...	OMIM:612463
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Finger joint contracture, Malar prominence, Micrognathia, Dysmetria, Hypogonadotropic hypogonadis...	ORPHA:48431
Atelosteogenesis Type I	Low-set ears, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micro...	ORPHA:1190
3M Syndrome	Decreased fertility, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of ...	ORPHA:2616
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes e...	OMIM:108720
Metatropic Dysplasia	Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Ca...	ORPHA:2635
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Difficulty walking, Foot dorsiflexor weakness, Talipes equinovarus, Scoliosis, Lower li...	OMIM:617087
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Delayed eruption of teeth, Short finger, Hypogonadism, Hypocalcemic...	OMIM:103580
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Kyphosis, Talipes equinovarus, Short foot, Scoliosis, Hip dislocation	OMIM:300434
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Sensorineural hearing impairmen...	ORPHA:289176
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Malar flattening, Abnormal digit morp...	OMIM:300831
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular...	OMIM:612447
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact...	ORPHA:536467
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal...	OMIM:128980
Cockayne Syndrome Type 2	Male hypogonadism, Widely spaced primary teeth, Difficulty walking, Hypoplasia of the primary tee...	ORPHA:90322
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density	OMIM:190320
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation	OMIM:245650
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ...	OMIM:224300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Osteomalacia, Adrenal calcification, Cerebral calcificati...	ORPHA:51608
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98855
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Congenital hip dislocation, Skeletal muscle atrophy, Kyphosis, Overlapping finger...	OMIM:618291
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczematoid dermatitis, Failure to thrive, Narrow mouth, Facial myokymia, Ataxia, Hip dysplasia, K...	OMIM:620007
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Recurr...	OMIM:616507
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equino...	OMIM:114300
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia, Ataxia	OMIM:226750
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ...	ORPHA:90653
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Decreased muscle mass, Increased circulating ferritin concentrat...	ORPHA:465508
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased muscle mass, Patellar subluxation, Everted lower lip vermilion, Thoracolumbar scoliosis...	ORPHA:3041
Arterial Calcification, Generalized, Of Infancy, 2	Coronary artery calcification, Hypophosphatemic rickets, Arterial calcification	OMIM:614473
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Joint hypermobility, Arachnodactyly, Gait disturbance, Adducted thumb, Shoul...	ORPHA:2181
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Delayed eruption of teeth, Hypogonadism, Hypocalcemic tetany, Obesity, Hypocal...	OMIM:612462
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur...	ORPHA:77297
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Symphalangism of the thumb, Cupped ear, Short toe, Clinodactyly, Broad hallux, Hear...	OMIM:620494
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Kyphomelic Dysplasia	Low-set ears, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Pterygi...	OMIM:211350
Calciphylaxis	Ectopic ossification, Arterial calcification	ORPHA:280062
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet...	ORPHA:289157
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Heari...	ORPHA:1782
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Single transverse palmar...	ORPHA:178148
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Retrognathia, Eczematoid dermatitis, Kypho...	ORPHA:352490
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Anodontia, Oligodontia, Everted lower lip vermilion, Large hands, Scoliosis, Kyphosis, T...	ORPHA:276630
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Muscular dystrophy, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walki...	OMIM:607155
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Difficulty walking, Hallux valgus, Gait disturbance, Everte...	ORPHA:505652
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98863
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Ataxia, B...	OMIM:253010
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Myopathy, Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, ...	OMIM:618323
Progressive Osseous Heteroplasia	Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly, Osteoarthriti...	ORPHA:2762
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Recurrent pneumonia, Dental malocclusion, Delayed skeletal matura...	OMIM:619293
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Kyphosis, Radial bowing, Slender long bone,...	OMIM:610915
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Kyphosis, Limited elbow extension, Short foot, Short met...	OMIM:180870
Wilson Disease	Proximal muscle weakness in lower limbs, Hepatitis, Failure to thrive, Pathologic fracture, Diffi...	ORPHA:905
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Delayed skeletal maturation, Joint stiffness, Bilateral single tran...	ORPHA:1548
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental ...	ORPHA:2916
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Broad-based gait, Open bite, Cachexia, Short neck, High palate, Short...	ORPHA:85293
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowin...	OMIM:608728
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Failure to thrive, Joint swelling, Osteolytic defects of ...	OMIM:228000
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:602390
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, High iliac wing, Coarse metaphyseal trabecularization, Delayed eruption of teeth, R...	ORPHA:2780
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98853
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared...	ORPHA:93352
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Cra...	OMIM:259710
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Snijders Blok-Campeau Syndrome	Broad-based gait, Widely spaced teeth, Joint hypermobility, Taurodontia, Enamel hypoplasia, Unste...	OMIM:618205
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bone pain, Enlarg...	OMIM:600081
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Otitis media, Skin rash, Clinodactyly of the 5th toe, Arthritis, Si...	ORPHA:229717
Familial Expansile Osteolysis	Conductive hearing impairment, Pathologic fracture, Thin bony cortex, Osteolysis, Bone pain	OMIM:174810
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	OMIM:604250
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th...	ORPHA:1798
Rheumatoid Arthritis	Digital flexor tenosynovitis, Rheumatoid arthritis, Polyarticular arthritis, Joint stiffness, Int...	OMIM:180300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ...	OMIM:143095
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple...	OMIM:166220
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Small for gestational age, Short tibia, Sandal gap, Failure to thrive, Hypocalcemia, ...	OMIM:607143
Arthrogryposis, Distal, Type 5	Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista...	OMIM:108145
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Bilateral single transverse palmar creases, Gait disturbance, Ataxia, Short philtrum, Scoliosis, ...	ORPHA:85317
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Talipes equinovarus, Enamel hypoplasia, Everted lower lip vermilion, Hy...	OMIM:619980
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of ...	ORPHA:457395
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe...	ORPHA:3145
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Wieacker-Wolff Syndrome, Female-Restricted	Radial deviation of the hand, Microretrognathia, Downturned corners of mouth, Long philtrum, Kyph...	OMIM:301041
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increased bone density with cy...	ORPHA:94089
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Congenital sensorineural hearing impairment, Micrognathia, Clinodactyly of the 5th finger, Decrea...	OMIM:617306
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Enamel hypoplasia, Abnormality of dental color	ORPHA:251393
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Knee flexion contracture, Arthritis, Elevated circulating C-reactive p...	OMIM:604416
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Failure...	OMIM:610758
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration, Skin rash, Oral ulcer, Synovitis, Glomerulonephrit...	ORPHA:567544
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Difficulty walking, Talipes equinovarus, Increase...	OMIM:617114
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Micrognathia, Narrow mouth, Wide mouth, Decreased palmar creases, Deep philtrum, Thick ...	OMIM:615834
Osteoarthritis Susceptibility 2	Heberden's node, Osteoarthritis	OMIM:140600
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Kyphosis, Talipes equinovarus...	OMIM:255200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Scoliosis, Periodontitis, Short toe, Retrog...	OMIM:619269
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Joint hypermobi...	OMIM:619184
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Joint hypermobility...	OMIM:166200
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Mic...	OMIM:616294
Ehlers-Danlos Syndrome, Hypermobility Type	Loss of ambulation, Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Bruck Syndrome	Platyspondyly, Kyphosis, Pterygium, Joint stiffness, Bowing of the long bones, Talipes equinovaru...	ORPHA:2771
Central Core Disease	Congenital hip dislocation, Nemaline bodies, Abnormal circulating creatine kinase concentration, ...	ORPHA:597
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Widely spaced toes, Cervical spinal...	OMIM:301900
Wieacker-Wolff Syndrome	Broad alveolar ridges, Distal amyotrophy, Scoliosis, Retrognathia, Long philtrum, Kyphosis, Micro...	OMIM:314580
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Joint dislocation, Retrognathia, Osteomalacia, Abnormal joint morphology, Jo...	ORPHA:1901
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Joint hypermobility, Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, ...	OMIM:620080
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Periapical tooth abscess, Enamel hypomineralization, Tau...	ORPHA:3352
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Mandibular prognathia, Sandal gap, Thick lower lip vermilion, Hypogonadism, Distal lo...	OMIM:300354
Hyperparathyroidism, Transient Neonatal	Low-set ears, Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short r...	OMIM:618188
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Delayed skeletal maturation, Enamel h...	ORPHA:2643
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Short toe, S...	OMIM:607095
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia	OMIM:610947
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Kyphosis, Cervical spinal canal sten...	ORPHA:15
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Seckel Syndrome 5	Retrognathia, Delayed skeletal maturation, Selective tooth agenesis, Micrognathia, Oligodontia, H...	OMIM:613823
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Squared iliac bones, Knee dislocation, Micrognathia, Joint hypermobility, Cervical C2...	OMIM:618000
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviati...	OMIM:609128
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Narrow mouth, Congenit...	OMIM:265000
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Crisponi Syndrome	Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth,...	ORPHA:1545
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t...	OMIM:619797
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Sensorineural hearing impairment, Osteo...	ORPHA:1522
Branchiooculofacial Syndrome	Low-set ears, Conductive hearing impairment, Short thumb, Hearing impairment, Preaxial hand polyd...	OMIM:113620
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Keratitis, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion ...	OMIM:272430
Orofaciodigital Syndrome Vi	Low-set ears, Toe syndactyly, Conductive hearing impairment, Clinodactyly, Radial deviation of fi...	OMIM:277170
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Limite...	OMIM:183900
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi...	OMIM:151050
Camurati-Engelmann Disease	Mandibular prognathia, Carious teeth, Hearing impairment, Slender build, Sclerosis of skull base,...	OMIM:131300
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis...	OMIM:231095
Homozygous Familial Hypercholesterolemia	Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot...	ORPHA:391665
Brittle Cornea Syndrome 1	Congenital hip dislocation, Dentinogenesis imperfecta, Spondylolisthesis, Joint hypermobility, Pa...	OMIM:229200
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Hypoplasia of the odontoid process, Short neck, Ataxia, Flattened epiphysis, High palate, Delayed...	OMIM:300232
Deafness-Ear Malformation-Facial Palsy Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A...	ORPHA:3232
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia,...	ORPHA:666
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Low-set ears, Amelia, Short femur	OMIM:601357
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scolio...	ORPHA:3454
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Pycnodysostosis	Aplastic clavicle, Carious teeth, Persistent open anterior fontanelle, Persistence of primary tee...	OMIM:265800
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Sydenham Chorea	Septic arthritis, Unsteady gait, Endocarditis	ORPHA:306731
Dystonia 31	Difficulty walking, Abnormal posturing	OMIM:619565
Pulmonary Alveolar Microlithiasis	Ectopic calcification, Gonadal calcification, Calcification of the aorta, Stippled calcification ...	ORPHA:60025
15Q24 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Kyphosis, Clinodactyly, Long philtrum, Thick lower lip ...	ORPHA:94065
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Stapes ankylosis, De...	ORPHA:90646
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Small hand, Shuffling gait, Male hypogonadism, Obesity, Micrognathia, Facial hypotonia, High pala...	OMIM:300055
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Micrognathia, Genu valgum, Hip contracture...	ORPHA:800
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Inability to walk, Multiple joint contractures, Hyperlordosis, Torticollis, F...	OMIM:128100
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Micro...	ORPHA:1234
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Micrognathia, Cleft soft palate, Metaphyseal dysplasia, A...	ORPHA:93316
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Kypho...	ORPHA:3121
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Stapes ankylosis, Enamel agenesis, 2-3 toe syndactyly, Radioulnar synostosis, Brach...	OMIM:614701
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Gait distu...	OMIM:617404
Diarrhea 5, With Tufting Enteropathy, Congenital	Small for gestational age, Failure to thrive, Arthritis	OMIM:613217
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr...	OMIM:620366
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Oral ulcer, Arthritis, Elevat...	OMIM:620321
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, E...	ORPHA:79444
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bone pain, Enlarg...	OMIM:241530
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Keratitis, Pun...	OMIM:226670
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Retrognathia, Short middle ph...	OMIM:618853
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Failure to thrive, Syndactyly	OMIM:226700
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Calcification of falx cerebri, Medial calcification of me...	OMIM:177850
Grant Syndrome	Joint dislocation, Abnormal cortical bone morphology, Joint hypermobility, Decreased skull ossifi...	ORPHA:2097
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Multiple Synostoses Syndrome 4	Tarsal synostosis, Otosclerosis	OMIM:617898
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, S...	OMIM:193700
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Bone pain	ORPHA:37748
Cole-Carpenter Syndrome	Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental ename...	ORPHA:2050
Congenital Myopathy 22A, Classic	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Microgna...	OMIM:620351
Joubert Syndrome 18	Retrognathia, Trident pelvis, Joint hypermobility, Bowing of the long bones, Talipes equinovarus,...	OMIM:614815
Contractural Arachnodactyly, Congenital	Micrognathia, Hip contracture, Arachnodactyly, Talipes equinovarus, Bowing of the long bones, Sho...	OMIM:121050
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Failure to thrive, Fasc...	ORPHA:39812
Raine Syndrome	Low-set ears, Mandibular prognathia, Natal tooth, Micromelia, Long hallux, Micrognathia, Malar fl...	OMIM:259775
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Genu valgum, Hypophosphatemic rickets, Hypoplasia of ...	OMIM:613312
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Thickened cortex of l...	OMIM:253250
Oculodentodigital Dysplasia	Broad alveolar ridges, Uveitis, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft uppe...	OMIM:164200
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ...	OMIM:619229
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Cerebral calcification, Calcification of the aorta, Multiple joint contractu...	ORPHA:51
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Broad-based gait, Kypho...	OMIM:181405
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Downturned corners of mouth, Difficulty walking, Obesity, Ataxia, Unsteady gait, Scolio...	ORPHA:464282
Richieri Costa-Da Silva Syndrome	Falls, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar ve...	ORPHA:3101
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph...	OMIM:615761
Masa Syndrome	Shuffling gait, Talipes equinovarus, Hyperlordosis, Adducted thumb, Kyphosis	OMIM:303350
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Gait disturbance, Everted lower lip vermilion, T...	ORPHA:2429
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia	OMIM:109130
Overlap Myositis	Proximal muscle weakness in upper limbs, Rheumatoid arthritis, Finger swelling, Perifascicular mu...	ORPHA:206572
Autosomal Dominant Hypophosphatemic Rickets	Bone pain, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Joint stiffness, Genu valgum, Claw hand deformity, Flared il...	OMIM:252605
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Small hand, Genu valgum, Micrognathia, Narrow mouth, Thoracolumbar scoliosis, Ataxia, High palate...	OMIM:618443
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Flared iliac wing, Ataxia, Anteri...	OMIM:230650
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