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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 (1214 diseases)

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

Disease	Matching phenotypes	Source
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Calcification of cartilage, Chondro...	ORPHA:1416
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Sensorineural hearing impairment, Osteopetrosis, Conductive hearing im...	ORPHA:1522
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Metaphyseal widening, Cranial hyperostosis, Flar...	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	Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi...	OMIM:211800
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Osteochondrosis Of The Tarsal Bone	Antalgic gait, Foot pain, Arthritis, Tarsal sclerosis, Tarsal stippling, Ankle pain, Chondritis, ...	ORPHA:563991
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis...	ORPHA:566943
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction	ORPHA:2380
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene...	ORPHA:750
Hereditary Arterial And Articular Multiple Calcification Syndrome	Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor...	ORPHA:289601
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Carotid artery calcification, Ankylosis, Arterial stenosis, Genera...	OMIM:208000
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular...	OMIM:618363
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ...	ORPHA:99642
Metachondromatosis	Multiple enchondromatosis, Abnormal joint morphology	OMIM:156250
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis...	ORPHA:93308
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Inability to walk, Ankle clonus, High palate, Gait disturbance...	OMIM:611225
Aortic Valve Disease 2	Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,...	OMIM:614823
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Osteoarthritis, Coxa vara, Bilateral coxa valga, Arthralgia of the hip, Waddling gait, Genu varum...	ORPHA:166002
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Hyperext...	OMIM:610967
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Osteoarthritis, Metaphyseal widening, Coxa vara, Sclerotic verte...	OMIM:208230
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, A...	OMIM:132400
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Sensorineural heari...	ORPHA:3152
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Epiphyseal Dysplasia, Multiple, 2	Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Genu ...	OMIM:600204
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly	ORPHA:1937
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hype...	ORPHA:3416
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphys...	OMIM:177170
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Wormian bones, Pathologic fracture, Abnormal cortical bone morpholo...	ORPHA:166277
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Osteoarthritis, Abnormality o...	ORPHA:429
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Waddling gait, Lumbar hyperlordosis, Broad hallux, Accelerated skeletal ma...	OMIM:165800
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Congenital Muscular Dystrophy, Ullrich Type	Elevated circulating creatine kinase concentration, Micrognathia, Short neck, Flexion contracture...	ORPHA:75840
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Sensorineural heari...	ORPHA:2790
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Carious teeth, Flexion contract...	OMIM:203550
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Spinal muscular atrophy, Elev...	OMIM:615290
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap...	ORPHA:93307
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Open bite...	ORPHA:61
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Flattened metatarsal heads, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Kyphos...	OMIM:616471
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, Osteopor...	OMIM:234250
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Delayed skeletal maturation, Short 1st metacarpal, Joint hyperflexibil...	ORPHA:63442
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Knee ...	OMIM:600969
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fractures, Abnormality of the dentition...	ORPHA:53
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Ataxia, Inability to walk, Gait ataxia, High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil...	OMIM:601492
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Winchester Syndrome	Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,...	OMIM:277950
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Familial Avascular Necrosis Of Femoral Head	Limited hip movement, Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femora...	ORPHA:86820
Osteochondritis Dissecans	Abnormality of the knee, Decreased hip abduction, Joint stiffness, Abnormal joint morphology, Lim...	ORPHA:2764
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum	ORPHA:71267
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting...	ORPHA:628
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,...	OMIM:271650
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness, Lower limb asymmetry	OMIM:166700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ...	OMIM:619795
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Basal Ganglia Calcification, Idiopathic, Childhood-Onset	Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De...	OMIM:114100
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Multiple Epiphyseal Dysplasia Type 5	Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica...	ORPHA:93311
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low...	ORPHA:93356
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Reduced bone mineral density, Femoral bowing, Dentinogenesis imperfecta,...	OMIM:614856
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Small for gestational age, Fractured radius, Wormian bones, Decreased fi...	OMIM:616897
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
48,Xyyy Syndrome	Acne, Short neck, Thick lower lip vermilion, Irregularly spaced teeth, Azoospermia, Radioulnar sy...	ORPHA:99329
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost...	OMIM:602080
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t...	ORPHA:85184
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals	OMIM:269630
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor...	ORPHA:40
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Short...	OMIM:611890
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ...	ORPHA:2614
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver...	OMIM:301014
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturat...	OMIM:602111
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Beukes Hip Dysplasia	Avascular necrosis of the capital femoral epiphysis, Flat capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Arteriosclerosis, Severe Juvenile	Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta	OMIM:208060
Nemaline Myopathy 7	Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skelet...	OMIM:610687
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ...	OMIM:300602
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Cubitus valgus, Congenital musc...	ORPHA:1875
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific...	OMIM:618392
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy...	OMIM:277440
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy...	OMIM:264700
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Bone pain, Abnormality of the wrist, Avascular necr...	ORPHA:97332
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Knee osteoarthritis, ...	ORPHA:85408
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis, Hearing impairment	ORPHA:178377
Zimmermann-Laband Syndrome 3	Kyphosis, Long hallux, Flexion contracture, Thick lower lip vermilion, Gingival overgrowth, Aplas...	OMIM:618658
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca...	OMIM:259700
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Coxa valga, Trismus, Hypoplastic ilia...	OMIM:616583
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long...	ORPHA:1423
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Microtia, Hypoplasia of the zygom...	OMIM:613717
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Acne, Rhizomelia, Micrognathia, Short neck, Kyphosis, Abn...	ORPHA:3098
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Wild Type Abeta2M Amyloidosis	Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Abn...	ORPHA:85446
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Abnormality of ...	ORPHA:163649
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Cardiospondylocarpofacial Syndrome	Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Delayed...	OMIM:157800
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Hip d...	OMIM:616756
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Calcification of cartilage, Chondro...	ORPHA:1416
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist...	OMIM:254090
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R...	ORPHA:89936
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Melorheostosis	Increased bone mineral density, Lower limb asymmetry, Joint stiffness, Bone pain, Hyperostosis, A...	ORPHA:2485
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Elevated circulating c...	OMIM:248800
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Cryptorchidism, ...	OMIM:618393
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Hearing imp...	OMIM:239100
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Genu recurvatum, C...	ORPHA:137834
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna...	ORPHA:93333
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphosco...	ORPHA:263463
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il...	OMIM:215045
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Micrognathia, Short neck, Hamstring contractures, Patellar dislocation, Osteochon...	ORPHA:96183
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Gaucher Disease, Type Iiic	Aortic valve calcification, Mitral valve calcification, Calcification of the aorta	OMIM:231005
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali...	ORPHA:970
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Osteoarthritis, Abnormality of the elbow, Delayed skelet...	ORPHA:633
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Schaaf-Yang Syndrome	Mandibular prognathia, Flexion contracture, Tapered finger, Cryptorchidism, Obesity, Scoliosis, R...	OMIM:615547
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Radioulnar synostosis, Gait disturbance, Abnormal pa...	ORPHA:3270
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve...	ORPHA:56304
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Osteoarthritis, Submucous c...	OMIM:108300
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti...	ORPHA:402075
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Single t...	OMIM:210600
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Elevated circulating creatine kinase concentration, Ankle flex...	OMIM:619040
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K...	ORPHA:496689
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:324964
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi...	OMIM:184252
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormalit...	ORPHA:93160
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Pierre-Robin sequence, Cleft ...	OMIM:184840
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener...	OMIM:259420
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed...	OMIM:610968
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,...	OMIM:100800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Osteoarthritis, Obesity, Palmoplantar keratoderma, Abnormality o...	ORPHA:2206
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, ...	ORPHA:3250
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Small for gestational age, Talipes equinovarus, Kyphosis	ORPHA:85288
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Keratitis, Osteoarthrit...	ORPHA:1657
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig...	ORPHA:3258
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm...	ORPHA:166100
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Micrognathia, Short neck, Limb-girdle muscle ...	ORPHA:171436
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe...	OMIM:223800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Elevat...	OMIM:606612
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Hyperlordosis, Delayed skelet...	ORPHA:557003
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club...	ORPHA:1525
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg...	ORPHA:3409
Cole-Carpenter Syndrome 1	Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro...	OMIM:112240
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Abnormal dental enamel morphology, H...	ORPHA:582
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Ataxia, High, narrow palate, Kyphosis, Split hand, Unsteady gait...	OMIM:618124
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Bone pain, Rickets, Hypophosphatemic rickets	OMIM:193100
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:114300
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Abnormality of the dentition, Kyphosis, Delayed skeletal maturat...	ORPHA:1548
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:259450
Glycoprotein Storage Disease	Gout	OMIM:232900
Hypophosphatasia, Childhood	Waddling gait, Elevated plasma pyrophosphate, Craniosynostosis, Premature loss of primary teeth, ...	OMIM:241510
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab...	ORPHA:2635
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short neck, Osteoporosis, Obesity, Short metatarsal,...	OMIM:612463
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Eczema, Narrow mouth, Kyphosis, Hip dysplasia, Tongue fasciculations, Facial myokymia, Fa...	OMIM:620007
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High ...	ORPHA:178148
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Elevated circulating crea...	OMIM:255800
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Kyphosis, Cryptorchidism, Short metatarsal, Small ...	OMIM:180870
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Iliac crest ser...	OMIM:607326
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Difficulty walking, Lower limb a...	OMIM:617087
Ck Syndrome	Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, Abnormal digit morphology, High palate, S...	OMIM:300831
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, M...	ORPHA:48431
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Whistling appearance, Tri...	OMIM:277720
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Cockayne Syndrome Type 2	Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Flexi...	ORPHA:90322
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Eczema, Decreased palmar creases, Micrognathia, Kyphosis, Cryptorchidi...	ORPHA:352490
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi...	OMIM:612447
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hip dislocation, Small hand, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98855
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Osteoporosis, Obesity, Short ...	OMIM:103580
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Trichodentoosseous Syndrome	Increased bone mineral density, Taurodontia	OMIM:190320
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t...	ORPHA:2616
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Cerebral calcification, Adrenal calcification, Abnormal r...	ORPHA:51608
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Cryptorchidism, ...	OMIM:619293
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix	OMIM:245650
Richieri Costa-Da Silva Syndrome	Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Abnormality of the den...	ORPHA:3101
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Thin lon...	OMIM:616507
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dent...	OMIM:608940
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Ataxia, Amelogenesis imperfecta	OMIM:226750
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho...	ORPHA:296
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ...	OMIM:618291
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl...	OMIM:300718
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
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Dysmetria, H...	ORPHA:3041
Autosomal Recessive Hypophosphatemic Rickets	Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets, G...	ORPHA:289176
Calciphylaxis	Ectopic ossification, Arterial calcification	ORPHA:280062
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Gait...	ORPHA:2181
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi...	ORPHA:98863
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short neck, Osteoporosis, Obesity, Short metatarsal,...	OMIM:612462
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Kyphosis, Obesity, Oligodontia, Large hands, Everted lower lip vermilion, Scolios...	ORPHA:276630
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification	OMIM:614473
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B...	ORPHA:2762
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly, Micromelia	ORPHA:93283
X-Linked Intellectual Disability, Cabezas Type	Short neck, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, Open bite, O...	ORPHA:85293
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Cryptorchidism, Shor...	OMIM:301900
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Hypogonadotrop...	ORPHA:465508
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, B...	OMIM:608728
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal d...	ORPHA:2916
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia...	ORPHA:2780
Eiken Syndrome	Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Delayed epiphyseal ossificat...	ORPHA:79106
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Everted lower lip v...	ORPHA:505652
Wilson Disease	Back pain, Abnormality of the hand, Abnormality of the menstrual cycle, Bone pain, Increased body...	ORPHA:905
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Arthritis, Azoosperm...	OMIM:602390
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Sydenham Chorea	Movement abnormality of the tongue, Unsteady gait, Septic arthritis, Endocarditis	ORPHA:306731
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98853
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cryptorchidism, Delayed skeletal maturation, Cleft palate...	OMIM:613823
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otitis media, Ataxia, Abnor...	ORPHA:10
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone ...	OMIM:144750
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join...	OMIM:313400
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Familial Expansile Osteolysis	Bone pain, Osteolysis, Conductive hearing impairment, Pathologic fracture, Thin bony cortex	OMIM:174810
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ...	ORPHA:229717
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,...	OMIM:180300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal gap, Abnormal pinna mor...	OMIM:607143
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foo...	OMIM:301041
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Prominent metopic ridge, Ataxia, Kyphosis, Cleft palate, Short philtrum, G...	ORPHA:85317
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Distal lower limb amyotrophy, Joint laxity, Sandal gap, Kyphosis, Cryptorc...	OMIM:300354
Braddock-Carey Syndrome 1	Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip v...	OMIM:619980
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia	ORPHA:251393
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Posteriorly rotated ears, Micrognathia, Congenital sensorineural ...	OMIM:617306
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Knee flex...	OMIM:604416
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Camptodactyly of finger, Dislocated radial head, Micrognathia, Kyph...	OMIM:610758
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Persistent open anterior fontanelle, Ab...	ORPHA:1798
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Micrognathia, Short neck, Cryptorchidism, Osteoart...	OMIM:618000
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Decreased palmar creases, Micrognathia, Kyphosis, Deep philtrum, Wide ...	OMIM:615834
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Limited hip extensi...	OMIM:617114
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl...	OMIM:255200
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Central Core Disease	Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat...	ORPHA:597
Snijders Blok-Campeau Syndrome	Joint laxity, Broad-based gait, Unsteady gait, Taurodontia, High palate, Widely spaced teeth, Ena...	OMIM:618205
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, Pierre-Robin seque...	OMIM:619184
Wieacker-Wolff Syndrome	Facial palsy, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Hip...	OMIM:314580
15Q24 Microdeletion Syndrome	Smooth philtrum, Joint laxity, Brachydactyly, Small for gestational age, Congenital diaphragmatic...	ORPHA:94065
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosi...	OMIM:108145
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle...	OMIM:620080
Microcephalic Primordial Dwarfism, Toriello Type	Delayed skeletal maturation, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel h...	ORPHA:2643
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit...	OMIM:166200
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo...	OMIM:618188
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Micromelia, Proximal placement of thumb, Kyphos...	ORPHA:3121
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior ...	OMIM:230650
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Large knee, D...	OMIM:619269
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb...	OMIM:607095
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Micrognathia, Avascular necrosis of...	ORPHA:1901
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi...	OMIM:203500
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphos...	OMIM:609128
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Oral ulcer, Synovit...	ORPHA:567544
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, High palate, Lambdoidal...	OMIM:616294
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Sensorineural hearing impairment, Osteopetrosis, Conductive hearing im...	ORPHA:1522
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Branchiooculofacial Syndrome	Posteriorly rotated ears, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand p...	OMIM:113620
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri...	ORPHA:666
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit...	ORPHA:1545
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Facial palsy, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Keratitis, Short ...	OMIM:272430
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Kyp...	ORPHA:15
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten...	ORPHA:391665
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Waddl...	OMIM:183900
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Abnormality of the hand, Hyperlordosis, Short neck, Joint st...	OMIM:252605
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Scoliosis, Palmoplantar cutis laxa, Dentinogenesis impe...	OMIM:229200
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi...	ORPHA:3454
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Unsteady gait...	ORPHA:464282
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormality of the tongue, Increased susceptibility to fractures, Weight loss,...	ORPHA:216866
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Micrognat...	OMIM:265800
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ...	OMIM:193700
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Facial hypotonia, Ataxia, Kyphoscoliosis, Micrognathia, Short neck, Flexion contracture, Small ha...	OMIM:300055
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Delayed skeletal maturation, Severe con...	ORPHA:90646
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph...	OMIM:300232
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Immunodeficiency 61	Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis	OMIM:300310
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Wrist fl...	ORPHA:800
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to wal...	OMIM:128100
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism, Aplasia/Hypop...	ORPHA:2471
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis, Short femoral...	OMIM:614701
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Pro...	OMIM:617404
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Pseudohypoparathyroidism Type 1C	Short neck, Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal pha...	ORPHA:79444
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c...	OMIM:241530
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Failure to thrive	OMIM:226700
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Keratitis, Motheaten muscle fibers, Palmoplantar hyperkeratosis, Muscular dystroph...	OMIM:226670
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect...	OMIM:620321
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis, Failure to thrive, Small for gestational age	OMIM:613217
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Acute rhabdomyolysis, Kyphoscoliosis, Abnormality of the dentition, Malar promin...	OMIM:604168
Grant Syndrome	Joint dislocation, Decreased skull ossification, Joint hyperflexibility, Wormian bones, Abnormal ...	ORPHA:2097
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int...	ORPHA:69087
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Calcification of the aorta, Gonadal calcification, Stippled calcifica...	ORPHA:60025
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Anemia	ORPHA:37748
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Acute hepatitis, Limited elb...	ORPHA:39812
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Anauxetic Dysplasia 3	Short metacarpal, Brachydactyly, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Trident hand,...	OMIM:618853
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Multiple Synostoses Syndrome 4	Otosclerosis, Tarsal synostosis	OMIM:617898
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m...	OMIM:253250
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri...	OMIM:613312
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape...	OMIM:611174
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag...	OMIM:177850
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Joubert Syndrome 18	Joint laxity, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial polydactyly, Cl...	OMIM:614815
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Aicardi-Goutières Syndrome	Multiple joint contractures, Cerebral calcification, Calcification of the aorta, Arthritis, Moyam...	ORPHA:51
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Dental crowding, Micrognathia, Ragged-red muscle fibers, High palate, General...	OMIM:620351
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contra...	OMIM:121050
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Delayed skeletal maturat...	OMIM:614857
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Mix...	OMIM:259775
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci...	ORPHA:206572
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e...	ORPHA:2215
Masa Syndrome	Hyperlordosis, Kyphosis, Shuffling gait, Talipes equinovarus, Adducted thumb	OMIM:303350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent...	OMIM:601457
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Metaphyseal widening, Cranial hyperostosis, Flar...	OMIM:123000
Autosomal Dominant Hypophosphatemic Rickets	Bone pain, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted l...	ORPHA:2429
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Micr...	OMIM:615761
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Oculodentodigital Dysplasia	Ataxia, Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 finger syndac...	OMIM:164200
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Scarf Syndrome	Diastasis recti, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of the vertebral bod...	ORPHA:3134
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short neck, Thin lower lip vermilion, Short metatarsal, ...	OMIM:613328
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula...	ORPHA:1345
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Chronic otitis media, Clinodactyly of the 5th finger, Abnormal...	ORPHA:96263
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Subaortic Stenosis-Short Stature Syndrome	Acne, Bilateral single transverse palmar creases, Micrognathia, Short neck, Kyphosis, Obesity, Sc...	ORPHA:3191
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger, Ataxia, Thoracolumbar ...	OMIM:618443
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Sandal gap, Joint hypermobility, Ataxia, Carious teeth, Overweight, In...	OMIM:619229
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Spastic gait, Ankle clonus, Infertility, Scoliosis, Upper limb dysmetria, Limb muscle w...	OMIM:614409
Cole-Carpenter Syndrome	Delayed eruption of teeth, Bowing of the long bones, Crumpled long bones, Recurrent fractures, Ab...	ORPHA:2050
Huntington Disease-Like 1	Dysmetria, Gait ataxia, Abnormal shoulder morphology, Weight loss, Gait disturbance, Abnormal pos...	ORPHA:157941
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Pfapa Syndrome	Arthritis, Weight loss, Infectious encephalitis, Abnormal oral cavity morphology	ORPHA:42642
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures	OMIM:304700
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Recurrent fractures, Abnormality of the elbow, Limitation of j...	ORPHA:1486
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb...	OMIM:259100
Schinzel-Giedion Syndrome	Micrognathia, Tibial bowing, Myeloid leukemia, Wide anterior fontanel, Abnormal cochlea morpholog...	ORPHA:798
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypo...	ORPHA:79443
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High p...	ORPHA:192
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T...	ORPHA:583
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Kyphoscoliosis, Delayed skeletal maturation, Dental malocclusion...	OMIM:608545
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide...	OMIM:269300
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel...	OMIM:277590
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Ataxia, Delayed eruption of primary teeth, Abnorma...	ORPHA:90321
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Desmosterolosis	Low-set, posteriorly rotated ears, Increased bone mineral density, Talipes, Micromelia, Micrognat...	ORPHA:35107
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Arthritis, Re...	OMIM:611762
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis, Spastic gait	ORPHA:320365
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi...	ORPHA:79405
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bo...	OMIM:619638
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo...	OMIM:259720
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphos...	ORPHA:254346
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Flexion contracture, Arthritis, Finger swel...	OMIM:617591
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Delayed skeletal maturat...	ORPHA:3085
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium	ORPHA:220393
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Facial hypotonia, Slender build, Genu recurvatum, Kyphosis, ...	ORPHA:364028
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat...	ORPHA:536532
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal res...	ORPHA:94089
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Abnormality of the temporomandibular joint, Psoriasif...	ORPHA:85436
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Hypop...	ORPHA:1855
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Delayed skeletal maturation, Small...	OMIM:241410
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Scol...	OMIM:300337
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral ...	OMIM:231070
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Abnormal form of...	ORPHA:1354
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involvin...	ORPHA:371428
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Short neck, Mesomelic/rhizomelic limb shortening, ...	ORPHA:2347
Short Stature, Brussels Type	Calcification of cartilage	ORPHA:2867
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi...	OMIM:619951
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ...	ORPHA:65759
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi...	ORPHA:79406
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Abnormality of the dentition, Flexion contracture, Dental mal...	ORPHA:90289
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ...	ORPHA:251014
Pelger-Huet Anomaly	Eczema, Abnormality of the dentition, Kyphosis, Gingival overgrowth, Upper limb undergrowth, Lowe...	OMIM:169400
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, A...	ORPHA:1005
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc...	ORPHA:508533
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Kyphoscoliosis, Hypopla...	OMIM:615349
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Activated Pi3K-Delta Syndrome	Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Failure to thrive, Chronic sinusitis	ORPHA:397596
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Kyphosis, Distal upper limb amyotrophy, Gait disturbance, S...	ORPHA:101075
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R...	ORPHA:47612
Hemochromatosis, Type 4	Elevated transferrin saturation, Increased circulating ferritin concentration, Osteoarthritis, Im...	OMIM:606069
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S...	ORPHA:93324
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa va...	OMIM:615582
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Thoracolumbar ...	OMIM:616723
Harrod Syndrome	Arachnodactyly, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Join...	ORPHA:2115
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a...	ORPHA:575
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Failure to thrive, Flexion contracture, Kyphosis	OMIM:618237
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Varicose veins, Mitral valve calcification, Calcification of the aorta, Aortic valve calcification	ORPHA:2072
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Mixed hearing impairment, Short femur, Talipes, Micrognath...	OMIM:300990
Marden-Walker Syndrome	Decreased muscle mass, Arachnodactyly, Micrognathia, Short neck, High, narrow palate, Kyphosis, C...	OMIM:248700
Gm1 Gangliosidosis	Mandibular prognathia, Abnormal form of the vertebral bodies, Aspiration pneumonia, Infectious en...	ORPHA:354
Lopes-Maciel-Rodan Syndrome	Kyphosis, Unsteady gait, Small hand, Ankle clonus, Short foot, Scoliosis	OMIM:617435
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Osteomalacia,...	OMIM:309000
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi...	ORPHA:79411
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Aphthous ulcer, Uveitis, Arthri...	OMIM:120100
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High p...	ORPHA:958
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short neck, Micrognathia, Kyphosis, ...	ORPHA:3082
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Sensorineural hearing impairment, Increased susceptibility to fr...	OMIM:615066
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri...	ORPHA:2848
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis, Hearing impairment	OMIM:167250
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration	OMIM:619656
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi...	ORPHA:2796
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,...	ORPHA:392
Desmosterolosis	Rhizomelia, Posteriorly rotated ears, Micrognathia, Generalized osteosclerosis, Cupped ear, Joint...	OMIM:602398
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Delayed cl...	OMIM:127000
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Failure to thrive, Kyphosis, Upper limb hypertonia	ORPHA:319199
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b...	OMIM:126550
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain, Osteolysis, ...	ORPHA:73
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thi...	ORPHA:2983
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P...	ORPHA:534
Mucopolysaccharidosis, Type Vii	Accelerated skeletal maturation, Short neck, Flexion contracture, Widely spaced teeth, Narrow gre...	OMIM:253220
Sillence Syndrome	Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral dis...	ORPHA:3168
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Ab...	ORPHA:93315
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Kyphosis, Inability to walk, Recurrent pneumonia, Elbow f...	OMIM:618493
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Baralle-Macken Syndrome	Tapered finger, Inability to walk, High, narrow palate, Kyphosis, Obesity	OMIM:619255
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Enamel hypoplasia, Axillary pterygium, Oral mucosal blisters	OMIM:226730
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Malar prominence, Short neck, Micrognathia, Hyperlordosis, Kyphosis, ...	ORPHA:2522
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Arthritis, Muscular edema	ORPHA:3165
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Torticollis, Congenital hip dislocation, Dental crowding, Sa...	OMIM:609029
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Joint hypermobility, Congenital diaphragmatic hernia, Arachnodactyly, Carious te...	OMIM:617602
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurrent fractures, Protrusio...	OMIM:610682
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Open bite, Carious teeth, Kyphosis, Cryptorchidism, Reduced bone mineral density, V...	ORPHA:2617
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract...	OMIM:601559
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Rat-Bite Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Microtia, Joint hypermobility, Genu valgum	OMIM:617798
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Scoliosis	ORPHA:2047
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Eczema, Micrognathia, Cryptorchidism, Oral ulc...	OMIM:617052
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex	OMIM:176920
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the vertebral spinous pro...	ORPHA:1299
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr...	ORPHA:2323
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Ataxia, Micrognathia, Tapered finger, Kyphosis, Joint hyperflexibility, Everted lower...	ORPHA:2479
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Tho...	OMIM:619777
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis, Generalized amyo...	OMIM:619423
Paget Disease Of Bone 6	Left ventricular hypertrophy, Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ...	OMIM:180849
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calc...	OMIM:271665
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ...	ORPHA:397744
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Osteomalacia, Bone pain, Reduced bone mineral density, Hypophosphatemic rickets, P...	ORPHA:157215
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc...	OMIM:618727
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Gingivitis, Knee flexion contracture...	ORPHA:477
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture...	OMIM:615656
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Tubulointerstitial nephritis, High palate, ...	OMIM:218330
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Micrognathia, Shor...	OMIM:616145
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger, Cryptorchidism	OMIM:618512
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Ca...	ORPHA:88628
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Broad h...	OMIM:614188
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Short mandibula...	OMIM:141300
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ...	OMIM:617952
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Ataxia, Delayed eruption of primary teeth, Carious teeth,...	OMIM:216400
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration	OMIM:616414
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Fibrous dysplasia of the bo...	ORPHA:249
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Patellar hypoplasia, High palate, Microdontia, Short phalanx of fi...	ORPHA:221016
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler...	OMIM:618476
Basal Ganglia Calcification, Idiopathic, 1	Basal ganglia calcification, Calcification of the small brain vessels, Dense calcifications in th...	OMIM:213600
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Prader-Willi Syndrome	Osteopenia, Decreased muscle mass, Downturned corners of mouth, Short palm, Syndactyly, Hypogonad...	OMIM:176270
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Long p...	ORPHA:2598
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Oral ulcer, Weight loss, Arthritis...	OMIM:617321
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Hypercalcemia, Abnormality of the hand, Abnormality of the dentition...	ORPHA:476126
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia	OMIM:614898
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Intramuscular he...	ORPHA:169802
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Cryptorc...	OMIM:616331
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Osteoporosis, Small hand, Sl...	ORPHA:902
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Adult-Onset Still Disease	Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Cartilage destruc...	ORPHA:829
Jaberi-Elahi Syndrome	Broad-based gait, Joint stiffness, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoath...	OMIM:617988
2P15P16.1 Microdeletion Syndrome	High palate, Bilateral single transverse palmar creases, Prominent metopic ridge, Facial palsy, T...	ORPHA:261349
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Gaucher Disease, Type Iii	Vascular calcification	OMIM:231000
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Oslam Syndrome	Carious teeth, Radioulnar synostosis	ORPHA:2760
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral ...	ORPHA:488642
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Czech Dysplasia	Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ...	OMIM:609162
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r...	OMIM:610443
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal...	ORPHA:140
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Downt...	ORPHA:238750
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Elbow contracture, Multiple pterygia, Craniosynostosis, Tarsal...	OMIM:178110
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti...	ORPHA:2062
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,...	OMIM:268310
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, ...	OMIM:609008
Farber Disease	Skeletal muscle atrophy, Abnormality of the knee, Abnormality of the hand, Short toe, Flexion con...	ORPHA:333
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Fai...	ORPHA:85410
Polymyositis	Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog...	ORPHA:732
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In...	ORPHA:448237
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Autoimmune Lymphoproliferative Syndrome, Type Iii	Elevated circulating C-reactive protein concentration, Arthritis, Membranous nephropathy, Recurre...	OMIM:615559
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Pustule, Cheilit...	ORPHA:247353
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Postaxial polydactyly, Retrognathia, Inflamma...	OMIM:614576
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Scarf Syndrome	Diastasis recti, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Short sternum...	OMIM:312830
Rapp-Hodgkin Syndrome	Syndactyly, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficien...	OMIM:129400
Whipple Disease	Hyponatremia, Myositis, Pericarditis, Ataxia, Cachexia, Myocarditis, Uveitis, Arthritis, Erectile...	ORPHA:3452
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Inability to walk, Flexion contracture, Ankle clonus, Distal amyotrophy, Scoliosis	OMIM:609541
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition...	ORPHA:96169
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis, Inflammatory abnormality...	ORPHA:816
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Wide mouth, Long philtrum, Fa...	OMIM:608776
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu...	ORPHA:2502
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Bone pain, Osteolysis, Weight loss, Joint swelling...	ORPHA:35687
12Q14 Microdeletion Syndrome	Micrognathia, Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th finger, Failure...	ORPHA:94063
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d...	ORPHA:2311
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endoc...	ORPHA:3099
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Osteoporosis, Scol...	OMIM:615381
Celiac Disease, Susceptibility To, 1	Ataxia, Eczema, Osteoporosis, Rickets, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, I...	OMIM:212750
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat...	OMIM:618874
Otosclerosis 10	Otosclerosis	OMIM:615589
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Dental crowding, Sandal gap, Single transverse palmar...	OMIM:617061
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Sensorineural hearing impairment, Flexion con...	ORPHA:17
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Bacterial Toxic-Shock Syndrome	Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Myopathy, Scoliosis, Failure to thrive	OMIM:618234
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Paresis of extensor muscles of the big toe, Progressive flexion contractures, Ataxia...	ORPHA:98808
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fontanel, Ulnar bowi...	OMIM:207410
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fracture...	OMIM:608654
Cinca Syndrome	Skin rash, Elevated circulating C-reactive protein concentration, Patellar overgrowth, Uveitis, A...	OMIM:607115
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Small earlobe, Genu varum, Long toe,...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal...	OMIM:618050
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f...	ORPHA:2905
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Thick lowe...	ORPHA:560
Fountain Syndrome	Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl...	ORPHA:3219
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor...	OMIM:249420
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Pulp calcification, Absent scaphoid, Absent trapezoid bone, Microdontia, Distal...	OMIM:606895
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Conjunctivitis, Narrow mouth, Enamel hypoplasia, Mitt...	OMIM:226600
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti...	OMIM:186580
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss	ORPHA:3287
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,...	OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Ataxia, Single transverse palmar crease, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac...	OMIM:619557
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont...	ORPHA:314588
Aspartylglucosaminuria	Mandibular prognathia, Macroorchidism, Abnormal morphology of ulna, Abnormality of the dentition,...	ORPHA:93
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Short distal phalanx of the thumb, Psoriasiform dermatitis, Ataxia, Hyperlordosis, Th...	ORPHA:221139
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Trisomy 9P	Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Short neck, Kyphosis,...	ORPHA:236
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology, Delayed closure of the anterior fontan...	OMIM:614886
Hurler Syndrome	Hypoplasia of the femoral head, Diaphyseal thickening, Joint stiffness, Short neck, Hypoplasia of...	OMIM:607014
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, Contracture of the distal interphal...	OMIM:607015
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spin...	ORPHA:508488
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust...	OMIM:614204
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporos...	OMIM:617190
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Calcinosis, Hypo...	ORPHA:2909
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Hypogonadotropic hypogonadism, Dysmenorrhea, Macrodactyly, Abno...	ORPHA:314769
Aortic Aneurysm, Familial Thoracic 12	Arthritis, High palate, Scoliosis	OMIM:619825
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Kyphosis, Deep philtrum, Cryptorch...	ORPHA:404440
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal...	OMIM:602535
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Cleft...	OMIM:616894
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Cubitus valgus, Metatarsus adductus, Delayed skel...	OMIM:611962
Atypical Rett Syndrome	Kyphosis, Inability to walk, Small hand, Gait ataxia, Short foot, Gait disturbance, Scoliosis, Lo...	ORPHA:3095
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Bone pain, Polyarticular arthritis,...	OMIM:142680
Acromegaly	Mandibular prognathia, Broad jaw, Acne, Dysmenorrhea, Hypogonadotropic hypogonadism, Abnormality ...	ORPHA:963
Rett Syndrome	Skeletal muscle atrophy, Cachexia, Abnormality of the dentition, Kyphosis, Gait apraxia, Gait ata...	OMIM:312750
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ...	OMIM:619718
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Short iliac bones, Increa...	OMIM:607944
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Flexion contracture...	ORPHA:2671
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Downturned corners of mo...	ORPHA:955
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets	OMIM:613388
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi...	ORPHA:79409
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Infla...	OMIM:106300
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Calcinosis, Sh...	ORPHA:221008
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Conductive hearing ...	ORPHA:1826
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Crypto...	OMIM:619194
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Microdontia, Abnormali...	ORPHA:285
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Gout, Increased muscle glycogen content, Hype...	OMIM:232800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Hamartoma of tongue, Cleft upper lip, Postaxial polyda...	OMIM:613091
Noonan Syndrome 14	Scapular winging, Short neck, High, narrow palate, Kyphosis, Cryptorchidism, Wide mouth, Deep pal...	OMIM:619745
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis, Cryptorchidism, High palate, Short philtrum, Decreased tes...	OMIM:615433
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Weigh...	ORPHA:183
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi...	ORPHA:79410
Lesch-Nyhan Syndrome	Hyperuricemia, Gout	ORPHA:510
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Ataxia, Uveitis, Arthritis, Conjunctivitis, Inflammat...	ORPHA:36412
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Clin...	ORPHA:1724
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm...	ORPHA:93274
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Short neck, Hi...	ORPHA:2789
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Dental crowding, Joint hypermobility, Micrognathia, Shor...	OMIM:130720
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splen...	ORPHA:667
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Fl...	ORPHA:3042
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Head titubation, Kyphosis, Bronchiectasis, Dysmetria, Knee flexion contract...	OMIM:619708
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Fe...	OMIM:620076
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Weight ...	ORPHA:29207
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Sl...	OMIM:300676
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet...	OMIM:102500
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Single t...	ORPHA:521426
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, L...	ORPHA:3455
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Short neck, Thick lower lip vermilion, Dent...	ORPHA:2563
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Large for gestat...	ORPHA:77301
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Short foot, Hip dysplasia,...	ORPHA:500055
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylos...	ORPHA:95699
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentra...	ORPHA:1320
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Streak ova...	ORPHA:2232
Tetrasomy 9P	Joint dislocation, Myositis, Dental crowding, Micrognathia, Short neck, Downturned corners of mou...	ORPHA:3310
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Abnormal pinna m...	ORPHA:2839
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th...	ORPHA:904
Melnick-Needles Syndrome	Craniofacial hyperostosis, Hip dislocation, Osteolytic defects of the phalanges of the hand, Join...	ORPHA:2484
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Narro...	OMIM:617022
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Ataxia, Rickets	OMIM:560000
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur...	ORPHA:355
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Bone pain, Difficulty walking, Rheumatoid arthritis, Avascular necr...	ORPHA:399180
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis	ORPHA:99014
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans...	OMIM:617527
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra...	OMIM:603387
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Severe generalized osteoporosis, Micrognathia, Kyphosc...	OMIM:210730
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Abnormal dental morphol...	ORPHA:191
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Elevated circulatin...	OMIM:615084
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Diastasis recti, Craniosynostosis, Limited wrist moveme...	ORPHA:576
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis...	ORPHA:809
Hereditary Xanthinuria	Arthropathy, Hypouricemia, Gout, Hyperxanthinemia, Myopathy, Rheumatoid arthritis	ORPHA:3467
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:617056
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema, Hyperhomocystinemia	OMIM:617780
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Decreased muscle mass, Dental crowding, High palate, Short philtrum, Long ...	ORPHA:3063
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Short palm, Hypertriglyceride...	ORPHA:79474
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Cachexia, Hypoalbuminemia, Scoliosis, Premature loss of teeth, F...	OMIM:610965
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Kyphosis, Cryptorchidism, Po...	ORPHA:3378
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Gait ataxia, Gait disturbance, Abnormal posturing, Hypomimic face	ORPHA:225147
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Non-midline cleft lip, Cryptorchidism, P...	ORPHA:2075
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ataxia, Facial palsy, Kyphosis, Tru...	OMIM:211530
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Osteoporo...	ORPHA:79259
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Bone pain, Clubbing, Osteolytic defects of the phalang...	OMIM:161700
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Failure to thrive...	ORPHA:2461
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Eczema, Micrognathia, Tarsal synos...	ORPHA:85199
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion...	OMIM:269500
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Ataxia, Cachexia, Joint stiffness, Kyphosis, Choreoathetosis, Gait ...	ORPHA:702
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Kyphosis, Cryptorchidism, Flexion contracture, Osteoporosis...	ORPHA:398069
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Abnormality of the dentition, Short neck, Wide mouth, Enamel hypoplasia,...	OMIM:615802
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Cleft palate, Camptodactyly, Clinodactyly of t...	OMIM:619123
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Mullegama-Klein-Martinez Syndrome	Pes planus, Micrognathia, Sensorineural hearing impairment, Absent stapes, Microtia, Polydactyly,...	OMIM:301022
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Elevated circulating creatine kinase concentration...	OMIM:242840
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropic hypogonadism...	OMIM:203800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyph...	ORPHA:457359
Congenital Tufting Enteropathy	Orofacial cleft, Weight loss, Arthritis, Punctate keratitis, Failure to thrive	ORPHA:92050
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Loc...	ORPHA:73223
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossia, ...	ORPHA:79107
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini...	OMIM:154230
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me...	OMIM:250250
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Short neck, Kyphosis, Thick lower lip vermilion, Flexion contracture, ...	OMIM:309900
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Osteopenia, Sacral dimple, Ataxia, Eczema, Short nec...	OMIM:300966
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Shigellosis	Hyponatremia, Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, ...	ORPHA:810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Absent frontal sinuses, Diastema, Kypho...	OMIM:301040
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Delayed skeletal maturation, Sensorineural h...	ORPHA:1435
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing	ORPHA:85165
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Ataxia, Hyperuricemia, Gout	ORPHA:411543
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	ORPHA:352447
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Macroglossi...	ORPHA:261144
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Hallux valgus, Dental crowding, Ataxia, Kyphoscoliosis, High, narrow palate, Kyphos...	OMIM:300967
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Short philtrum, Hypocalcemia, Chronic otitis media, Acne, Abnormal dent...	ORPHA:567
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Hyperuricemia, Gout	OMIM:162000
Noonan Syndrome 1	Male infertility, Failure to thrive in infancy, Kyphoscoliosis, Micrognathia, Short neck, High, n...	OMIM:163950
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Kyphosis, Obesity, Hyperuricemia, Narrow mouth	ORPHA:261222
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri...	ORPHA:2137
Marfan Syndrome	Decreased muscle mass, Dental crowding, Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion...	OMIM:154700
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Oral ulcer, Arthritis, Malar rash, Nephritis	ORPHA:93552
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydac...	OMIM:258850
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive	OMIM:304790
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Small for gestational age, Pneumonia, Glomerulonep...	ORPHA:1304
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion...	ORPHA:812
Mccune-Albright Syndrome	Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplasia of the bone...	ORPHA:562
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis	OMIM:610743
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Giant Cell Arteritis	Pericarditis, Ataxia, Joint stiffness, Weight loss, Arthritis, Glossitis	ORPHA:397
Dowling-Degos Disease	Palmar pits, Arthritis, Abnormality of the hand, Acne inversa	ORPHA:79145
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop...	OMIM:276820
Riddle Syndrome	Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Wei...	ORPHA:420741
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognath...	ORPHA:2785
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Retrobulbar opti...	ORPHA:117
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal f...	OMIM:194190
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Short hard palate, Gen...	ORPHA:1969
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border	OMIM:616455
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Asymmetry of the mouth, Micrognathia, Kyphosis, Cry...	ORPHA:401973
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Recurrent skin infections, Craniosynostosis, Oral mucosal blisters,...	ORPHA:79396
Adiposis Dolorosa	Arthritis, Recurrent skin infections, Obesity	ORPHA:36397
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc...	ORPHA:64755
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Tendon xanthom...	ORPHA:412
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, High...	OMIM:616914
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Delayed skeletal maturati...	OMIM:307200
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Decreased circulating cerulopla...	OMIM:304150
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis...	OMIM:240300
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Dental crowding, Protrusio acetabuli, ...	ORPHA:558
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Failure to thrive in infancy, Eczema, Erythroderma	OMIM:619510
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Proximal placement of thumb, Abnormal ...	ORPHA:818
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Abn...	ORPHA:228123
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Ankle clonus, Gait disturbance, Scoliosis, ...	ORPHA:88644
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Glomerulonephritis, Recurrent skin in...	ORPHA:79408
Kleefstra Syndrome 2	Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis	OMIM:617768
Mucopolysaccharidosis Type 2, Severe Form	Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, ...	ORPHA:217085
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,...	ORPHA:365
Cono-Spondylar Dysplasia	Short humerus, Epiphyseal dysplasia, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Primrose Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture...	OMIM:259050
Fusariosis	Myositis, Sinusitis, Maculopapular exanthema, Fasciitis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, ...	ORPHA:217093
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis	ORPHA:79327
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, High, narrow palate, Kyphosis, Thick l...	OMIM:162300
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
17Q24.2 Microdeletion Syndrome	Otosclerosis, Failure to thrive in infancy, Micrognathia, Upper limb undergrowth, Truncal obesity...	ORPHA:529962
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Joint laxity, Arachnodactyly, Large for gestational age, Hyperlordosis, Ky...	OMIM:617011
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, Wide mouth, Hip dysplasia, T...	ORPHA:261250
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hypocalcemic seizures, Osteope...	OMIM:612301
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Gait disturbance, Vertebral compression f...	ORPHA:85193
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed skeletal maturation, Sple...	ORPHA:77261
Melioidosis	Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Abnormal pa...	ORPHA:31202
Cystinosis	Rickets, Gait disturbance	ORPHA:213
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Ataxia, Cryptorchidism, Gout, Wide mouth, High palate, Hyperuricemia	OMIM:300661
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys...	OMIM:616462
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Alveolar ridge overgrowth, Painless fractures ...	ORPHA:642
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Knee pain, Crusting erythe...	ORPHA:324625
Dent Disease	Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En...	ORPHA:1652
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
3C Syndrome	Finger syndactyly, Short neck, Micrognathia, High, narrow palate, Kyphosis, Hemivertebrae, Cleft ...	ORPHA:7
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced...	ORPHA:881
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Ataxia, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumerary too...	ORPHA:268261
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Inflammatory abnormality of the skin, Swelling of proximal interphalange...	ORPHA:3260
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Eosi...	OMIM:613795
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Medial calcification of large arteries, Carotid artery dilatation, Dilatation of the ...	ORPHA:391487
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Familial Mediterranean Fever	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Aphthous ulcer, Pe...	OMIM:249100
Cryoglobulinemic Vasculitis	Viral hepatitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:91138
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 t...	OMIM:616449
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated circulating C-reactive pro...	ORPHA:3243
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Pericarditis, Premature ovarian insufficiency, Hypergonadot...	OMIM:212065
Sandifer Syndrome	Abnormal posturing, Torticollis, Esophagitis, Decreased cervical spine mobility	ORPHA:71272
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Small for gestational age, Eczema, Arachnodactyly, To...	ORPHA:464306
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs...	OMIM:301074
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Palmoplantar cutis laxa, Irregular menstruation, Femo...	OMIM:616482
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Hypokalemia, Oligome...	OMIM:219090
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Pneumonia, Abnor...	ORPHA:2298
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing...	ORPHA:464311
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bone pain, Abnormal dental pulp m...	ORPHA:416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Ataxia, Erythema nodosu...	OMIM:615688
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Gait ataxia, Kyphosis, Inability to walk, Limb hypertonia	ORPHA:500180
Saccharopinuria	Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull...	ORPHA:3124
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age, Micrognathia	OMIM:618272
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Listeriosis	Back pain, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Ataxia, Pustule, Myocarditis, Peri...	ORPHA:533
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Prominent interp...	OMIM:135900
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria, Bone pain	OMIM:259900
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Carious teeth, Kyphosis, Flexion contracture, Unsteady gait, Keratoconju...	ORPHA:90324
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Elevated...	OMIM:619381
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Clubbing, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid ...	ORPHA:79128
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia	ORPHA:411536
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Prominent fingertip pads, Joint...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Prominent fingertip pads, Joint...	ORPHA:363958
Classic Homocystinuria	Dental crowding, Recurrent fractures, Arachnodactyly, Joint stiffness, Kyphosis, Osteoporosis, Ge...	ORPHA:394
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Bone pain, Rickets	OMIM:612089
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, At...	OMIM:277900
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Pneumonia, Ab...	ORPHA:79404
Cockayne Syndrome B	Mandibular prognathia, Small for gestational age, Ataxia, Delayed eruption of primary teeth, Cari...	OMIM:133540
Mend Syndrome	Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Cryptorc...	OMIM:300960
Keutel Syndrome	Recurrent otitis media, Recurrent sinusitis, Calcification of cartilage, Short distal phalanx of ...	ORPHA:85202
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosis, Submucous cl...	OMIM:617140
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Srd5A3-Cdg	Ataxia, Kyphosis, Abnormal sacrum morphology, Oligodontia, Palmoplantar keratoderma	ORPHA:324737
15Q14 Microdeletion Syndrome	Acne, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philt...	ORPHA:261190
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Cleft palate, Short clavicles, Lambdoidal craniosynostosis, ...	OMIM:603116
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Oral ulcer, Arthritis, Iritis	OMIM:109650
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur...	ORPHA:90340
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Congenit...	OMIM:601803
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu...	ORPHA:79099
Oculodentodigital Dysplasia	Camptodactyly of finger, External ear malformation, Cranial hyperostosis, Abnormality of the ear,...	ORPHA:2710
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Phalangeal dislocation, Osteoarthritis, G...	ORPHA:287
Fabry Disease	Hyperlipidemia, Thick lower lip vermilion, Abnormal femur morphology, Reduced bone mineral densit...	ORPHA:324
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Hyperchole...	OMIM:210250
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Hypocalciuric Hypercalcemia, Familial, Type Iii	Bone pain, Osteomalacia, Chondrocalcinosis	OMIM:600740
Glycogen Storage Disease Ia	Decreased muscle mass, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Pancreatitis	OMIM:232200
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Pancreatitis, Osteoarthritis, Peritonitis, Arthritis, Erysipel...	ORPHA:342
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvature of the verteb...	OMIM:619475
Catastrophic Antiphospholipid Syndrome	Myocarditis, Avascular necrosis, Arthritis	ORPHA:464343
Hereditary Spherocytosis	Ataxia, Hyperbilirubinemia, Maculopapular exanthema, Gout	ORPHA:822
Proteus Syndrome	Decreased muscle mass, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinoda...	ORPHA:744
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Furr...	OMIM:615108
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Pterygium, Oral mucosal blisters	ORPHA:79403
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis, Decreased b...	OMIM:266270
Micro Syndrome	Joint stiffness, Micrognathia, Kyphosis, Cryptorchidism, High palate, Short philtrum, Scoliosis	ORPHA:2510
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Cleft lip, Kyphosis, Hemivertebrae, Cleft palate, Narrow palate, Contracture of the p...	OMIM:618223
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Elevate...	ORPHA:49041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Osteoarthritis, Skeletal muscle hypertrophy	OMIM:619714
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased circulating ferritin concentratio...	OMIM:615846
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ...	ORPHA:906
Hyper-Igd Syndrome	Skin rash, Lymphadenitis, Oral ulcer, Arthritis, Chronic oral candidiasis, Serositis	OMIM:260920
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviation of finger, Malar flattening...	OMIM:609944
Selective Igm Deficiency	Chronic oral candidiasis, Fasciitis, Non-infectious meningitis, Allergic rhinitis, Hashimoto thyr...	ORPHA:331235
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
Glycogen Storage Disease Ib	Hyperlipidemia, Osteoporosis, Oral ulcer, Gout, Inflammation of the large intestine, Hyperuricemi...	OMIM:232220
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Clubbing, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar...	OMIM:181000
Choreoacanthocytosis	Temporomandibular joint crepitus, Elevated circulating creatine kinase concentration, Protruding ...	ORPHA:2388
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Increased femoral anteversion, High pala...	OMIM:619005
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Furr...	OMIM:615109
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Hyperuricemia, Gout	OMIM:603860
Mgat2-Cdg	Osteopenia, Dental crowding, Kyphosis, Scoliosis, Open mouth, Failure to thrive, Brachydactyly	ORPHA:79329
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Conjunctivitis, Abnormal vertebral morphology, Abnormal dental enamel morphology, Crypto...	ORPHA:2273
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia, Gout	ORPHA:79233
1P36 Deletion Syndrome	Camptodactyly of finger, Joint stiffness, Narrow mouth, Kyphosis, Cryptorchidism, Obesity, Spinal...	ORPHA:1606
Atelis Syndrome 2	Sacral dimple, Single transverse palmar crease, Micrognathia, Diastema, Kyphosis, Thick lower lip...	OMIM:620185
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Gm1-Gangliosidosis, Type I	Short neck, Joint stiffness, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Scolios...	OMIM:230500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Joint hyperflexibility, Hyperuricemia, Arthritis	ORPHA:93111
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Limitation of joint mobility, Temporomandibular joint ankylosis...	ORPHA:580
Alexander Disease	Osteopenia, Ataxia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, High palate, Gait disturba...	ORPHA:58
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteolysis, Osteochondrosis	ORPHA:2396
Lesch-Nyhan Syndrome	Hip dislocation, Choreoathetosis, Hyperuricemia, Podagra, Testicular atrophy	OMIM:300322
Autoimmune Lymphoproliferative Syndrome	Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, ...	ORPHA:3261
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Interface hepatitis, Enamel hypoplasia, Psoriasiform dermatitis, Enterocolitis	OMIM:243150
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Fanconi-Bickel Syndrome	Osteopenia, Rickets	ORPHA:2088
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Fucosidosis	Decreased muscle mass, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebr...	ORPHA:349
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Unsteady gait,...	ORPHA:707
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Gout, Hyperproteinemia, Increased circulating renin le...	ORPHA:90041
Marburg Hemorrhagic Fever	Back pain, Pericarditis, Skin rash, Maculopapular exanthema, Elevated circulating creatine kinase...	ORPHA:99826
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Femoral bowing, Decreased circulating renin level, Hyponatremia, Arachnodactyly, C...	OMIM:201750
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Furr...	OMIM:158350
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Gamma-Heavy Chain Disease	Skin rash, Osteolysis, Rheumatoid arthritis, Neoplasm of the tongue, Abnormal palate morphology	ORPHA:100026
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e...	ORPHA:35706
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity	OMIM:219080
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis	ORPHA:99867
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecysti...	ORPHA:2331
Gm1-Gangliosidosis, Type Ii	Thin bony cortex, Joint stiffness	OMIM:230600
Dermatomyositis	Pericarditis, Myocarditis, Weight loss, Inflammatory myopathy, Arthritis, Chondrocalcinosis	ORPHA:221
Gitelman Syndrome	Rhabdomyolysis, Hypermagnesemia, Gout, Tubulointerstitial nephritis, Hypokalemia, Hypocalcemia, H...	ORPHA:358
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Osteopor...	OMIM:309583
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral muc...	ORPHA:536
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Cryptorchidism, High palate, Shor...	OMIM:619244
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:174000
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis, Secondary amenorrhea, Truncal obesity	OMIM:610489
Distal Renal Tubular Acidosis	Osteomalacia, Bone pain, Rickets, Increased susceptibility to fractures, Reduced bone mineral den...	ORPHA:18
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Limb hypertonia	OMIM:619909
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Delayed skeletal maturation, Rickets, Reduced bone mineral density, Hig...	OMIM:613658
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:286
Sotos Syndrome	Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Chronic otitis medi...	ORPHA:821
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Pancreatitis	OMIM:610475
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Kyphosis, Athetosis, Talipes equinovarus, Scoliosis	OMIM:613454
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Dysmetria, Ankle clonus, Lower limb hypertonia, Dysdiadochokinesis, Difficulty walking,...	ORPHA:171629
Glycogen Storage Disease Ic	Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large intestine, Hyperuricemia, S...	OMIM:232240
Subcorneal Pustular Dermatosis	Pustule, Rheumatoid arthritis	ORPHA:48377
Postencephalitic Parkinsonism	Kyphosis, Open mouth, Camptocormia, Akinesia	ORPHA:97349
Myasthenia Gravis	Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis	ORPHA:589
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Neurofibromatosis Type 1	Ataxia, Recurrent fractures, Joint stiffness, Kyphosis, Cryptorchidism, Genu valgum, Slender long...	ORPHA:636
Cerebrocostomandibular Syndrome	Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Tracheomalaci...	ORPHA:1393
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Digeorge Syndrome	Patellar dislocation, Scoliosis, Intervertebral disc degeneration	OMIM:188400
Aspartylglucosaminuria	Joint laxity, Acne, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, Thick low...	OMIM:208400
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Kyphosis, Unsteady gait, Myopathy, Cholecystitis, Failure to thrive	OMIM:615512
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Pneumonia, Myocarditis, Hyperkalemia, Hypocalcemia, Septic arthritis, Pancreatitis,...	ORPHA:544482
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth, Accelerated skeletal maturation	OMIM:300942
Weill-Marchesani Syndrome 2	Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Thickened helices, Flexi...	OMIM:608328
Spondyloocular Syndrome	Osteopenia, Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Thin bony c...	OMIM:605822
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Elevated circulating alpha-fetoprot...	ORPHA:116
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Weight loss, Failure to t...	ORPHA:95427
Cowden Syndrome	Ataxia, Kyphosis, Furrowed tongue, Macroglossia, Palmoplantar keratoderma, High palate, Scoliosis...	ORPHA:201
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight loss, Arthri...	ORPHA:99921
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia, Gout, Reduced sperm motility	OMIM:137920
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Chronic...	ORPHA:227990
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Chondrocalcinosis	ORPHA:405
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Chronic...	ORPHA:227982
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Tracheobronchopathia Osteochondroplastica	Esophagitis, Recurrent pneumonia, Pneumonia, Calcification of cartilage	ORPHA:3348
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Thin bony cortex	OMIM:612731
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Cystinosis, Nephropathic	Hypophosphatemic rickets, Delayed skeletal maturation, Rickets, Genu valgum	OMIM:219800
17Q11 Microdeletion Syndrome	Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal ...	ORPHA:97685
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex, Hearing impairment	OMIM:619727
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia	ORPHA:93598
Colchicine Poisoning	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Conjunctivitis	OMIM:153400
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decreased body weight	OMIM:182210
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Accelerated skeletal maturation, Hypoplasia of t...	ORPHA:64
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia	OMIM:619482

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 Ank

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 Ank.

There are 18 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genetic Ablation of Ankrd1 Mitigates Cardiac Damage during Experimental Autoimmune Myocarditis in Mice.	Biomolecules (December 2022)	Ankrd1^{tm1(KOMP)Vlcg}	PMC9775225
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.	Genes (November 2021)	Anks6^{tm1b(KOMP)Wtsi}	PMC8623546
The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development.	Frontiers in cell and developmental biology (April 2021)	Ankrd11^{tm1a(EUCOMM)Wtsi}	PMC8117352
The molecular dynamics of subdistal appendages in multi-ciliated cells.	Nature communications (January 2021)	Anks1^{tm1a(KOMP)Wtsi}	PMC7840914
Loss of Anks6 leads to YAP deficiency and liver abnormalities.	Human molecular genetics (November 2020)	Anks6^{tm1a(KOMP)Wtsi}	32886109
Ankmy2 Prevents Smoothened-Independent Hyperactivation of the Hedgehog Pathway via Cilia-Regulated Adenylyl Cyclase Signaling.	Developmental cell (July 2020)	Ankmy2^{tm1a(EUCOMM)Hmgu} Ankmy2^{tm1b(EUCOMM)Hmgu}	32702291
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ankhd1^{tm1b(KOMP)Wtsi} Ankhd1^{tm1a(KOMP)Wtsi} Ankrd11^{tm1.2(IMPC)Wtsi} Ankrd13d^{tm1a(KOMP)Wtsi} Ankrd22^{em1(IMPC)Wtsi} Ankrd6^{tm1.1(KOMP)Wtsi} Ankrd9^{tm1(KOMP)Wtsi} Anks1b^{tm1a(KOMP)Wtsi} Anks6^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Ankrd13d^{tm1a(KOMP)Wtsi} Ankrd6^{tm1b(KOMP)Wtsi} Ankrd9^{tm1(KOMP)Wtsi} Anks6^{tm1b(KOMP)Wtsi}	PMC7338221
Mask family proteins ANKHD1 and ANKRD17 regulate YAP nuclear import and stability.	eLife (October 2019)	Ankhd1^{tm1a(KOMP)Wtsi} Ankrd17^{tm1a(EUCOMM)Hmgu}	PMC6861002
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ankhd1^{tm1a(KOMP)Wtsi} Ankrd13a^{Gt(RRH308)Byg} Ankrd13d^{tm1a(EUCOMM)Wtsi} Ankrd22^{em1(IMPC)Wtsi} Ankrd6^{tm1b(KOMP)Wtsi} Ankrd9^{tm1(KOMP)Wtsi} Anks1b^{tm1a(KOMP)Wtsi} Anks4b^{tm2a(EUCOMM)Wtsi} Anks6^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ankrd6^{tm1b(KOMP)Wtsi} Ankrd9^{tm1(KOMP)Wtsi} Ankrd13a^{Gt(RRH308)Byg} Ankrd13d^{tm1a(EUCOMM)Wtsi} Anks1b^{tm1a(KOMP)Wtsi} Anks4b^{tm2a(EUCOMM)Wtsi} Anks6^{tm1b(KOMP)Wtsi}	PMC6459510
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Ankrd11^{tm1b(EUCOMM)Wtsi}	PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ankrd13d^{tm1a(KOMP)Wtsi} Ankrd6^{tm1b(KOMP)Wtsi} Ankrd9^{tm1(KOMP)Wtsi} Anks1b^{tm1a(KOMP)Wtsi} Anks6^{tm1b(KOMP)Wtsi}	PMC5827107
Initial characterization of behavior and ketamine response in a mouse knockout of the post-synaptic effector gene Anks1b.	Neuroscience letters (January 2017)	Anks1b^{tm1a(KOMP)Wtsi} Anks1b^{tm1b(KOMP)Wtsi}	PMC5305419
The GIY-YIG Type Endonuclease Ankyrin Repeat and LEM Domain-Containing Protein 1 (ANKLE1) Is Dispensable for Mouse Hematopoiesis.	PloS one (March 2016)	Ankle1^{tm1.2(KOMP)Wtsi} Ankle1^{tm1(KOMP)Wtsi} Ankle1^{tm1.1(KOMP)Wtsi}	PMC4807109
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Anks6^{tm1b(KOMP)Wtsi}	PMC5159622
Removal of immunoglobulin-like domains from titin's spring segment alters titin splicing in mouse skeletal muscle and causes myopathy.	The Journal of general physiology (February 2014)	Ankrd1^{tm1(KOMP)Vlcg}	PMC4001778
Agouti C57BL/6N embryonic stem cells for mouse genetic resources.	Nature methods (June 2009)	Anks4b^{tm2a(EUCOMM)Wtsi}	PMC3555078

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MGI Allele	Allele Type	Produced
Ank^{tm44732(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ank^{tm44732(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ank^{tm1e(KOMP)Wtsi}	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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