Registered for phenotyping at IMPC

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

Gene Summary

Name:
ectonucleotide pyrophosphatase/phosphodiesterase 1
Synonyms:
Ly-41,  Pca,  E-NPP1,  PC-1,  Npps,  CD203c,  Pca-1,  NPP1,  twy,  4833416E15Rik,  Pdnp1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Enpp1 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.

The table below shows human diseases predicted to be associated to Enpp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Rare Circulatory System Disease
Abnormality of finger, Arterial calcification, Abnormal metatarsal morphology, Abnormality of the... ORPHA:98028
Melorheostosis
Joint stiffness, Peripheral arteriovenous fistula, Increased bone mineral density, Arthritis, Hyp... ORPHA:2485
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, ... ORPHA:2619
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Proximal Symphalangism
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly ... ORPHA:3250
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Camurati-Engelmann Disease, Type 2
Hip contracture, Lower limb pain, Osteopenia, Hyperostosis, Knee flexion contracture, Waddling ga... OMIM:606631
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Spinal cord compression OMIM:251250
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... ORPHA:99642
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Short stature, Platy... OMIM:604864
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Pseudoachondroplasia
Irregular carpal bones, Platyspondyly, Irregular acetabular roof, Genu valgum, Distal joint laxit... ORPHA:750
Generalized Arterial Calcification Of Infancy
Stroke, Medial calcification of medium-sized arteries, Calcification of the auricular cartilage, ... ORPHA:51608
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Joint subluxation, Fac... ORPHA:566943
Albers-Schönberg Osteopetrosis
Bone pain, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Joint dislocation, Avasc... ORPHA:53
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... ORPHA:1306
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of... ORPHA:93351
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Genu valgum, Pedal edema, Knee pain, Double-layered patella, Joint stiffness, F... ORPHA:166011
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Osteopenia, Hyperphosphaturia, Hypercalciuria, Generalized o... ORPHA:99879
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... ORPHA:3246
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Vasc... OMIM:211900
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Disproportionate... OMIM:132400
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Finger joint hypermobility, Osteoarthritis, Kne... ORPHA:93308
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Joint swelling, Kyphoscoliosis, Joint contracture of the hand, Osteoarthritis, C... OMIM:208230
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... ORPHA:3248
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Osteochondrosis Of The Tarsal Bone
Chondritis, Antalgic gait, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Tarsal stippli... ORPHA:563991
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Joint dislocation, Hypocalcemia, Alopecia... ORPHA:93160
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... ORPHA:2741
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Sensorineural hearing impairment, Aplasia/Hypo... OMIM:611377
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Arterial Calcification, Generalized, Of Infancy, 1
Periarticular calcification, Carotid artery calcification, Hypophosphatemic rickets, Ankylosis, G... OMIM:208000
Legg-Calvé-Perthes Disease
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation, Skelet... ORPHA:2380
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... ORPHA:2496
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Conductive hearing impairment, Aplasia/Hypoplasia of the mid... OMIM:185800
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria OMIM:239199
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... OMIM:615349
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Calcification Of Joints And Arteries
Intervertebral disk calcification, Femoral arterial calcification, Tibial arterial calcification,... OMIM:211800
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Disproporti... ORPHA:93284
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Osteoarthritis, Schmorl's node,... OMIM:614135
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Aminoaciduria, Osteopenia, Congenital hip dislocation, Renal hypoplasia, Hydro... OMIM:617913
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Hip Dysplasia, Beukes Type
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... ORPHA:2114
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Elevated circulating creatine kinase concentrati... OMIM:600969
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... ORPHA:1416
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, F... OMIM:600081
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... OMIM:130060
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Genu varum, Hypocalcemia OMIM:619073
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Short stature, Osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan... OMIM:165800
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Obesity OMIM:264010
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Alkaptonuria
Intervertebral disk calcification, Joint stiffness, Aortic valve calcification, Joint swelling, J... ORPHA:56
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Ventricular septal defect, Horseshoe kidney, Delayed skeletal... OMIM:157800
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankles, Bilateral conductive hearing impairment, Abnormalit... ORPHA:2010
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... OMIM:186400
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Limb joint contracture, Calcification of the small brain vessels, Dense calcifications in the cer... OMIM:114100
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Alkaptonuria
Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcification, Thicken... OMIM:203500
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cerebral calcification, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seizures OMIM:146200
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... ORPHA:337
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Ompha... OMIM:311300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Short stature, Osteoarthritis, Abnormality of the ankles, Genu varum, Abnormality of the epiphyse... ORPHA:166002
Multiple Synostoses Syndrome
Conductive hearing impairment, Joint stiffness, Brachydactyly, Symphalangism affecting the phalan... ORPHA:3237
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Osteomyelitis, Inability to walk, Abnormality of the autonomic nervous system, Li... ORPHA:36386
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Abnorma... ORPHA:1005
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Hyperp... ORPHA:157215
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Banki Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... ORPHA:1228
Kienbock Disease
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans ORPHA:97332
Isolated Cleft Lip
Conductive hearing impairment, Talipes equinovarus, Abnormal Eustachian tube morphology, Chronic ... ORPHA:199302
Renal Tubular Acidosis Iii
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Abnormality o... ORPHA:2611
Hypochondroplasia
Spinal canal stenosis, Childhood onset short-limb short stature, Osteoarthritis, Scoliosis, Genu ... ORPHA:429
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Multiple small vertebral fractures, Back pain, Osteoart... ORPHA:93311
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Progressive joint destruction, Sclerosis of foot bone, Thickened cortex of bones... ORPHA:564003
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly, Short stature OMIM:271600
Smith-Magenis Syndrome
EEG abnormality, Retinal detachment, Brachydactyly, Wide nasal bridge, Hypertriglyceridemia, Syno... OMIM:182290
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Lower-limb joint contracture, Tracheomalacia, Abnormal Eustachian tube morpholo... ORPHA:513456
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis, Hip subluxation, Hip dislocation, Skeletal muscle atrophy OMIM:256720
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... OMIM:305620
Ulna Metaphyseal Dysplasia Syndrome
Delayed skeletal maturation, Abnormality of the vertebral column, Wrist pain, Hypercalcemia OMIM:191420
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Osteoarthritis Susceptibility 3
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... OMIM:607850
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized osteopor... OMIM:277950
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Sinusitis, Osteomyelitis, Hypocalcemia, Skin rash, Alopecia, Ch... ORPHA:47
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Ca... OMIM:239200
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement, Short stepped shuffling gait ORPHA:86820
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Stickler Syndrome Type 1
Sensorineural hearing impairment, Osteoarthritis, Retinal detachment, Mitral valve prolapse, Shor... ORPHA:90653
Gorham-Stout Disease
Bone pain, Abnormality of femur morphology, Torticollis, Osteomyelitis, Abnormal bone ossificatio... ORPHA:73
Isolated Glycerol Kinase Deficiency
Short stature, Elevated circulating creatine kinase concentration, Scoliosis, Osteoporosis, Hyper... ORPHA:408
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Otofacioosseous-Gonadal Syndrome
Sensorineural hearing impairment, Carpal synostosis, Protruding ear, Talipes equinovarus, Inguina... OMIM:601976
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Short stature, Hyperextensibility of the finger joints, Hip... OMIM:105835
Calciphylaxis
Ectopic ossification, Arterial calcification ORPHA:280062
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impairment, Symphalangis... OMIM:186500
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Type A1 brachyd... OMIM:113450
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Carpal synostosis, Premature graying of hair, Joint contracture... OMIM:148820
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Failure ... ORPHA:289157
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Clinodactyly of the 4th toe, Wormian bones, Limited elbow extension, Hyperostosis, Delayed closur... OMIM:604922
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Abnormal vascular morphology, Arterial calcification, Arterial tor... ORPHA:289601
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis OMIM:616833
Ruvalcaba Syndrome
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Con... ORPHA:3121
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Disproportionate short-trunk short stature, Difficulty walking, Premature osteoart... ORPHA:93314
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Protruding ear, Finger syndactyly, Hypoplasia of the radius, M... ORPHA:3258
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Dent Disease 1
Glycosuria, Proximal tubulopathy, Stage 5 chronic kidney disease, Renal phosphate wasting, Nephro... OMIM:300009
Oculocerebrodental Syndrome
Hypocalcemia, Stroke, Scoliosis, Hyperlordosis, Thoracic kyphosis, Hypercalcemia, Abnormality of ... ORPHA:557003
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Synophrys, Tar... OMIM:605282
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, F... OMIM:264700
Achondroplasia
Limited hip extension, Conductive hearing impairment, Bowing of the legs, Generalized joint laxit... OMIM:100800
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Camptodactyly of fi... ORPHA:1323
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Diastrophic Dysplasia
Ulnar deviation of finger, Genu valgum, Patellar dislocation, Short long bone, Talipes equinovaru... OMIM:222600
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Scoliosis, Arthritis, Intrauterine growth retardation ORPHA:1937
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... OMIM:618469
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... OMIM:613388
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Spinal rigidity, Flexion contracture, Elevated circulating creatine kinase concentr... OMIM:615883
Spondyloepiphyseal Dysplasia, Kimberley Type
Proportionate short stature, Osteoarthritis, Platyspondyly ORPHA:93283
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Sensorineural hearing impairment, Osteomyelitis, Decreased sensory nerve conduction velocity, Dec... OMIM:162400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Increased s... OMIM:612287
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Inguinal hernia, Short neck, Bilateral single transverse palmar creases, Synostosis of ... ORPHA:3191
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis, Abnormality of the vertebral column ORPHA:2206
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypophosphatasia, Infantile
Widely patent fontanelles and sutures, Vertebral clefting, Craniosynostosis, Elevated plasma pyro... OMIM:241500
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Hypophosphatemic Rickets
Renal phosphate wasting, Joint stiffness, Hypophosphatemia, Calcification of the aorta, Hypocalci... ORPHA:437
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Bone pain, Ric... OMIM:193100
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Atrial septal defect... ORPHA:79113
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Joint swelling, Joint stiffness, Chondrocalcinosis, Abnormality of... ORPHA:66627
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Thick eyebrow, Tracheomalacia, Camptodactyly of finger, S... ORPHA:896
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... OMIM:612286
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Hepatomegaly, Craniosynos... OMIM:259700
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, External ear malform... ORPHA:33110
Epiphyseal Dysplasia, Multiple, 2
Broad-based gait, Genu varum, Osteochondritis dissecans, Waddling gait, Knee osteoarthritis, Mild... OMIM:600204
Desbuquois Dysplasia 1
Short neck, Platyspondyly, Phalangeal dislocation, Intrauterine growth retardation, Advanced ossi... OMIM:251450
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion, Macrotia OMIM:221950
Aicardi-Goutières Syndrome
Multiple joint contractures, Prolonged neonatal jaundice, Micropenis, Cerebral calcification, Cal... ORPHA:51
Muenke Syndrome
Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Low anterio... OMIM:602849
Stickler Syndrome, Type I
Sensorineural hearing impairment, Conductive hearing impairment, Joint stiffness, Membranous vitr... OMIM:108300
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit... ORPHA:90646
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium c... OMIM:307800
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Skeletal muscle atrophy, Osteoporosis ORPHA:3294
Mandibuloacral Dysplasia With Type A Lipodystrophy
Joint stiffness, Growth delay, Hyperlipidemia, Flexion contracture, Osteopenia, Delayed cranial s... OMIM:248370
Widow'S Peak Syndrome
Kyphosis, Short stature, Recurrent patellar dislocation, Hip osteoarthritis, Mild short stature, ... OMIM:314570
Bruck Syndrome 1
Hip contracture, Kyphosis, Short stature, Platyspondyly, Scoliosis, Osteoporosis, Protrusio aceta... OMIM:259450
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Sillence Syndrome
Platyspondyly, Large tarsal bones, Slender build, Back pain, Chess-pawn distal phalanges, Aplasia... ORPHA:3168
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Kyphoscoliosis, Short stature, Elevated circulating creatine kinase concentrat... OMIM:614727
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, F... OMIM:277440
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Kyphosis, Abnormal antihelix morphology, Clinodactyly of the 5... ORPHA:2916
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Kyphosis, Scoliosis, Osteoporosis, Myopathy OMIM:618234
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Vasculitis, Arthritis, Osteolysis, Hyperostosis, Craniofacial osteosclerosis, Abno... ORPHA:324964
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Platyspondyly, Genu valgum, Abnormality of the curvature of the vertebral column, Hip subluxation... ORPHA:93360
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Spondylocarpotarsal Synostosis Syndrome
Short neck, Block vertebrae, Delayed skeletal maturation, Vertebral segmentation defect, Epiphyse... OMIM:272460
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, Low ... ORPHA:79443
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy, Diaphyseal... ORPHA:1513
Blue Diaper Syndrome
Blue urine, Nephrocalcinosis, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Hypophosphatasia, Childhood
Short stature, Craniosynostosis, Elevated plasma pyrophosphate, Low alkaline phosphatase, Waddlin... OMIM:241510
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... OMIM:263540
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Proteinuria, Proximal tubulopathy... ORPHA:1652
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Scoliosi... ORPHA:2345
Pseudoachondroplasia
Irregular carpal bones, Platyspondyly, Genu valgum, Disproportionate short-limb short stature, Ge... OMIM:177170
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis OMIM:309630
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Partial duplication of the distal phalanx of the hallux, Broad hal... ORPHA:2669
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hypophosphatemia, Osteopenia, Hypercalciuria, Pathologic fracture, Waddling gait... OMIM:156400
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Bowing of the long bones, Omphalocele, Elbow dislocation, Carpal synos... ORPHA:90652
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria OMIM:602722
Muenke Syndrome
Sensorineural hearing impairment, Carpal synostosis, Coronal craniosynostosis, Cone-shaped epiphy... ORPHA:53271
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Basal ganglia calcification, Papilledema, Abnormali... OMIM:127000
Kbg Syndrome
Thick eyebrow, Vertebral fusion, Cutaneous syndactyly, Short neck, Finger clinodactyly, Abnormal ... ORPHA:2332
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility, Ectopic calc... ORPHA:2762
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Distal Trisomy 14Q
Hearing impairment, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short nail, Platyspondyly, Short neck, Genu val... OMIM:271640
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Peripheral Dysostosis
Joint stiffness, Osteoarthritis, Short stature ORPHA:1795
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... OMIM:134600
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Basal ganglia calcification, Stenosis of the medullar... ORPHA:93325
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Abnormal metacarpal morphology, Osteoarthritis ORPHA:166100
Chondroectodermal Dysplasia With Night Blindness
Short stature, Otitis media, Osteopenia, Fractures of the long bones, Platyspondyly, Osteoporosis... ORPHA:319195
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Hemivertebrae, Spina bifida occulta, Block verte... OMIM:613686
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Knee dislocation, Joint hypermobility, Generalized joint laxity,... OMIM:618000
Neuropathy, Hereditary Sensory, Type Ie
Sensorineural hearing impairment, Hearing impairment, Osteomyelitis OMIM:614116
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature OMIM:608278
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Sh... OMIM:614856
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Osteop... ORPHA:48431
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Premature osteoarthritis OMIM:184840
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology ORPHA:1345
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Syringomyelia, Vertebra... OMIM:122600
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Choroid plexus calcification, Basal ganglia calcifi... ORPHA:79444
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Abnormal pinna morphology, Sensor... OMIM:214300
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Skin rash, Craniosynostosis, Osteopenia, Eczema, Chronic otit... ORPHA:2314
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Retinal degeneration, Hep... ORPHA:90324
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... ORPHA:485
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Multiple Epiphyseal Dysplasia Type 4
Abnormal pinna morphology, Accelerated skeletal maturation, Upper limb undergrowth, Abnormal hand... ORPHA:93307
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear, Clinodactyly of the 5th finger, Sparse hair, Arach... OMIM:602249
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Brachydactyly, Abnormal form of the vertebral bodies, Synostosis o... ORPHA:3238
Hypercalcemia, Infantile, 1
Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis OMIM:143880
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Medullary nephrocalcinosis, Genu varum, Genu valgum, Hyperphosphaturia,... OMIM:613312
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... OMIM:609441
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Inguinal hernia, Abnormal vertebral segmentation... ORPHA:915
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Gaucher Disease
Ataxia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Osteopenia, Hematuri... ORPHA:355
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint laxity, Joint hypermobility OMIM:130020
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis... ORPHA:3416
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Sensorineural hearing impairment, Bacterial endocarditis, Aortic valve calcification, Cholelithia... ORPHA:2072
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Increased endomysial con... OMIM:619473
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Conductive hearing impairment,... OMIM:118100
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Short neck, Upper limb ... ORPHA:93315
Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy, Rickets, Ga... ORPHA:213
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,... OMIM:618392
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, Hammerto... OMIM:600882
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Atrial septal defect,... ORPHA:921
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint stiffness, Oligoarthritis, Joint swelling, Iridocyclitis, Flexion contracture, Mild postnat... ORPHA:85408
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Myelopathy, Increased bone mineral density, Spinal cord compression OMIM:602475
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Ataxia, Increased bone mineral density, Osteoporosis, Increased ... OMIM:136300
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Osteomalacia, Hyperphosphaturia, Bone pain, Rickets ORPHA:89937
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... OMIM:601492
Phaver Syndrome
Conductive hearing impairment, Joint stiffness, Overfolded helix, Camptodactyly of finger, Broad ... ORPHA:2876
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Epiphyseal Dysplasia, Multiple, 5
Delayed ossification of carpal bones, Delayed tarsal ossification, Short stature, Genu valgum, Pr... OMIM:607078
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... OMIM:185900
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Diaphanospondylodysostosis
Myelomeningocele, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally oss... ORPHA:66637
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Pathologic fracture, Gait disturbance, I... ORPHA:352540
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Osteogenesis Imperfecta, Type Xii
Short stature, Scoliosis, Wormian bones, Osteoporosis, Generalized osteoporosis OMIM:613849
Cranio-Osteoarthropathy
Joint stiffness, Joint swelling, Osteoarthritis, Eczema, Arthritis, Abnormality of the knee, Abno... ORPHA:1525
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phal... ORPHA:1436
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Short stature ORPHA:63442
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Joint hyperflexibility, Osteoporosis ORPHA:2787
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... OMIM:135100
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Verheij Syndrome
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Conductive hearing impairment, Abnormality of the middle ear o... OMIM:130720
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Shoulder girdle muscle weakness, Vertebral fusion, Achilles t... OMIM:606612
Juvenile Dermatomyositis
Elevated circulating C-reactive protein concentration, Skin rash, Elevated circulating creatine k... ORPHA:93672
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Immunodeficiency 61
Recurrent sinusitis, Arthritis, Recurrent otitis media OMIM:300310
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Hepatomegaly, Difficulty walking, Basilar artery calcification, Transient isch... ORPHA:365
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Joint contracture of the... OMIM:248910
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... ORPHA:1106
Trisomy 8P
Multiple joint contractures, Short fourth metatarsal, Clinodactyly of the 4th toe, Short 1st meta... ORPHA:264450
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Hepatomegaly, Retinal degeneration, Optic atrophy, Abnormal hea... ORPHA:580
Humeroradial Synostosis With Craniofacial Anomalies
Carpal synostosis, Microtia, Small earlobe, Tarsal synostosis, Humeroradial synostosis OMIM:236410
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Cranial nerve compression, Osteosclerosis... ORPHA:210110
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... ORPHA:289176
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesome... OMIM:171480
Frontonasal Dysplasia 1
Conductive hearing impairment, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot,... OMIM:136760
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Elevated t... OMIM:606069
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Short stature ORPHA:2786
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Genu valgum, Small epiphyses, Short long bone, Advanced ossifica... OMIM:618363
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification, Pneumonia ORPHA:85179
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Rickets OMIM:611590
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Basal ganglia calcification OMIM:615361
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Scleroderma
Keratitis, Calcinosis cutis, Stroke, Alopecia, Myocarditis, Brachial plexus neuropathy, Osteolyti... ORPHA:801
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Enlarged joints, Recurrent fractures, Short stature, Osteoporosis, Joint laxity, Decreased muscle... OMIM:248010
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Slender build, Failure to thrive, Slender long bones with narro... OMIM:608154
Multiple Symmetric Lipomatosis
Joint stiffness, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Eleva... OMIM:619743
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short neck, Synostosis of carpal bones, Symphalangism affecting t... ORPHA:710
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle ... OMIM:167320
Laron Syndrome
Severe short stature, Osteoarthritis, Truncal obesity, Delayed puberty, Hypercholesterolemia, Abn... ORPHA:633
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Sensorineural hearing impairment, Enlarged joints, Flexion contracture, Mixed hearing impairment,... OMIM:215150
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Alopecia, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic defec... ORPHA:90154
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Basal ganglia calcification, Calcification of the sma... OMIM:213600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Short neck, Scoliosis, Osteoporosis, Joint laxity, Delayed thelarche, Delayed puberty OMIM:616033
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Osteomyelitis, Flexion contracture of finger, Truncal titubation, Rod-cone dystrophy, Pig... ORPHA:88628
Branchiooculofacial Syndrome
Sparse hair, Overfolded helix, White forelock, Clinodactyly of the 5th finger, Microtia, Elbow fl... OMIM:113620
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Atresia of the external auditory c... ORPHA:3236
Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Enlarged joints, Tibial bowing, Short metacarpal, Abnormally os... ORPHA:1427
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration, Brachydactyly, Hip osteoarthriti... OMIM:619248
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Brachydactyly, Short phalanx of finger, Retinal thinning, Asteroid... OMIM:132450
Forsythe-Wakeling Syndrome
Growth delay, Decreased body weight, Osteoporosis, Short stature OMIM:613606
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Short stature, Platyspondyly, Scoliosis, Wormian ... ORPHA:2771
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Squared-off platyspondyly, Severe short stature, Narrow vertebra... ORPHA:93352
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... ORPHA:1435
Autosomal Recessive Malignant Osteopetrosis
Bone pain, Recurrent fractures, Abnormal pulmonary valve morphology, Abnormality of hair texture,... ORPHA:667
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:312150
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... OMIM:303110
Ivic Syndrome
Joint stiffness, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones,... ORPHA:2307
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Ri... OMIM:616026
Variant Abeta2M Amyloidosis
Cardiovascular calcification, Wrist pain, Abnormal skeletal muscle morphology, Pathologic fractur... ORPHA:314652
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Intervertebral disc degeneration, Scoliosis,... OMIM:619656
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Hemochromatosis Type 2
Increased circulating ferritin concentration, Osteoporosis, Abnormality of iron homeostasis, Elev... ORPHA:79230
Pgm3-Cdg
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Osteomyelitis, Vasculiti... ORPHA:443811
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Small for gestational age, Short stature, Osteopenia, Synostosis involving bon... ORPHA:221016
Enthesitis-Related Juvenile Idiopathic Arthritis
Oligoarthritis, Back pain, Abnormal thoracic spine morphology, Abnormality of the vertebral colum... ORPHA:85438
Arteriosclerosis, Severe Juvenile
Short stature, Calcification of the aorta, Central retinal vessel vascular tortuosity, Delayed pu... OMIM:208060
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Bone pain, Ri... OMIM:612089
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Genu varum, Limited elbow extension... OMIM:602111
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Majeed Syndrome
Metaphyseal irregularity, Osteomyelitis, Inflammatory abnormality of the skin, Increased bone min... ORPHA:77297
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Platyspondyly, Abnormality of the ankles, Disproportionate short-trunk short statu... ORPHA:163665
Malignant Hyperthermia, Susceptibility To, 2
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... OMIM:154275
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Acne, Hyperuricemia, Hypercholester... ORPHA:77296
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Type 2 muscle fiber atrophy, Myositis, Lower l... ORPHA:99845
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the an... ORPHA:968
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Failure to thrive, Kyphosis, Platyspondyly, Scoliosis, Osteoporosi... OMIM:234250
Neuropathy, Hereditary Sensory, Type Id
Autoamputation of digits, Osteomyelitis, Nail dystrophy, Distal lower limb amyotrophy OMIM:613708
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Type 2 mu... OMIM:617519
Rothmund-Thomson Syndrome
Skin rash, Reduced bone mineral density, Small for gestational age, Osteopenia, Short stature, Ap... ORPHA:2909
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ataxia, Hepatomegaly, Retinal degeneration, Otitis media, Coars... ORPHA:581
Immunodeficiency 12
Growth delay, Osteoporosis OMIM:615468
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:253290
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Failure to thrive, Kyphoscoliosis, Intrauterine growth retardation, Elbow... ORPHA:96183
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Narrow palm, Clinodactyly, Thoracic ... ORPHA:1445
Spondyloepiphyseal Dysplasia, Nishimura Type
Disproportionate short-limb short stature, Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Fibrous Dysplasia Of Bone
Hypophosphatemia, Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase conce... ORPHA:249
Familial Expansile Osteolysis
Hydroxyprolinuria, Conductive hearing impairment, Pathologic fracture, Osteolysis, Bowing of the ... OMIM:174810
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic arch calcification, Tendon rupture, Join... OMIM:182250
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Short neck, Fused cervical vertebrae, Meningocele, L... ORPHA:3456
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Recurrent fractures, Hydroxyprolinuria, Increased urine deoxypy... OMIM:239000
Pulmonary Alveolar Microlithiasis
Stippled calcification in carpal bones, Increased circulating surfactant protein level, Hepatomeg... ORPHA:60025
X-Linked Hypophosphatemia
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Craniosynostosis, Redu... ORPHA:89936
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing... OMIM:184460
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Knee pain, Hyperostosis, Periostosis, Clubbing OMIM:614441
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumb... OMIM:313400
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Panniculitis, Maculopapular exanthema, Peritonitis, Abnormal... ORPHA:228119
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Majeed Syndrome
Joint swelling, Osteomyelitis, Inflammatory abnormality of the skin, Flexion contracture, Skin ra... OMIM:609628
Alpha-Mannosidosis
Avascular necrosis, Kyphosis, Abnormal helix morphology, Inguinal hernia, Short neck, Scoliosis, ... ORPHA:61
Wildervanck Syndrome
Fused cervical vertebrae, Hearing impairment OMIM:314600
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Osteopenia, Accelerated bone age after puberty, Delayed skeletal maturation, Sparse ... OMIM:190350
Malignant Hyperthermia, Susceptibility To, 3
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... OMIM:154276
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Elevated circulating alkaline phosphatase concentration, Necrotizing enterocolit... OMIM:616809
Hyaline Fibromatosis Syndrome
Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion... OMIM:228600
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma, Prominent fingertip pads OMIM:614113
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal bone ossification, Triangular shaped distal phalanges of... ORPHA:73230
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Ataxia, Hepatomegaly, Microves... OMIM:256810
Dermatoosteolysis, Kirghizian Type
Keratitis, Osteoarthritis, Scoliosis, Abnormality of the wrist, Osteolysis, Tarsal synostosis ORPHA:1657
Listeriosis
Ataxia, Stroke, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis, Osteomyelitis, ... ORPHA:533
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microtia, Short 1st metacarpal, S... ORPHA:2438
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... OMIM:248190
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Neuropathy, Hereditary Sensory, Type If
Osteolytic defects of the phalanges of the hand, Osteomyelitis, Hallux valgus, Arthropathy OMIM:615632
Fanconi-Bickel Syndrome
Hypophosphatemia, Renal tubular acidosis, Osteopenia, Glycosuria, Nephropathy, Hypercalciuria, Hy... ORPHA:2088
Sapho Syndrome
Recurrent fractures, Osteomyelitis, Vasculitis, Arthritis, Osteolysis, Hyperostosis, Enthesitis, ... ORPHA:793
Nail-Patella Syndrome
Proximal finger joint hyperextensibility, Limited pronation/supination of forearm, Abnormal patel... ORPHA:2614
Carpenter Syndrome 1
Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular se... OMIM:201000
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Skeletal mu... OMIM:255800
Shashi-Pena Syndrome
Kyphosis, Scoliosis, Osteoporosis OMIM:617190
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Inability to walk by childhood/adolescence, Triceps weakness, Flexion contr... ORPHA:99947
Congenital Insensitivity To Pain With Severe Intellectual Disability
Keratitis, Recurrent fractures, Tibial bowing, Osteomyelitis, Congenital bilateral hip dislocatio... ORPHA:453510
Sialidosis Type 2
Kyphosis, Ataxia, Flexion contracture, Short stature, Osteoporosis, Skeletal muscle atrophy ORPHA:87876
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, Abnormali... ORPHA:3019
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Short stature, Osteopenia, Genu varum, Abnormal trabecular bone morpho... ORPHA:221008
Roberts Syndrome
Sparse hair, Craniosynostosis, Hypoplasia of the radius, Short neck, Abnormality of the upper lim... ORPHA:3103
Adamantinoma
Bone pain, Hypercalcemia, Pathologic fracture ORPHA:55881
Raine Syndrome
Abnormal pinna morphology, Protruding ear, Long hallux, Increased bone mineral density, Hypophosp... OMIM:259775
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Bone cyst, Macroglossia, Abnormal tendon morphology, Abnormal... ORPHA:85446
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... ORPHA:398063
Cockayne Syndrome
Ataxia, Inability to walk, Hepatomegaly, Retinal degeneration, Abnormal renal physiology, Cerebra... ORPHA:191
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of medium-sized arteries, Cerebral hemorrhage, Macular degeneration, Calcifi... OMIM:177850
Coccidioidomycosis
Pancreatitis, Osteolysis, Pneumonia, Pericarditis, Abnormal sperm morphology, Osteomyelitis, Peri... ORPHA:228123
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Zika Virus Disease
Absent foveal reflex, Congenital intracerebral calcification, Skin rash, Retinal pigment epitheli... ORPHA:448237
Scedosporiosis
Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Ectopic calcification, Pneumonia, Perica... ORPHA:449280
Osteogenesis Imperfecta, Type I
Recurrent fractures, Otosclerosis, Joint hypermobility, Osteopenia, Femoral bowing, Wormian bones... OMIM:166200
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... ORPHA:1822
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Interphalangeal joint contra... OMIM:151200
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Osteomalacia, Generalized a... OMIM:227810
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent skin infections, Peritonitis, Elevat... ORPHA:36234
Marshall Syndrome
Sensorineural hearing impairment, Sparse hair, Sparse eyebrow, Sparse eyelashes, Cerebral calcifi... ORPHA:560
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Nephrocalcinosis, Joint laxity, Facial hypotonia OMIM:611087
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Homozygous Familial Hypercholesterolemia
Peripheral arterial stenosis, Premature arteriosclerosis, Hyperlipidemia, Premature coronary arte... ORPHA:391665
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating alkaline phosphat... OMIM:122860
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, 2-3 toe syndactyly, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Calvarial hyperostosis, Short stature, E... ORPHA:52430
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral wedging, Palmar pits, Vertebra... ORPHA:377
Perrault Syndrome 1
Ataxia, Short stature, Scoliosis, Osteoporosis, Gait ataxia OMIM:233400
Giant Cell Arteritis
Conductive hearing impairment, Joint stiffness, Ataxia, Double outlet right ventricle with subpul... ORPHA:397
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Thoracic kyphoscoliosis, Aortic dissection, Hip subluxation, Limb muscle weakness, Pa... ORPHA:1900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Ankle clonus, Osteopenia, Scoliosis, Ureteral stenosis, Hypercalciuria, Osteoporosis, Ren... OMIM:615398
Glycoprotein Storage Disease
Gout OMIM:232900
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... ORPHA:791
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Protruding ear, Congenital diaphragmatic hernia, Multiple renal cysts, Tetralogy... ORPHA:1166
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... OMIM:248250
Solitary Bone Cyst
Lytic defects of the radius, Muscular edema, Abnormal humeral diaphysis morphology, Abnormality o... ORPHA:83468
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density, Scoliosis, Genu varum, Hyperlordosis, Gait disturbance, Disproporti... ORPHA:2501
Oculodentodigital Dysplasia
Ataxia, Clinodactyly of the 5th finger, Finger syndactyly, Cerebral calcification, Camptodactyly ... ORPHA:2710
Kniest Dysplasia
Enlarged joints, Conductive hearing impairment, Hip contracture, Delayed epiphyseal ossification,... OMIM:156550
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Short neck, Hyperlordosis, Fused cervical vertebrae, Spin... ORPHA:2522
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Chronic rhini... OMIM:259710
Mycetoma
Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal ... ORPHA:2583
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Genu varum, ... OMIM:600785
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Elevated circulating C-reactive protein concentrat... ORPHA:85435
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Short stature, Osteopenia, Osteoporosis, Elevated hepatic tran... ORPHA:369
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Hypophosphatemia, Chondrocalcinosis, Nephroblastoma, Osteoporosis, Hypercalciuri... ORPHA:99880
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Small for ... OMIM:214150
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Elevated circulating alkaline phosphatase concentration, Short stature, Osteopeni... OMIM:610968
Sheldon-Hall Syndrome
Vertebral segmentation defect, Joint stiffness, Protruding ear, Abnormal hip bone morphology, Add... ORPHA:1147
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Conductive hearing impairment, Protruding ear, Cone-shaped epiphyses of the ph... ORPHA:502
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Hemihypotrophy of lower limb OMIM:108450
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Severe short statur... OMIM:126550
Prieto Syndrome
Patellar dislocation, Osteoporosis, Patellar subluxation OMIM:309610
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Low alkaline phosphatase, Pathologic fractu... OMIM:146300
Pseudoaminopterin Syndrome
Slender finger, Clinodactyly of the 4th finger, Single transverse palmar crease, Sagittal cranios... ORPHA:221120
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Alopecia universalis, Iridocyclitis, Chronic active hep... OMIM:240300
2Q37 Microdeletion Syndrome
Sparse scalp hair, Conductive hearing impairment, Clinodactyly of the 5th finger, Short metacarpa... ORPHA:1001
Hypervitaminosis A, Susceptibility To