Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Calcification Of Joints And Arteries
Periarticular calcification, Arterial calcification, Ectopic ossification, Abnormal joint morphology OMIM:211800
Rare Circulatory System Disease
Abnormality of the knee, Limited wrist movement, Arterial tortuosity, Abnormal metatarsal morphol... ORPHA:98028
Ectopic ossification in muscle tissue, Bone pain, Increased bone mineral density, Hyperostosis, J... ORPHA:2485
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Toe syndactyly, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Proximal symphalangism, E... ORPHA:3250
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Camurati-Engelmann Disease, Type 2
Lower limb pain, Hyperostosis, Waddling gait, Knee flexion contracture, Skeletal muscle atrophy, ... OMIM:606631
Syndactyly, Type V
Camptodactyly of finger, 3-4 toe syndactyly, 4-5 toe syndactyly, Fused fourth and fifth metacarpa... OMIM:186300
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal cord compression, Spinal instability OMIM:251250
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the ... ORPHA:99642
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Arterial Calcification, Generalized, Of Infancy, 1
Ankylosis, Generalized arterial calcification, Periarticular calcification, Hypophosphatemic rick... OMIM:208000
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-... ORPHA:1836
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Acetabular dysplasia, Join... ORPHA:750
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Abnormal hip joint morphology, Pericard... ORPHA:51608
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Mueller-Weiss Syndrome
Chondritis, Limitation of movement at ankles, Difficulty walking, Facet joint arthrosis, Sclerosi... ORPHA:566943
Albers-Schönberg Osteopetrosis
Genu valgum, Hypocalcemia, Recurrent fractures, Bone pain, Generalized osteosclerosis, Short dist... ORPHA:53
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... ORPHA:93351
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormal bone structure, Abnormal aortic morphology, Flexion contracture, Recur... ORPHA:1306
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Joint stiffness, Double-layered patella, A... ORPHA:166011
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Chondrocalcinosis, Hypercalciuria, Gene... ORPHA:99879
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Vascular calcification, Nephrocalcinosis, Decreased renal tubular phosphate excretion... OMIM:211900
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Mild short stature, Generalized joint laxity, Hip osteoarthritis, Ovoid vertebral bo... OMIM:132400
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Platyspondyly, Camptodactyly of finger, Enlarged interphalangeal joints, Joint swel... OMIM:208230
Distal Symphalangism
Camptodactyly of finger, Joint stiffness, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Osteochondrosis Of The Tarsal Bone
Chondritis, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal stippling, Antalgic gait, Oste... ORPHA:563991
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal dysplasia, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Genu valgum, Hypocalcemia, Osteolysis, Scoliosis, Abnormal form of the vertebra... ORPHA:93160
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited elbow extension, Dislocated radial head, Radioulnar synostosis OMIM:179300
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation, Avascular necrosis, Skeletal muscle atrophy, Delayed sk... ORPHA:2380
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Abnormality of the metacarpal bones, Joint stiffness, Genu valgu... ORPHA:2496
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Disproportionate short stature, Finger joint hypermobility, Gait disturbance, Knee j... ORPHA:93308
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... OMIM:178110
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Sparse hair, Carpal synostosis, Decreased body weight, Flared metaph... OMIM:615349
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Abn... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Upper ... OMIM:271650
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Toe syndactyly, Aplasia/Hyp... ORPHA:157801
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Irregular vertebral endplates, Intervertebral disk calcification, Schmor... OMIM:614135
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck,... ORPHA:2114
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Mild short stature, Limited knee extensio... OMIM:600969
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Congenital hip dislocation, Renal hypoplasia, Aminoaciduria, Calcinosis, Hydro... OMIM:617913
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Abnormality of the intervertebral disk, Cal... ORPHA:1416
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Short stature, Osteopenia, Obesity OMIM:264010
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Thickened Achilles tendon, Tendon rupture, Joint swelling, Mitral valve calcification, Interverte... ORPHA:56
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Lumbar hyperlordosis, Waddling gait, Short stature, Osteochondritis Dissecans... OMIM:165800
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Growth delay, Elevated circulating alkaline phosphatase concentra... OMIM:619073
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Mild short stature, Kyphosis, Increased susceptibility to fractures, Con... OMIM:130060
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Atresia of the external auditory canal, Bilateral conductive hearing impairmen... ORPHA:2010
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Hypophosphatemia, Delayed epiphyseal ossification, Rickets, Difficulty... OMIM:600081
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Calcification of the small brain vessels, Basal ganglia calcification, Dense calcifications in th... OMIM:114100
Brachydactyly Type B
Finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Synostosis of carpal bones, Broad ha... ORPHA:93383
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Radial head subluxatio... OMIM:186400
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp... ORPHA:2639
Multiple Synostoses Syndrome
Broad thumb, Conductive hearing impairment, Symphalangism affecting the phalanges of the hand, Jo... ORPHA:3237
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Finger syndactyly, Synosto... ORPHA:957
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Morphological abnormality of the middle ear, Abn... OMIM:182290
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Sparse hair, Synostos... ORPHA:1005
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the epiphyses of the elbow, Waddling gait, G... ORPHA:166002
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Conductive hearing impairment, Synostosis of carpals/... OMIM:157800
Otopalatodigital Syndrome, Type I
Scoliosis, Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, ... OMIM:311300
Renal Tubular Acidosis Iii
Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia OMIM:267200
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
Intervertebral disc degeneration, Thickened Achilles tendon, Mitral valve calcification, Limited ... OMIM:203500
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Isolated Cleft Lip
Polyhydramnios, Situs inversus totalis, Conductive hearing impairment, Chronic otitis media, Abno... ORPHA:199302
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Scoliosis, Hyperlordosis, Childhood onset short-limb short stature, Abnormal form of the vertebra... ORPHA:429
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Scoliosis, Genu recurvatum, Sparse scalp hair, Reduced bone mineral density, Ab... ORPHA:2611
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Camptodactyly, Aplasia/Hypoplasi... OMIM:113000
Osteochondrosis Of The Metatarsal Bone
Chondritis, Difficulty walking, Thickened cortex of bones, Progressive joint destruction, Joint s... ORPHA:564003
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Platyspondyly, Osteoarthritis, Short stature OMIM:271600
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morphology, Joint swelling, Enlar... ORPHA:1159
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight protei... OMIM:300554
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip subluxation, Recurrent fractures, Skeletal muscle atrophy, Hip dislocation OMIM:256720
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Hypercalcemia, Delayed skeletal maturation, Wrist pain OMIM:191420
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Osteoarthritis Susceptibility 3
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthritis of the distal i... OMIM:607850
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Ventricular septal defect, Contractures of the joints of the lower limbs, Recurrent ... ORPHA:513456
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Chronic otitis media, Conjunctivitis, Hepatitis, Se... ORPHA:47
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Radial head sublu... ORPHA:2634
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement, Short stepped shuffling gait ORPHA:86820
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Recurrent fractures, Aminoaciduria, Polyuria, Calcinosis, Hy... OMIM:239200
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Genu valgum, Intervertebral disc degeneration, Abnormal hip j... ORPHA:93311
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Short stature, Premature osteoarthritis... OMIM:105835
Epiphyseal Dysplasia, Multiple, 2
Mild short stature, Waddling gait, Genu varum, Knee osteoarthritis, Flattened knee epiphyses OMIM:600204
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Bilateral single tr... OMIM:113450
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Hypophosphatemia, Delayed epiphyseal ossification, Rickets, Difficulty... OMIM:241530
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Arterial calcification, Ectopic ossification ORPHA:280062
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Premature graying of hair, Synophrys, Clinodactyly, Cu... OMIM:148820
Stickler Syndrome Type 1
Short nose, Abnormal vitreous humor morphology, Joint hyperflexibility, Sensorineural hearing imp... ORPHA:90653
Dent Disease 1
Bone pain, Hypercalciuria, Chronic kidney disease, Delayed epiphyseal ossification, Renal insuffi... OMIM:300009
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Osteoporosis, Short stature, Elevated circulating creatine kinase conce... ORPHA:408
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Delayed epiphys... ORPHA:289157
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial calcif... ORPHA:289601
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Foot osteomyelitis, Sensorineural hearing impairment... OMIM:162400
Limited elbow extension, Limited hip extension, Generalized joint laxity, Conductive hearing impa... OMIM:100800
Otofacioosseous-Gonadal Syndrome
Short hallux, Wormian bones, Genu valgum, Posteriorly rotated ears, Inguinal hernia, Sensorineura... OMIM:601976
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Hyperostosis,... OMIM:604922
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Synophrys, Thick e... ORPHA:3268
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Proportionate short stature ORPHA:93283
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Short metatarsal, Tarsal synostosis, Radioulnar synostosis, Bilateral sens... OMIM:605282
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Renal insufficiency, Rickets, Generalized aminoaciduria, Proximal tubulopathy, ... OMIM:613388
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Abnormal dental enamel morphology, Hypoplasia of the radius, Toe syndact... ORPHA:3258
Ruvalcaba Syndrome
Scoliosis, Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Abnormality... ORPHA:3121
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Atrial septal defect, Preaxial hand polydactyly, Large earlobe, Abs... ORPHA:79113
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Camptodactyly of finger, Hyperlordosis, Synostosis of carpal bones, Finger syndactyly,... ORPHA:1323
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibil... OMIM:612287
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Abnormality of the vertebral column, Obesity ORPHA:2206
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Osteopetrosis, Facial paralysis, Increased bone m... OMIM:259700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Hypocalcemic seizures, Hypophosphatemia, Delayed epiphyseal ossificati... OMIM:264700
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Synostosis of carpal bones, Low-set, posteriorly rotated ears, Kyphosis, Bilateral sin... ORPHA:3191
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Joint swelling, A... ORPHA:66627
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Short stature, Intrauterine growth retardation, Arthritis ORPHA:1937
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Calcification of the aorta, Hyperphosphaturia, Hypocal... ORPHA:437
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoacidur... OMIM:618913
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Flexion contracture, Spinal rigidity, Falls, Elevated circulating creatine kinase c... OMIM:615883
Aicardi-Goutières Syndrome
Dystonia, Calcification of the aorta, Moyamoya phenomenon, Elevated hepatic transaminase, Difficu... ORPHA:51
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Bone pain, Osteomal... OMIM:193100
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Incre... OMIM:612286
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect, Macrotia OMIM:221950
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis OMIM:184300
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Hypocalcemic seizures, Hypophosphatemia, Delayed epiphyseal ossificati... OMIM:277440
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Pterygium, I... OMIM:259450
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility, Skeletal muscle atrophy ORPHA:3294
Familial Parathyroid Adenoma
Hypophosphatemia, Calcium nephrolithiasis, Renal insufficiency, Nephrocalcinosis, Hyperphosphatur... ORPHA:99877
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Widow'S Peak Syndrome
Mild short stature, Hip osteoarthritis, Kyphosis, Recurrent patellar dislocation, Short stature, ... OMIM:314570
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, External ear malformation, Dehydration, Conjunct... ORPHA:33110
Oculocerebrodental Syndrome
Scoliosis, Hypocalcemia, Hyperlordosis, Thoracic kyphosis, Abnormality of the frontal hairline, H... ORPHA:557003
Desbuquois Dysplasia 1
Scoliosis, Joint laxity, Phalangeal dislocation, Flat acetabular roof, Waddling gait, Advanced os... OMIM:251450
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Scoliosis, Osteoporosis, Delayed thelarche, Joint laxity, Delayed puberty, Short stature, Short neck OMIM:616033
Muenke Syndrome
Low anterior hairline, Broad thumb, Short middle phalanx of toe, Short middle phalanx of finger, ... OMIM:602849
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Hypophosphatasia, Infantile
Platyspondyly, Nephrocalcinosis, Craniosynostosis, Elevated plasma pyrophosphate, Elevated urine ... OMIM:241500
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Metacarpal 4-5 Fusion
Fused fourth and fifth metacarpals OMIM:309630
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Wide nasal bridge, Stenosis of the external auditory canal, Optic ... ORPHA:1513
Hypercalcemia, Infantile, 1
Lethargy, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Low posterior hairline,... ORPHA:2916
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Osteoporosis, Kyphosis, Failure to thrive, Myopathy OMIM:618234
Scoliosis, Irregular carpal bones, Joint laxity, Childhood onset short-limb short stature, Carpal... OMIM:177170
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Low posterior hairline, Abnormality of the vertebral column, Cervical C2... ORPHA:2345
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteolysis, Craniofacial osteosclerosis, Bone pain, Hyperostosis, Arthritis, Abnormality of the m... ORPHA:324964
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Low urinary cyclic ... ORPHA:79443
Hypophosphatasia, Childhood
Craniosynostosis, Elevated plasma pyrophosphate, Low alkaline phosphatase, Waddling gait, Short s... OMIM:241510
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, White hair, Cutaneous... ORPHA:896
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Dent Disease
Hematuria, Renal hypophosphatemia, Bone pain, Hypercalciuria, Chronic kidney disease, Delayed epi... ORPHA:1652
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Increas... ORPHA:79444
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Hypocalciuria, Bone pain, Osteomalacia, Hyp... OMIM:600740
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Elevated hepatic transaminase, Joint laxity, Growth delay, Failure to thrive, Kypho... OMIM:614727
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Pathologic fracture, Waddl... OMIM:156400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:248370
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hyperphosphaturia, Hypophosphatemic rickets, Genu varum, Medullary nephrocalcinosis,... OMIM:613312
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Conductive hearing impairment, Partial duplication of the distal phala... ORPHA:2669
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Cone-shaped epiphysis, Carpal synostosis, Sensorineu... ORPHA:53271
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Ivic Syndrome
Scoliosis, Limited wrist movement, Small thenar eminence, Hypoplasia of the radius, Short femur, ... OMIM:147750
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Renal tubular acidosis, Osteomalacia, Pathologic fracture, Nephrocalcinosis OMIM:179800
Kbg Syndrome
Scoliosis, Finger clinodactyly, Macrotia, Thoracic kyphosis, Persistent open anterior fontanelle,... ORPHA:2332
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Low ... OMIM:263540
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility, Ectopic calc... ORPHA:2762
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Delayed closure of the anterior fontanelle, Retinal calcification, Papilledema, Abn... OMIM:127000
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Premature osteoarthritis OMIM:184840
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Osteoarthritis, Abnormal metacarpal morphology ORPHA:166100
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Craniosynostosis, Abnormal hair morphology, Joint hyperflexibility, Chronic otitis med... ORPHA:2314
Peripheral Dysostosis
Osteoarthritis, Joint stiffness, Short stature ORPHA:1795
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Elbow dislocation, Flared iliac wing, Omphalocele, Increased bone m... ORPHA:90652
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Sensorineural hearing impairm... OMIM:272460
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormality of the vertebral endplates, Recurrent fractures, Generalized oste... OMIM:166600
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Glomerulonephritis, Glomerular baseme... OMIM:104200
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Delayed skeletal maturation, Papilledema, Cortical thickening of long bone... ORPHA:93325
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Abnormality of the intervertebral disk, Osteoarthritis, Joint stiffness ORPHA:1345
Distal Trisomy 14Q
Hearing impairment, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Small for gestational age, ... ORPHA:93360
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Joint dislocation, Short neck, Osteoarthritis, Obesity ORPHA:166024
Neuropathy, Hereditary Sensory, Type Ie
Hearing impairment, Sensorineural hearing impairment, Osteomyelitis OMIM:614116
Chondroectodermal Dysplasia With Night Blindness
Abnormality of the knee, Platyspondyly, Osteoporosis, Difficulty walking, Gait disturbance, Fract... ORPHA:319195
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Macrotia, Thin eyebrow, Shoulder dislocation, Knee dislocation, Mitral valve prolap... OMIM:618000
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Syringomyelia, Short neck, Butterfly v... OMIM:122600
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentrati... OMIM:307800
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Low posterior hairline, Conductive hearing impairment, Abnormality of the pinna, Cervi... OMIM:214300
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Sensorineural hearing impairment, Clinod... ORPHA:71289
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Spina... OMIM:271640
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Ectopic ossification, Myelopathy, Increased bone mineral density OMIM:602475
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Gaucher Disease
Hydrops fetalis, Hematuria, Arthrogryposis multiplex congenita, Bone pain, Increased bone mineral... ORPHA:355
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Platyspondyly, Wormian bones, Dislocated radial head, Joint hypermobility, Osteoporosi... OMIM:614856
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Osteoporosis, Kyphosis, Ataxia, Intrauterine growth retardati... ORPHA:48431
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Rickets, Distal renal tubular acidosis, Isothenuria, Hypokalemia, Nephrocalcinosis OMIM:611590
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Congenital hip dislocation, Radioulnar... ORPHA:3269
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Azoospermia, Mitral valve calcification, Limb ataxia, Papilledema, Ch... ORPHA:2072
Cockayne Syndrome Type 3
Neurogenic bladder, Premature graying of hair, Hydroureter, Skeletal muscle atrophy, Aortic root ... ORPHA:90324
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Attention deficit hyperactivity disorder, Arthritis OMIM:300310
Cardiospondylocarpofacial Syndrome
Abnormal form of the vertebral bodies, Conductive hearing impairment, Synostosis of carpal bones,... ORPHA:3238
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metatarsal, Bilateral external ear deformity, Acetabular d... ORPHA:93307
Stickler Syndrome, Type I
Membranous vitreous appearance, Conductive hearing impairment, Abnormality of femoral epiphysis, ... OMIM:108300
Brachydactyly Type A7
Medially deviated second toe, Short hallux, Aplasia/Hypoplasia of the middle phalanges of the han... ORPHA:93397
Anauxetic Dysplasia 1
Platyspondyly, Cervical cord compression, Delayed ossification of carpal bones, Hypoplastic ilia,... OMIM:607095
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy... ORPHA:3416
Osteochondritis Dissecans
Abnormality of the knee, Limited elbow extension, Abnormality of tibia morphology, Decreased hip ... ORPHA:2764
Progeroid Facial Appearance With Hand Anomalies
Sparse hair, Oligohydramnios, Conductive hearing impairment, Joint contracture of the 5th finger,... OMIM:602249
Aarskog-Scott Syndrome
Camptodactyly of finger, Broad palm, Genu recurvatum, Joint hyperflexibility, Finger syndactyly, ... ORPHA:915
Kniest Dysplasia
Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage col... ORPHA:485
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Iridocyclitis, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Joint laxity, Joint dislocation, Osteoarthritis OMIM:130020
Kbg Syndrome
Low anterior hairline, Macrotia, Thoracic kyphosis, Radial deviation of finger, Vertebral fusion,... OMIM:148050
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Low posterior hairline, Conductive hearing impair... OMIM:118100
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Overfolded helix, Ventricular septal... ORPHA:2876
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Overweight, Moderate hearing impairment, Short 5th ... ORPHA:370010
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Delayed ossification of carpal bones, Kyphosis, Decreased body weight, Posteriorly rota... OMIM:618392
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Foot osteomyelitis, Distal amyotrophy, Dystrophic toen... OMIM:600882
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Short toe, Atrial septal defect, Toe syndactyly, Radioulnar synostosis, M... ORPHA:921
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, C... OMIM:244600
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Camptodactyly, Joint contracture of the hand, K... OMIM:214150
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia, Abnormal vertebral mo... ORPHA:352540
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia, Rickets, Bone pain, Osteomalacia ORPHA:89937
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Delayed ossification of carpal bones, Delayed tarsal ossification, Short stature, Pr... OMIM:607078
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short long bone, Talipes equinovarus, Vertebral segmentation defect OMIM:618845
Hemochromatosis Type 2
Osteoporosis, Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeost... ORPHA:79230
Mucopolysaccharidosis Type 2
Papilledema, Sensorineural hearing impairment, Hyperactivity, Abnormal epiphyseal ossification, C... ORPHA:580
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostos... OMIM:185900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Short stature ORPHA:63442
Abnormality of the knee, Joint swelling, Abnormal cortical bone morphology, Joint stiffness, Ecze... ORPHA:1525
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, EMG: myopathic abnormalities, Abnormality of the middle ear ossicles, Preaxi... ORPHA:2549
Hyperphosphatasia With Mental Retardation Syndrome 6
Short neck, Growth delay, Flexion contracture, Osteopenia, Vascular dilatation, Elevated circulat... OMIM:616809
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Clinodactyly, Hip dislocation, Short neck, Short 5th ... OMIM:615583
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brachydactyly, Fused cervical ... ORPHA:1436
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Eiken Syndrome
Cubitus valgus, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip move... ORPHA:79106
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Conductive hearing impairment, Ca... OMIM:136760
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Conductive hearing impairment, Ectopic ... OMIM:135100
Trisomy 8P
Short fifth metatarsal, Peripheral pulmonary artery stenosis, Aplasia/Hypoplasia of the tragus, 3... ORPHA:264450
Osteogenesis Imperfecta, Type Xii
Scoliosis, Wormian bones, Osteoporosis, Generalized osteoporosis, Short stature OMIM:613849
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Joint contracture of the 5th finger, Wide nasal bridge, Short foot... OMIM:248910
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Hyperextensibility of the knee, Recurrent sinusitis, Hyperextensibility at e... OMIM:130000
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteoporosis, Delayed closure of the anterior fontanelle, Osteolytic defects of the di... OMIM:614008
Diastrophic Dysplasia
Costal cartilage calcification, Talipes equinovarus, Hypoplastic cervical vertebrae, Hitchhiker t... OMIM:222600
Juvenile Dermatomyositis
Skin rash, Pericarditis, Weight loss, Calcinosis, Elevated circulating C-reactive protein concent... ORPHA:93672
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion, Shoulder girdl... OMIM:606612
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Optic atrophy from cranial nerve co... ORPHA:210110
Hypophosphatemia, Renal tubular dysfunction, Rickets, Gait disturbance, Aminoaciduria, Nephropath... ORPHA:213
Branchiooculofacial Syndrome
Premature graying of hair, Overfolded helix, Sensorineural hearing impairment, Short thumb, Elbow... OMIM:113620
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Conduct... OMIM:171480
Myelomeningocele, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation ... ORPHA:66637
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Growth delay, Sc... ORPHA:289176
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification, Pneumonia ORPHA:85179
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Multiple Osteochondromas
Scoliosis, Genu valgum, Osteolysis, Elbow dislocation, Synostosis of joints, Madelung deformity, ... ORPHA:321
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Singleton-Merten Syndrome 1
Aortic valve calcification, Genu valgum, Osteoporosis, Hip subluxation, Expanded metacarpals with... OMIM:182250
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Facial hypotonia, Lower limb muscle weakness, Thoracic aortic aneur... ORPHA:365
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis, Short stature ORPHA:2786
Otospondylomegaepiphyseal Dysplasia
Polyhydramnios, Dumbbell-shaped femur, Enlarged joints, Short phalanx of finger, Flared femoral m... ORPHA:1427
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Abnormality of the middle ear ossicles, Biconcave ... OMIM:130720
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Primary Parathyroid Hyperplasia
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Bone pain, Hypercalciuria, Hypercalcemia, Rena... ORPHA:99878
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Aplasia/Hypoplasia of the middle ear, Elbow dislocation, Conductive hearing impairment, Atresia o... ORPHA:3236
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Joint stiffness ORPHA:2398
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Small epiphyses, Short femoral neck, Advanced ossific... OMIM:618363
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Decreased muscle mass, Enlarged joints, Joint laxity, Recurrent fractures, Short st... OMIM:248010
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Lattice retinal degeneration, Rhegmatogenous retinal detachment, Abnormal epi... OMIM:619248
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Asteroid hyalosis, Short phalanx of finger, Conductive hearing impairment, Retinal t... OMIM:132450
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615270
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Basal ganglia calcification OMIM:615361
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Cubitus valgus, Genu valgum, Congenital generalized lipodystrophy, Sparse facial h... OMIM:608154
Arteriosclerosis, Severe Juvenile
Calcification of the aorta, Dysplasia of second lumbar vertebra, Arteriosclerosis, Central retina... OMIM:208060
Laron Syndrome
Hypercholesterolemia, Abnormality of the elbow, Severe short stature, Truncal obesity, Delayed pu... ORPHA:633
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Bone pain, Hypercal... OMIM:612089
Isolated Brachycephaly
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Humeroradial synostosis, Tarsal synostosis, Carpal synostosis, Microtia OMIM:236410
Forsythe-Wakeling Syndrome
Osteoporosis, Growth delay, Short stature, Decreased body weight OMIM:613606
Bruck Syndrome
Scoliosis, Platyspondyly, Wormian bones, Osteoporosis, Arthrogryposis multiplex congenita, Kyphos... ORPHA:2771
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Generalized bone demineralization, Delayed epiphyseal os... ORPHA:93352
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Craniosynostosis, Abnormality o... ORPHA:949
Pfeiffer Syndrome
Hyperlordosis, Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Symphal... ORPHA:710
Ivic Syndrome
Scoliosis, Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis... ORPHA:2307
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive ... ORPHA:1435
Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Failure to thrive, Kyphoscoliosis, Intrauterine g... ORPHA:96183
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Gait ataxia, Flexion contracture of finger, Pigmentary retinopathy, Camptodactyly,... ORPHA:88628
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Synostosis involving bones of the upper limbs, Growth delay,... ORPHA:221016
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Short ... OMIM:215150
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis OMIM:606069
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Kyphosis, Back pain, Disproportionate short-trunk short stature, Flat acet... OMIM:271530
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Desbuquois Syndrome
Scoliosis, Camptodactyly of finger, Accelerated skeletal maturation, Abnormal femoral neck/head m... ORPHA:1425
Brachydactyly Type A1
Scoliosis, Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Gait disturbance, Recurrent fractures, Increased spinal bone density, Elevated circulating alkali... ORPHA:329475
Fibrous Dysplasia Of Bone
Scoliosis, Hypophosphatemia, Osteolysis, Patchy reduction of bone mineral density, Rickets, Diffi... ORPHA:249
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Familial Expansile Osteolysis
Osteolysis, Conductive hearing impairment, Hydroxyprolinuria, Bowing of the long bones, Bone pain... OMIM:174810
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... OMIM:166230
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Chorioretinal atroph... OMIM:303110
Majeed Syndrome
Skin rash, Osteomyelitis, Joint swelling, Flexion contracture, Bone pain, Hepatosplenomegaly, Del... OMIM:609628
Raine Syndrome
Hypophosphatemia, Highly arched eyebrow, Arthrogryposis multiplex congenita, Short nose, Hydroure... OMIM:259775
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Acromesomelia, B... ORPHA:968
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Absent brainstem auditory responses, Se... OMIM:617519
Variant Abeta2M Amyloidosis
Cardiovascular calcification, Wrist pain, Multiple bony cystic lesions, Knee pain, Spinal cord co... ORPHA:314652
Rothmund-Thomson Syndrome
Skin rash, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of the patella, Reduced bone m... ORPHA:2909
Trichorhinophalangeal Syndrome, Type I
Short metatarsal, Accelerated bone age after puberty, Leukonychia, Slow-growing hair, Ivory epiph... OMIM:190350
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Growth delay, Finger symphalangism, Calcinosis, Patellar hyp... ORPHA:221008
Immunodeficiency 12
Osteoporosis, Growth delay OMIM:615468
Mucopolysaccharidosis Type 3
Hirsutism, Coarse hair, Progressive inability to walk, Sensorineural hearing impairment, Increase... ORPHA:581
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Thickened Achilles tendon, Abnormal hip joint morphology, A... ORPHA:85438
Majeed Syndrome
Pustule, Inflammatory abnormality of the skin, Metaphyseal irregularity, Flexion contracture, Syn... ORPHA:77297
Pericarditis, Acute kidney injury, Calcinosis cutis, Chronic kidney disease, Myocarditis, Elevate... ORPHA:801
Ring Chromosome 21 Syndrome
Scoliosis, Narrow palm, Fused thoracic vertebrae, Thoracic hemivertebrae, Clinodactyly, Syndactyl... ORPHA:1445
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Lumbar hyperlordosis, Disproportionate sh... OMIM:313400
X-Linked Hypophosphatemia
Hypophosphatemia, Genu valgum, Craniosynostosis, Disproportionate short stature, Sacroiliac joint... ORPHA:89936
Spondyloepimetaphyseal Dysplasia, Missouri Type
Platyspondyly, Limited elbow extension, Rhizomelia, Irregular sclerotic endplates, Waddling gait,... OMIM:602111
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Bowing of the long b... OMIM:239000
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Osteoporosis, Kyphosis, Irregular vertebral endplates, Failure to thriv... OMIM:234250
Stapes Ankylosis With Broad Thumbs And Toes
Broad thumb, Toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Long nose, Short di... OMIM:184460
Peritonitis, Otitis externa, Bronchiectasis, Pleural effusion, Abnormal retinal morphology, Panni... ORPHA:228119
Wildervanck Syndrome
Low posterior hairline, Meningocele, Short neck, Fused cervical vertebrae, Congenital sensorineur... ORPHA:3456
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Bowing of the long bones, Recurrent fractures, ... ORPHA:667
Dermatoosteolysis, Kirghizian Type
Scoliosis, Osteolysis, Tarsal synostosis, Keratitis, Abnormality of the wrist, Osteoarthritis ORPHA:1657
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Disproportionate short-limb short stature, Delayed epiphyseal ossification OMIM:618618
Wildervanck Syndrome
Hearing impairment, Fused cervical vertebrae OMIM:314600
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Ramon Syndrome
Abnormality of retinal pigmentation, Osteolysis, Conductive hearing impairment, Sensorineural hea... ORPHA:3019
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Scoliosis, Hip dysplasia, Synostosis of joints, Macrotia, Hypoplastic inferior ilia, Kyphosis, Bo... ORPHA:61
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Rickets, Generalized aminoaciduria, Nephropathy, Glycosuria,... ORPHA:2088
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Clubbing, Knee pain, Periostosis OMIM:614441
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Arthropathy, Osteolytic defects of the phalanges of the hand, Hallux valgus OMIM:615632
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, EMG: myopathic abnormalities, Osteolysis, Abnormality of the vertebral column, Ele... ORPHA:52430
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Osteoporosis OMIM:617190
Sapho Syndrome
Osteolysis, Craniofacial osteosclerosis, Recurrent fractures, Synovitis, Enthesitis, Bone pain, H... ORPHA:793
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Oligohydramnios, Recurrent fractures, Limb undergrowth, Tibial bowing, Multif... ORPHA:453510
Pathologic fracture, Hypercalcemia, Bone pain ORPHA:55881
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cerebral calcification OMIM:146200
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:312150
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Decreased muscle mass, Generalized bone demineralization, Abnormal bone ossi... ORPHA:73230
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Recurrent fractures, Hearing impairment, Increa... OMIM:166200
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Recurrent fractures, Low alkaline phosphatase, Osteomalacia, Patholog... OMIM:146300
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Calcification of the aorta, Renal artery stenosis, Co... ORPHA:391665
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Cockayne Syndrome
Progressive sensorineural hearing impairment, Neurogenic bladder, Hyperuricemia, Cerebral calcifi... ORPHA:191
Nail-Patella Syndrome
Scoliosis, Abnormality of the elbow, Toe walking, Internal carotid artery hypoplasia, Antecubital... ORPHA:2614
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Chondrocalcinosis, Hypocalciuria, Renal hypophosphatemia, Osteo... ORPHA:405
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Flattened femoral head, Recurren... ORPHA:1822
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Protruding ear, Vesi... ORPHA:1166
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Synostosis of carpals/tarsals, Coales... OMIM:301940
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Peritonitis, Skin rash, Pericarditis, Abnormal sperm morphology, Pneumonia, Abnormality of the me... ORPHA:228123
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Chronic rhinitis due to narrow nasal airway, Recurrent fractures, Osteopetrosis, Fac... OMIM:259710
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Osteoma... OMIM:227810
Wild Type Abeta2M Amyloidosis
Macroglossia, Abnormality of the vertebral endplates, Bone cyst, Abnormality of the intervertebra... ORPHA:85446
Endocarditis, Pericarditis, Pneumonia, Pleural empyema, Septic arthritis, Sinusitis, Ectopic calc... ORPHA:449280
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, S... ORPHA:36234
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating ... OMIM:122860
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Dystonia, Microvesi... OMIM:256810
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Flexion contracture, Paresis of extensor muscles of the big toe, Quadriceps... ORPHA:99947
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Hydroureter, Camptodactyly, Patent ductus arteriosus, Metatarsus add... OMIM:201000
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Facial hypotonia, Joint laxity, Difficulty walking, Nephrocalcinosis OMIM:611087
Giant Cell Arteritis
Renal insufficiency, Vertigo, Hematuria, Pericarditis, Conductive hearing impairment, Ataxia, Hea... ORPHA:397
Gorlin Syndrome
Scoliosis, Palmar pits, Hemivertebrae, Vertebral fusion, Brachydactyly, Arachnodactyly, Vertebral... ORPHA:377
Peritonitis, Pericarditis, Acute kidney injury, Pneumonia, Jaundice, Myocarditis, Hepatic granulo... ORPHA:533
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Scoliosis, Patent ductus arteriosus, Ataxia, Ankle clonus, Hypercalciuria, Renal cy... OMIM:615398
Glycerol Kinase Deficiency
Osteoporosis, Lethargy, Muscular dystrophy, Growth delay, Hypertriglyceridemia, Pathologic fractu... OMIM:307030
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Conductive hearing impairment, Wide nasal bridge, Sensorineu... ORPHA:791
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Coronary artery atherosclerosis, Increased bone mineral densit... ORPHA:36913
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:253290
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Elevated circulating al... OMIM:610968
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Toe syndactyly, Finger syndactyly, Conductive hearing impairment, Joint hy... ORPHA:1001
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Bone pain, Hypercalciuria, Hypercalcemia, Rena... ORPHA:99880
Sialidosis Type 2
Osteoporosis, Kyphosis, Flexion contracture, Ataxia, Skeletal muscle atrophy, Short stature ORPHA:87876
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Talipes equinovarus, Sh... OMIM:274000
Hand-Foot-Genital Syndrome
Short hallux, Postaxial hand polydactyly, Synostosis of carpal bones, Hallux varus, Short 1st met... ORPHA:2438
Refractory Celiac Disease
Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated hepatic transaminase, Ele... ORPHA:398063
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Upper limb asymmetry, Elbow ankylosis, Abnormal... ORPHA:3266
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Hip subluxation, Wrist drop, Elbow flexion contracture, Joint sublu... ORPHA:1900
Glycoprotein Storage Disease
Gout OMIM:232900
Autosomal Dominant Hypocalcemia
Hypocalcemia, Writer's cramp, Reduced bone mineral density, Hypercalciuria, Hypermagnesiuria, Alo... ORPHA:428
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Nephropathy, Renal tubular aci... OMIM:613404
Hypophosphatemia, Scoliosis, Renal phosphate wasting, Severe platyspondyly, Flat acetabular roof,... OMIM:258480
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenos... OMIM:231005
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Gait disturbance, Reduced bone mineral ... ORPHA:2501
Marshall Syndrome
Genu valgum, Sparse hair, Short nose, Abnormal vitreous humor morphology, Wide nasal bridge, Sens... ORPHA:560
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Synovitis, Reduced bone mineral density, Progressive joint destruction, Symmetric... ORPHA:85435
Wilson Disease
Osteoporosis, Joint hypermobility, Cirrhosis, Dystonia, Hyperphosphaturia, Chondrocalcinosis, Hep... OMIM:277900
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Patellar dislocation OMIM:309610
Solitary Bone Cyst
Prominent calcaneus, Abnormality of tibia morphology, Muscular edema, Abnormality of the medullar... ORPHA:83468
Sheldon-Hall Syndrome
Scoliosis, Overlapping fingers, Tarsal synostosis, Adducted thumb, Aplasia/Hypoplasia of the radi... ORPHA:1147
Neuropathy, Hereditary Sensory, Type Id
Distal amyotrophy, Osteomyelitis, Nail dystrophy OMIM:613708
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Chronic oral can... OMIM:240300
Parathyroid Carcinoma
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Bone pain, Hypercalciuria, Hypercalcemia, Rena... ORPHA:143
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating aspartate aminotransferase concentration, Recurrent otitis media, Recurrent ... OMIM:615559
Trichorhinophalangeal Syndrome Type 2
Genu valgum, Conductive hearing impairment, Low-set, posteriorly rotated ears, Joint hyperflexibi... ORPHA:502
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Vertebral fusion, Lumbar hyperlordosis, B... ORPHA:313892
Abnormality of the knee, Osteoporosis, Osteomyelitis, Abnormal form of the vertebral bodies, Bone... ORPHA:2583
Oculodentodigital Dysplasia
Short hallux, Camptodactyly of finger, Aplasia/Hypoplasia of the middle phalanges of the hand, Pr... ORPHA:2710
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Lower limb pain, Hypercalcemia, Renal insufficiency OMIM:240150
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Generalized bone demineralization, Rickets, Knee pain, Rickets of the lower limbs, T... OMIM:600785
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Asymmetric Short Stature Syndrome