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 |
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Inability to walk, Hepatomegaly, Difficulty walking, Basilar artery calcification, Transient isch... |
ORPHA:365 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Joint contracture of the... |
OMIM:248910 |
Beukes Hip Dysplasia |
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Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Microphthalmia With Limb Anomalies |
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Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... |
ORPHA:1106 |
Trisomy 8P |
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Multiple joint contractures, Short fourth metatarsal, Clinodactyly of the 4th toe, Short 1st meta... |
ORPHA:264450 |
Mucopolysaccharidosis Type 2 |
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Abnormal mitral valve morphology, Hepatomegaly, Retinal degeneration, Optic atrophy, Abnormal hea... |
ORPHA:580 |
Humeroradial Synostosis With Craniofacial Anomalies |
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Carpal synostosis, Microtia, Small earlobe, Tarsal synostosis, Humeroradial synostosis |
OMIM:236410 |
Intermediate Osteopetrosis |
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Recurrent fractures, Cortical sclerosis, Osteomyelitis, Cranial nerve compression, Osteosclerosis... |
ORPHA:210110 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, In... |
ORPHA:289176 |
Symphalangism, Distal |
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Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesome... |
OMIM:171480 |
Frontonasal Dysplasia 1 |
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Conductive hearing impairment, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot,... |
OMIM:136760 |
Hemochromatosis, Type 4 |
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Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Elevated t... |
OMIM:606069 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Accelerated skeletal maturation, Genu valgum, Small epiphyses, Short long bone, Advanced ossifica... |
OMIM:618363 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Conductive hearing impairment, Increased skull ossification, Pneumonia |
ORPHA:85179 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hypokalemia, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Rickets |
OMIM:611590 |
Hypocalcemia, Autosomal Dominant 2 |
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Hypocalcemia, Basal ganglia calcification |
OMIM:615361 |
Symbrachydactyly Of Hands And Feet |
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Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Scleroderma |
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Keratitis, Calcinosis cutis, Stroke, Alopecia, Myocarditis, Brachial plexus neuropathy, Osteolyti... |
ORPHA:801 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
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Enlarged joints, Recurrent fractures, Short stature, Osteoporosis, Joint laxity, Decreased muscle... |
OMIM:248010 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Sensorineural hearing impairment, Slender build, Failure to thrive, Slender long bones with narro... |
OMIM:608154 |
Multiple Symmetric Lipomatosis |
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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 |
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Clinodactyly of the 5th finger, Short neck, Synostosis of carpal bones, Symphalangism affecting t... |
ORPHA:710 |
Slipped Femoral Capital Epiphyses |
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Hip osteoarthritis |
OMIM:182260 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Loss of ambulation, Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Pelvic girdle ... |
OMIM:167320 |
Laron Syndrome |
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Severe short stature, Osteoarthritis, Truncal obesity, Delayed puberty, Hypercholesterolemia, Abn... |
ORPHA:633 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Sensorineural hearing impairment, Enlarged joints, Flexion contracture, Mixed hearing impairment,... |
OMIM:215150 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia, Alopecia, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic defec... |
ORPHA:90154 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Abnormal circulating calcium concentration, Basal ganglia calcification, Calcification of the sma... |
OMIM:213600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
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Short stature, Short neck, Scoliosis, Osteoporosis, Joint laxity, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Ataxia, Osteomyelitis, Flexion contracture of finger, Truncal titubation, Rod-cone dystrophy, Pig... |
ORPHA:88628 |
Branchiooculofacial Syndrome |
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Sparse hair, Overfolded helix, White forelock, Clinodactyly of the 5th finger, Microtia, Elbow fl... |
OMIM:113620 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
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Conductive hearing impairment, Clinodactyly of the 5th finger, Atresia of the external auditory c... |
ORPHA:3236 |
Otospondylomegaepiphyseal Dysplasia |
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Sensorineural hearing impairment, Enlarged joints, Tibial bowing, Short metacarpal, Abnormally os... |
ORPHA:1427 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Rhegmatogenous retinal detachment, Lattice retinal degeneration, Brachydactyly, Hip osteoarthriti... |
OMIM:619248 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Conductive hearing impairment, Brachydactyly, Short phalanx of finger, Retinal thinning, Asteroid... |
OMIM:132450 |
Forsythe-Wakeling Syndrome |
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Growth delay, Decreased body weight, Osteoporosis, Short stature |
OMIM:613606 |
Bruck Syndrome |
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Recurrent fractures, Joint stiffness, Kyphosis, Short stature, Platyspondyly, Scoliosis, Wormian ... |
ORPHA:2771 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Delayed epiphyseal ossification, Squared-off platyspondyly, Severe short stature, Narrow vertebra... |
ORPHA:93352 |
Xq21 Microdeletion Syndrome |
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Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... |
ORPHA:1435 |
Autosomal Recessive Malignant Osteopetrosis |
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Bone pain, Recurrent fractures, Abnormal pulmonary valve morphology, Abnormality of hair texture,... |
ORPHA:667 |
Multiple Pterygium Syndrome, X-Linked |
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Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... |
OMIM:312150 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Chromosome Xq21 Deletion Syndrome |
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Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... |
OMIM:303110 |
Ivic Syndrome |
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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 |
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Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Ri... |
OMIM:616026 |
Variant Abeta2M Amyloidosis |
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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 |
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Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Hemochromatosis Type 2 |
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Increased circulating ferritin concentration, Osteoporosis, Abnormality of iron homeostasis, Elev... |
ORPHA:79230 |
Pgm3-Cdg |
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Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Osteomyelitis, Vasculiti... |
ORPHA:443811 |
Rothmund-Thomson Syndrome Type 2 |
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Joint dislocation, Small for gestational age, Short stature, Osteopenia, Synostosis involving bon... |
ORPHA:221016 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
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Oligoarthritis, Back pain, Abnormal thoracic spine morphology, Abnormality of the vertebral colum... |
ORPHA:85438 |
Arteriosclerosis, Severe Juvenile |
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Short stature, Calcification of the aorta, Central retinal vessel vascular tortuosity, Delayed pu... |
OMIM:208060 |
Talo-Patello-Scaphoid Osteolysis |
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Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis |
ORPHA:50809 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Bone pain, Ri... |
OMIM:612089 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
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Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... |
ORPHA:329475 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Genu varum, Limited elbow extension... |
OMIM:602111 |
Brachyolmia Type 1, Hobaek Type |
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Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Majeed Syndrome |
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Metaphyseal irregularity, Osteomyelitis, Inflammatory abnormality of the skin, Increased bone min... |
ORPHA:77297 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Short stature, Platyspondyly, Abnormality of the ankles, Disproportionate short-trunk short statu... |
ORPHA:163665 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... |
OMIM:154275 |
Morgagni-Stewart-Morel Syndrome |
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Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Acne, Hyperuricemia, Hypercholester... |
ORPHA:77296 |
Genetic Recurrent Myoglobinuria |
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Dark urine, Recurrent myoglobinuria, Hypocalcemia, Type 2 muscle fiber atrophy, Myositis, Lower l... |
ORPHA:99845 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Joint stiffness, Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the an... |
ORPHA:968 |
Hall-Riggs Mental Retardation Syndrome |
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Irregular vertebral endplates, Failure to thrive, Kyphosis, Platyspondyly, Scoliosis, Osteoporosi... |
OMIM:234250 |
Neuropathy, Hereditary Sensory, Type Id |
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Autoamputation of digits, Osteomyelitis, Nail dystrophy, Distal lower limb amyotrophy |
OMIM:613708 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Type 2 mu... |
OMIM:617519 |
Rothmund-Thomson Syndrome |
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Skin rash, Reduced bone mineral density, Small for gestational age, Osteopenia, Short stature, Ap... |
ORPHA:2909 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Ataxia, Hepatomegaly, Retinal degeneration, Otitis media, Coars... |
ORPHA:581 |
Immunodeficiency 12 |
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Growth delay, Osteoporosis |
OMIM:615468 |
Multiple Pterygium Syndrome, Lethal Type |
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Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... |
OMIM:253290 |
Maternal Uniparental Disomy Of Chromosome 9 |
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Hamstring contractures, Failure to thrive, Kyphoscoliosis, Intrauterine growth retardation, Elbow... |
ORPHA:96183 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Narrow palm, Clinodactyly, Thoracic ... |
ORPHA:1445 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Disproportionate short-limb short stature, Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
Fibrous Dysplasia Of Bone |
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Hypophosphatemia, Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase conce... |
ORPHA:249 |
Familial Expansile Osteolysis |
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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 |
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Lumbar hyperlordosis, 2-3 toe syndactyly, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
Craniosynostosis, Adelaide Type |
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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 |
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Elevated circulating alkaline phosphatase concentration, Calvarial hyperostosis, Short stature, E... |
ORPHA:52430 |
Gorlin Syndrome |
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Arachnodactyly, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral wedging, Palmar pits, Vertebra... |
ORPHA:377 |
Perrault Syndrome 1 |
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Ataxia, Short stature, Scoliosis, Osteoporosis, Gait ataxia |
OMIM:233400 |
Giant Cell Arteritis |
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Conductive hearing impairment, Joint stiffness, Ataxia, Double outlet right ventricle with subpul... |
ORPHA:397 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Osteopenia, Thoracic kyphoscoliosis, Aortic dissection, Hip subluxation, Limb muscle weakness, Pa... |
ORPHA:1900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Ataxia, Ankle clonus, Osteopenia, Scoliosis, Ureteral stenosis, Hypercalciuria, Osteoporosis, Ren... |
OMIM:615398 |
Glycoprotein Storage Disease |
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Gout |
OMIM:232900 |
Retinitis Pigmentosa |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... |
ORPHA:791 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Joint stiffness, Protruding ear, Congenital diaphragmatic hernia, Multiple renal cysts, Tetralogy... |
ORPHA:1166 |
Hypomagnesemia 3, Renal |
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Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Solitary Bone Cyst |
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Lytic defects of the radius, Muscular edema, Abnormal humeral diaphysis morphology, Abnormality o... |
ORPHA:83468 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Reduced bone mineral density, Scoliosis, Genu varum, Hyperlordosis, Gait disturbance, Disproporti... |
ORPHA:2501 |
Oculodentodigital Dysplasia |
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Ataxia, Clinodactyly of the 5th finger, Finger syndactyly, Cerebral calcification, Camptodactyly ... |
ORPHA:2710 |
Kniest Dysplasia |
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Enlarged joints, Conductive hearing impairment, Hip contracture, Delayed epiphyseal ossification,... |
OMIM:156550 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Kyphosis, Abnormal hip bone morphology, Short neck, Hyperlordosis, Fused cervical vertebrae, Spin... |
ORPHA:2522 |
Osteopetrosis, Autosomal Recessive 2 |
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Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Chronic rhini... |
OMIM:259710 |
Mycetoma |
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Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal ... |
ORPHA:2583 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Genu varum, ... |
OMIM:600785 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Joint swelling, Progressive joint destruction, Elevated circulating C-reactive protein concentrat... |
ORPHA:85435 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Failure to thrive, Hyperlipidemia, Short stature, Osteopenia, Osteoporosis, Elevated hepatic tran... |
ORPHA:369 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Nephrolithiasis, Hypophosphatemia, Chondrocalcinosis, Nephroblastoma, Osteoporosis, Hypercalciuri... |
ORPHA:99880 |
Peroxisome Biogenesis Disorder 10B |
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Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Complement Component C1R/C1S Deficiency |
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Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Cerebrooculofacioskeletal Syndrome 1 |
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Failure to thrive, Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Small for ... |
OMIM:214150 |
Osteogenesis Imperfecta, Type Xi |
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Kyphoscoliosis, Elevated circulating alkaline phosphatase concentration, Short stature, Osteopeni... |
OMIM:610968 |
Sheldon-Hall Syndrome |
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Vertebral segmentation defect, Joint stiffness, Protruding ear, Abnormal hip bone morphology, Add... |
ORPHA:1147 |
Trichorhinophalangeal Syndrome Type 2 |
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Sparse scalp hair, Conductive hearing impairment, Protruding ear, Cone-shaped epiphyses of the ph... |
ORPHA:502 |
Asymmetric Short Stature Syndrome |
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Lumbar scoliosis, Fused cervical vertebrae, Hemihypotrophy of lower limb |
OMIM:108450 |
Calvarial Doughnut Lesions With Bone Fragility |
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Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Severe short statur... |
OMIM:126550 |
Prieto Syndrome |
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Patellar dislocation, Osteoporosis, Patellar subluxation |
OMIM:309610 |
Hypophosphatasia, Adult |
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Recurrent fractures, Chondrocalcinosis, Osteomalacia, Low alkaline phosphatase, Pathologic fractu... |
OMIM:146300 |
Pseudoaminopterin Syndrome |
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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 |
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Perifoveal ring of hyperautofluorescence, Alopecia universalis, Iridocyclitis, Chronic active hep... |
OMIM:240300 |
2Q37 Microdeletion Syndrome |
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Sparse scalp hair, Conductive hearing impairment, Clinodactyly of the 5th finger, Short metacarpa... |
ORPHA:1001 |
Hypervitaminosis A, Susceptibility To |
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