Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Calvarial Hyperostosis |
|
Calvarial hyperostosis |
OMIM:302030 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Camurati-Engelmann Disease, Type 2 |
|
Hyperostosis, Hip contracture, Knee flexion contracture, Osteopenia |
OMIM:606631 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Limited elbow extension, Hyperostosis |
OMIM:604922 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis |
OMIM:614441 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Hyperostosis, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis |
ORPHA:324964 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Multiple enchondromatosis, Osteolysis |
ORPHA:296 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones |
OMIM:114000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation |
OMIM:211900 |
Sapho Syndrome |
|
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... |
ORPHA:793 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal bone ossification, Hyperostosis, Generalized bone demineralization |
ORPHA:73230 |
Familial Calcium Pyrophosphate Deposition |
|
Calcification of cartilage, Osteoarthritis, Arthritis, Limitation of joint mobility |
ORPHA:1416 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
Hyperostosis Frontalis Interna |
|
Hyperostosis frontalis interna |
OMIM:144800 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormal cartilage morphology, Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossif... |
ORPHA:93284 |
Proteus Syndrome |
|
Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Facial hyperostosis |
OMIM:176920 |
Hypophosphatemic Rickets |
|
Fibrous dysplasia of the bones, Rickets, Hyperostosis, Patchy variation in bone mineral density, ... |
ORPHA:437 |
Familial Tumoral Calcinosis |
|
Hyperostosis |
ORPHA:53715 |
Proteus-Like Syndrome |
|
Hyperostosis |
ORPHA:2969 |
Oculodentodigital Dysplasia |
|
Cranial hyperostosis, Hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger |
ORPHA:2710 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix |
OMIM:245650 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density |
OMIM:231095 |
Juvenile Paget Disease |
|
Cranial hyperostosis, Recurrent fractures, Osteoporosis, Coarse metaphyseal trabecularization |
ORPHA:2801 |
Sturge-Weber Syndrome |
|
Hyperostosis |
ORPHA:3205 |
Hyperostosis Cranialis Interna |
|
Calvarial hyperostosis, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull |
OMIM:144755 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bone structure, Epiphysea... |
ORPHA:86822 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... |
OMIM:259710 |
Kniest Dysplasia |
|
Hip contracture, Delayed epiphyseal ossification, Abnormal cartilage collagen, Limitation of join... |
OMIM:156550 |
Camurati-Engelmann Disease |
|
Craniofacial osteosclerosis, Hyperostosis, Cortical thickening of long bone diaphyses, Limitation... |
ORPHA:1328 |
Wiskott-Aldrich Syndrome |
|
Hyperostosis, Arthritis |
ORPHA:906 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage matrix, Abnormal cartilage morphology |
ORPHA:2347 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis |
OMIM:112350 |
Kniest Dysplasia |
|
Laryngotracheomalacia, Delayed epiphyseal ossification, Abnormal bone structure, Fused cervical v... |
ORPHA:485 |
Alkaptonuria |
|
Cartilage destruction, Arthritis, Reduced bone mineral density, Calcification of cartilage, Joint... |
ORPHA:56 |
Proteus Syndrome |
|
Calvarial hyperostosis, Hyperostosis, Craniosynostosis, Joint stiffness |
ORPHA:744 |
Moderate Hemophilia A |
|
Synovitis, Hip contracture, Joint hemorrhage, Cartilage destruction, Limitation of joint mobility |
ORPHA:169805 |
Juvenile Idiopathic Arthritis |
|
Joint stiffness, Cartilage destruction, Arthritis |
ORPHA:92 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis |
ORPHA:77296 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Calvarial hyperostosis, Osteopenia |
OMIM:612714 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... |
ORPHA:89936 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Bone cyst, Craniofacial hyperostosis, Osteolysis |
ORPHA:2396 |
Adult-Onset Still Disease |
|
Cartilage destruction, Arthritis |
ORPHA:829 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis |
ORPHA:457240 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes |
OMIM:256050 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis |
OMIM:601345 |
Reactive Arthritis |
|
Arthritis, Cartilage destruction, Osteomyelitis, Joint stiffness, Enthesitis |
ORPHA:29207 |
Keutel Syndrome |
|
Calcification of cartilage |
ORPHA:85202 |
Multiple Osteochondromas |
|
Arthritis, Abnormal bone structure, Limited hip movement, Limitation of joint mobility, Abnormal ... |
ORPHA:321 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Cranial hyperostosis |
OMIM:612918 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... |
ORPHA:2658 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage |
ORPHA:3348 |
Oculodentodigital Dysplasia |
|
Vertebral hyperostosis, Joint contracture of the 5th finger |
OMIM:164200 |
Alpha-Mannosidosis, Infantile Form |
|
Cortical thickening of long bone diaphyses, Joint laxity, Craniosynostosis, Osteopenia, Joint sti... |
ORPHA:309282 |
Lead Poisoning |
|
Cranial hyperostosis |
ORPHA:330015 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Reduced bone mineral density |
ORPHA:466926 |
Potocki-Shaffer Syndrome |
|
Decreased skull ossification |
ORPHA:52022 |
Exostoses, Multiple, Type Ii |
|
|
OMIM:133701 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
|
OMIM:616682 |