Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis |
OMIM:166700 |
Melorheostosis With Osteopoikilosis |
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Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Dentin Dysplasia |
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Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Osteosclerotic Metaphyseal Dysplasia |
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Increased bone mineral density, Clavicular sclerosis, Failure to thrive |
OMIM:615198 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density |
ORPHA:75325 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Melorheostosis, Isolated |
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Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Melorheostosis |
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Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Atyp... |
ORPHA:2485 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Isolated Osteopoikilosis |
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Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ... |
ORPHA:166119 |
Hyperostosis Corticalis Generalisata |
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Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Van Buchem Disease |
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Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density, Obesity |
OMIM:618406 |
Endosteal Hyperostosis, Worth Type |
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Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Flynn-Aird Syndrome |
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Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Distal Osteosclerosis |
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Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Sclerosteosis |
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Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Mueller-Weiss Syndrome |
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Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Dysplastic Cortical Hyperostosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... |
OMIM:144750 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Intermediate Osteopetrosis |
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Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... |
ORPHA:210110 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Buschke-Ollendorff Syndrome |
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Flexion contracture, Recurrent fractures, Connective tissue nevi, Arthritis, Osteopoikilosis, Gen... |
ORPHA:1306 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
Paget Disease Of Bone 3 |
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Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
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Osteopetrosis |
OMIM:600329 |
Osteopetrosis, Autosomal Recessive 4 |
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Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Osteogenesis Imperfecta, Type Xiii |
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Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... |
OMIM:614856 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Schnitzler Syndrome |
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Increased bone mineral density, Arthritis |
ORPHA:37748 |
Chondrodysplasia, Blomstrand Type |
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Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Failure t... |
OMIM:259700 |
Dysosteosclerosis |
|
Recurrent fractures, Increased bone mineral density, Coarse metaphyseal trabecularization, Cranio... |
ORPHA:1782 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... |
ORPHA:77297 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
Tricho-Dento-Osseous Syndrome |
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Dental enamel pits, Increased bone mineral density, Enamel hypomineralization |
ORPHA:3352 |
Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... |
ORPHA:93284 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... |
ORPHA:53 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... |
ORPHA:85188 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Ankylosis, Failure to thrive, Macular scar, ... |
OMIM:239000 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Reduced subcutaneous adipose tissue, Cortical thickening of long ... |
OMIM:131300 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis, Mandibular ... |
OMIM:259710 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Werner Syndrome |
|
Chondrocalcinosis, Increased bone mineral density, Lipodystrophy, Slender build, Lipoatrophy, Joi... |
ORPHA:902 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Pycnodysostosis |
|
Increased susceptibility to fractures, Enamel hypoplasia, Coronal craniosynostosis, Increased bon... |
ORPHA:763 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Osteopenia, Pathologic fracture, Osteoarthritis |
ORPHA:77259 |
Poems Syndrome |
|
Weight loss, Sclerosis of foot bone, Lipodystrophy, Sclerosis of hand bone, Sclerosis of skull base |
ORPHA:2905 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Massively thickened long bone ... |
ORPHA:1798 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... |
OMIM:224300 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Failure to thrive |
ORPHA:35107 |
X-Linked Hypophosphatemia |
|
Vertebral hyperostosis, Cellulitis, Enthesitis, Arthritis, Limitation of joint mobility, Generali... |
ORPHA:89936 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... |
ORPHA:2658 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification |
OMIM:618476 |
Trichothiodystrophy |
|
Enamel hypoplasia, Multiple joint contractures, Increased bone mineral density, Osteopenia, Crani... |
ORPHA:33364 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count |
OMIM:259720 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Hip contracture, Decreased body weight, Increased bone mineral density... |
ORPHA:800 |
12Q14 Microdeletion Syndrome |
|
Failure to thrive, Osteopoikilosis |
ORPHA:94063 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age |
OMIM:127000 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
Raine Syndrome |
|
Enamel hypoplasia, Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis m... |
OMIM:259775 |
Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Ectopic ossification, Hyperostosis frontalis interna, Increased bone mineral d... |
ORPHA:79443 |
Desmosterolosis |
|
Failure to thrive, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contract... |
OMIM:602398 |
Erdheim-Chester Disease |
|
Weight loss, Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Increased bone mineral density, Obesity, Ectopic ossification |
ORPHA:79444 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Decreased body weight, Lipoatrophy, Increased bo... |
ORPHA:79474 |
Gaucher Disease |
|
Osteomyelitis, Recurrent fractures, Increased bone mineral density, Osteolysis, Osteopenia, Abnor... |
ORPHA:355 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Abnormal dental enamel morphology |
ORPHA:2323 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Enamel hypoplasia, Increased sus... |
OMIM:119600 |
Primary Hyperoxaluria |
|
Failure to thrive, Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Williams Syndrome |
|
Increased bone mineral density, Radioulnar synostosis, Joint laxity, Synostosis of joints, Inguin... |
ORPHA:904 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Craniosynostosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Failure to thrive, Sclerosis of skull base, Increased density of ... |
OMIM:269150 |