Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Buschke-Ollendorff Syndrome |
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Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
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Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
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 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Craniodiaphyseal Dysplasia |
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Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
Distal Osteosclerosis |
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Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Van Buchem Disease |
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Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
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Osteoporosis, Osteopenia |
OMIM:615271 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Isolated Osteopoikilosis |
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Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Endosteal Hyperostosis, Worth Type |
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Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteopetrosis, Autosomal Dominant 1 |
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Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Flynn-Aird Syndrome |
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Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Osteosclerosis With Ichthyosis And Fractures |
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Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Melorheostosis |
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Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Osteochondrosis Of The Metatarsal Bone |
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Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
Sclerosteosis |
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Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Mueller-Weiss Syndrome |
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Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Endosteal Hyperostosis, Autosomal Dominant |
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Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Osteopetrosis, Autosomal Dominant 2 |
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Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Intermediate Osteopetrosis |
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Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Axial Osteomalacia |
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Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Dysplastic Cortical Hyperostosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Gnathodiaphyseal Dysplasia |
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Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
Ghosal Hematodiaphyseal Dysplasia |
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Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density |
OMIM:231095 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
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Osteopetrosis |
OMIM:600329 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Chondrodysplasia, Blomstrand Type |
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Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Osteogenesis Imperfecta, Type Xiii |
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Joint hypermobility, Osteoporosis, Increased bone mineral density |
OMIM:614856 |
Buschke-Ollendorff Syndrome |
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Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... |
OMIM:259700 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Albers-Schönberg Osteopetrosis |
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Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent fractur... |
ORPHA:53 |
Diastrophic Dysplasia |
|
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger |
ORPHA:628 |
Dysosteosclerosis |
|
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... |
ORPHA:1782 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... |
OMIM:259710 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density |
OMIM:239000 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... |
OMIM:112250 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Majeed Syndrome |
|
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... |
ORPHA:77297 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Gaucher Disease Type 1 |
|
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis |
ORPHA:77259 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... |
OMIM:224300 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Pycnodysostosis |
|
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... |
ORPHA:763 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Increased bone mineral density, Cortical thickening of long bone diaphys... |
OMIM:131300 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
Desmosterolosis |
|
Osteopetrosis, Increased bone mineral density |
ORPHA:35107 |
Werner Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... |
ORPHA:89936 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Sclerosis of hand bone |
ORPHA:2905 |
Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... |
ORPHA:90652 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... |
ORPHA:2658 |
Trichothiodystrophy |
|
Multiple joint contractures, Craniosynostosis, Increased bone mineral density, Osteopenia |
ORPHA:33364 |
Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Osteoporosis, Arthrogr... |
ORPHA:800 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density |
OMIM:259775 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis |
OMIM:618476 |
Gaucher Disease |
|
Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomyelitis, Increased... |
ORPHA:355 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Gaucher Disease Type 3 |
|
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis |
ORPHA:77261 |
Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Increased bone mineral density, Ectopic ossification, Reduced bon... |
ORPHA:79443 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Erdheim-Chester Disease |
|
Osteolysis, Increased bone mineral density, Osteomyelitis |
ORPHA:35687 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis |
OMIM:259720 |
Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Cleidocranial Dysplasia |
|
Increased susceptibility to fractures, Delayed pubic bone ossification, Increased bone mineral de... |
OMIM:119600 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... |
OMIM:269500 |
Atypical Werner Syndrome |
|
Osteoporosis, Sclerosis of hand bone, Reduced bone mineral density, Increased bone mineral densit... |
ORPHA:79474 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Williams Syndrome |
|
Joint laxity, Osteoporosis, Osteopenia, Synostosis of joints, Increased bone mineral density, Joi... |
ORPHA:904 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Osteopetrosis, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Osteopetrosis |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones |
OMIM:269150 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Joint stiffness, Osteolytic defects of the phalanges of the hand, Flexion contracture, Osteopenia |
OMIM:619127 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90153 |