Superior Transverse Scapular Ligament, Calcification Of, Familial |
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Ectopic ossification in ligament tissue |
OMIM:601708 |
Cystic Angiomatosis Of Bone, Diffuse |
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Cystic angiomatosis of bone |
OMIM:123880 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
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Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
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Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Ribbing Disease |
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Diaphyseal sclerosis |
OMIM:601477 |
Melorheostosis, Isolated |
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Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
Buschke-Ollendorff Syndrome |
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Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density |
ORPHA:75325 |
Distal Osteosclerosis |
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Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteomesopyknosis |
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Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Melorheostosis With Osteopoikilosis |
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Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Van Buchem Disease |
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Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Osteopetrosis, Autosomal Dominant 1 |
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Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Osteosclerosis With Ichthyosis And Fractures |
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Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Endosteal Hyperostosis, Worth Type |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Isolated Osteopoikilosis |
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Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
Melorheostosis |
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Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Flynn-Aird Syndrome |
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Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Sclerosteosis |
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Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Osteochondrosis Of The Metatarsal Bone |
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Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Osteoporosis, Juvenile |
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Osteoporosis |
OMIM:259750 |
Osteosclerotic Metaphyseal Dysplasia |
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Clavicular sclerosis |
OMIM:615198 |
Mueller-Weiss Syndrome |
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Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Axial Osteomalacia |
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Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
Dysplastic Cortical Hyperostosis |
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Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
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Osteopetrosis |
OMIM:600329 |
Intermediate Osteopetrosis |
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Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
Paget Disease Of Bone 3 |
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Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Chondrodysplasia, Blomstrand Type |
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Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Osteogenesis Imperfecta, Type Xiii |
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Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
Buschke-Ollendorff Syndrome |
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Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Schnitzler Syndrome |
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Increased bone mineral density, Arthritis |
ORPHA:37748 |
Otopalatodigital Syndrome Type 1 |
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Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... |
ORPHA:90650 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Osteosclerosis of the base of the skull, Subperiosteal bone formation |
OMIM:609993 |
Dysosteosclerosis |
|
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... |
ORPHA:1782 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Osteopetrosis, Autosomal Recessive 1 |
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Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Albers-Schönberg Osteopetrosis |
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Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... |
ORPHA:53 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... |
ORPHA:93284 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Diastrophic Dysplasia |
|
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density |
ORPHA:628 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... |
OMIM:259710 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Generalized osteoporosis, Osteoporosis |
OMIM:601220 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Pseudohypoparathyroidism Type 1B |
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Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density |
ORPHA:94089 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Recurrent fractures, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis |
OMIM:239000 |
Majeed Syndrome |
|
Osteomyelitis, Increased bone mineral density, Flexion contracture, Increased susceptibility to f... |
ORPHA:77297 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... |
ORPHA:2780 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis |
ORPHA:77259 |
Dysosteosclerosis |
|
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... |
OMIM:224300 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... |
OMIM:131300 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis |
OMIM:259730 |
Pycnodysostosis |
|
Increased bone mineral density, Coronal craniosynostosis, Generalized osteosclerosis, Joint laxit... |
ORPHA:763 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
Werner Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count |
OMIM:259720 |
Desmosterolosis |
|
Osteopetrosis, Increased bone mineral density |
ORPHA:35107 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... |
ORPHA:89936 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of hand bone, Sclerosis of foot bone |
ORPHA:2905 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... |
ORPHA:2658 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... |
ORPHA:90652 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis |
OMIM:618476 |
Trichothiodystrophy |
|
Multiple joint contractures, Osteopenia, Increased bone mineral density, Craniosynostosis |
ORPHA:33364 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Schwartz-Jampel Syndrome |
|
Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... |
ORPHA:800 |
Raine Syndrome |
|
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation |
OMIM:259775 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
Gaucher Disease |
|
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Osteopenia, ... |
ORPHA:355 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Gaucher Disease Type 3 |
|
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures |
ORPHA:77261 |
Erdheim-Chester Disease |
|
Osteomyelitis, Osteolysis, Increased bone mineral density |
ORPHA:35687 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Increased bone mineral density, Hyperostosis frontalis interna, Reduced bon... |
ORPHA:79443 |
Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
Atypical Werner Syndrome |
|
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Progressive clavicula... |
ORPHA:79474 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
Primary Hyperoxaluria |
|
Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Recurrent fractures, Reduced bone mineral density, Craniosynostosis |
ORPHA:667 |
Williams Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteopenia, Osteoporosis, Synostosis of joints, ... |
ORPHA:904 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Sclerosis of skull base, Thickened cortex of long bones |
OMIM:269150 |