Melorheostosis With Osteopoikilosis |
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Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Osteochondrosis Of The Metatarsal Bone |
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Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Eiken Syndrome |
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Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Sclerosteosis |
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Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Familial Expansile Osteolysis |
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Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Caffey Disease |
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Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Abnormal cortical bone morphology, Increased bone mineral density, Abnormal limb bone morphology |
ORPHA:2204 |
Caffey Disease |
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Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... |
ORPHA:1310 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Pyle Disease |
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Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... |
OMIM:265900 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Cranio-Osteoarthropathy |
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Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Metatropic Dysplasia |
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Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Halberd-shaped pelvis... |
ORPHA:2635 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Osteosclerotic Metaphyseal Dysplasia |
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Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Lethal Congenital Contracture Syndrome Type 1 |
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Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Grant Syndrome |
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Bowing of the long bones, Joint hyperflexibility, Abnormal pelvic girdle bone morphology, Abnorma... |
ORPHA:2097 |
Osteopetrosis, Autosomal Dominant 1 |
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Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Proteus Syndrome |
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Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial hyperostosis, T... |
OMIM:176920 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Gorham-Stout Disease |
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Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Osteopetrosis, Autosomal Recessive 6 |
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Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Dentin Dysplasia With Sclerotic Bones |
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Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Ck Syndrome |
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Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:241530 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony cortex |
OMIM:619638 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
Melnick-Needles Syndrome |
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Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Co... |
ORPHA:2484 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Vitamin D-Dependent Rickets, Type 2A |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Dent Disease 1 |
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Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Stüve-Wiedemann Syndrome |
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Osteopenia, Bowing of the long bones, Camptodactyly of finger, Recurrent fractures, Metaphyseal w... |
ORPHA:3206 |
Pachydermoperiostosis |
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Osteomyelitis, Limitation of joint mobility, Osteoporosis, Small hand, Clubbing of toes, Osteolys... |
ORPHA:2796 |
Fibrous Dysplasia Of Bone |
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Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... |
ORPHA:249 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Inguinal hernia, Generalized joi... |
OMIM:613848 |
Lenz-Majewski Hyperostotic Dwarfism |
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Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dent... |
ORPHA:2658 |
Dent Disease |
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Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
Familial Osteodysplasia, Anderson Type |
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Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... |
ORPHA:2769 |
Ghosal Hematodiaphyseal Dysplasia |
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Diaphyseal dysplasia, Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
Oculodentodigital Dysplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Osteopetrosis, Autosomal Recessive 9 |
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Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
Rothmund-Thomson Syndrome |
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Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Abnormal dental enamel m... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Abnormal dental enamel morphol... |
ORPHA:221008 |
Faciocardiomelic Syndrome |
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Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Frank-Ter Haar Syndrome |
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Short palm, Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Fl... |
OMIM:249420 |
Osteogenesis Imperfecta |
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Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho... |
ORPHA:666 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Gm1-Gangliosidosis, Type Ii |
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Joint stiffness, Thin bony cortex, Coxa valga |
OMIM:230600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Long ha... |
OMIM:309583 |
Weill-Marchesani Syndrome 1 |
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Joint stiffness, Broad metatarsal, Broad phalanges of the hand, Broad metacarpals, Thin bony cort... |
OMIM:277600 |
Weill-Marchesani Syndrome 2 |
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Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... |
OMIM:608328 |
Spondyloocular Syndrome |
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Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Thin bony co... |
OMIM:605822 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... |
OMIM:619727 |
Mulibrey Nanism |
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Enamel hypoplasia, Thickened cortex of long bones |
OMIM:253250 |
Stuve-Wiedemann Syndrome 1 |
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Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Cl... |
OMIM:601559 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... |
ORPHA:488434 |
Aspartylglucosaminuria |
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Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Arthritis, Umbilical hernia, Abnor... |
ORPHA:93 |
Kenny-Caffey Syndrome, Type 2 |
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Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... |
OMIM:127000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Inguinal hernia, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Thickened cortex ... |
ORPHA:97685 |