Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... |
OMIM:239100 |
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 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Optic atrophy, Craniosynostosis |
ORPHA:178377 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Buschke-Ollendorff Syndrome |
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Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Flynn-Aird Syndrome |
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Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density |
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 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt... |
ORPHA:3152 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteosclerotic Metaphyseal Dysplasia |
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Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... |
OMIM:122860 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Isolated Osteopoikilosis |
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Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Osteopetrosis, Autosomal Recessive 9 |
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Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture |
OMIM:620366 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Melorheostosis |
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Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Osteopetrosis, Autosomal Recessive 4 |
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Optic disc pallor, Increased bone mineral density, Recurrent fractures, Optic atrophy, Osteopetrosis |
OMIM:611490 |
Mueller-Weiss Syndrome |
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Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Osteosclerosis With Ichthyosis And Fractures |
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Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
Exudative Vitreoretinopathy 4 |
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Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha... |
OMIM:601813 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... |
OMIM:239000 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Dysosteosclerosis |
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Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Co... |
ORPHA:1782 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ... |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 8 |
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Optic atrophy, Osteopetrosis |
OMIM:615085 |
Albers-Schönberg Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Osteopetrosis, Autosomal Recessive 1 |
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Increased bone mineral density, Osteomyelitis, Craniosynostosis, Optic atrophy, Osteopetrosis, Pa... |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 2 |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Optic atrophy... |
OMIM:259710 |
Paget Disease Of Bone 3 |
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Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Spondyloepiphyseal Dysplasia Tarda |
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Retinal detachment, Increased bone mineral density, Osteoarthritis of the distal interphalangeal ... |
ORPHA:93284 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Schnitzler Syndrome |
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Arthritis, Increased bone mineral density |
ORPHA:37748 |
Chondrodysplasia, Blomstrand Type |
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Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Hyperoxaluria, Primary, Type I |
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Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Optic neuropathy,... |
OMIM:259900 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Diastrophic Dysplasia |
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Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Camurati-Engelmann Disease |
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Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Osteogenesis Imperfecta, Type Xiii |
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Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Kenny-Caffey Syndrome, Type 2 |
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Retinal calcification, Papilledema, Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
Osteopetrosis, Autosomal Recessive 3 |
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Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression |
OMIM:259730 |
Dysosteosclerosis |
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Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... |
OMIM:224300 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Beemer-Ertbruggen Syndrome |
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Increased bone mineral density |
ORPHA:1237 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Werner Syndrome |
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Abnormality of retinal pigmentation, Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... |
OMIM:618476 |
Majeed Syndrome |
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Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Tricho-Dento-Osseous Syndrome |
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Increased bone mineral density |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 5 |
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Optic disc pallor, Increased bone mineral density, Cranial hyperostosis, Optic atrophy, Decreased... |
OMIM:259720 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Gaucher Disease Type 1 |
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Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Poems Syndrome |
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Sclerosis of hand bone, Papilledema, Sclerosis of skull base, Sclerosis of foot bone |
ORPHA:2905 |
Pycnodysostosis |
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Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Autoimmune Hypoparathyroidism |
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Increased bone mineral density |
ORPHA:36913 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Macula... |
ORPHA:33364 |
Primary Hyperoxaluria |
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Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized osteosclerosis,... |
ORPHA:416 |
Gaucher Disease |
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Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Dysostosis, Stanescu Type |
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Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Pseudohypoparathyroidism Type 1B |
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Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis |
OMIM:612301 |
Desmosterolosis |
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Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Leukocyte Adhesion Deficiency, Type Iii |
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Osteopetrosis |
OMIM:612840 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Osteopetrosis |
OMIM:618541 |
Pycnodysostosis |
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Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Lenz-Majewski Hyperostotic Dwarfism |
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Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Otopalatodigital Syndrome Type 2 |
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Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
12Q14 Microdeletion Syndrome |
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Osteopoikilosis |
ORPHA:94063 |
Schwartz-Jampel Syndrome |
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Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Limi... |
ORPHA:79474 |
Sclerosteosis 1 |
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Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C... |
OMIM:269500 |
Raine Syndrome |
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Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
Erdheim-Chester Disease |
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Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Pseudohypoparathyroidism Type 1A |
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Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... |
ORPHA:79443 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Osteopetrosis |
ORPHA:3240 |
Gaucher Disease Type 3 |
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Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Pseudohypoparathyroidism Type 1C |
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Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis |
OMIM:241410 |
Desmosterolosis |
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Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Optic atrophy, Osteopetrosis |
ORPHA:2785 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Optic nerve c... |
ORPHA:667 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Williams Syndrome |
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Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Retinal arteriolar tor... |
ORPHA:904 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
Narcolepsy Type 1 |
|
|
ORPHA:2073 |