Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy |
ORPHA:3416 |
Melorheostosis With Osteopoikilosis |
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Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... |
ORPHA:2790 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac... |
ORPHA:3152 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ... |
ORPHA:970 |
Osteogenesis Imperfecta, Type Viii |
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Osteopenia, Type 1 collagen overmodification, Decreased calvarial ossification, Decreased skull o... |
OMIM:610915 |
Osteochondrosis Of The Metatarsal Bone |
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Thickened cortex of bones, Sclerosis of foot bone |
ORPHA:564003 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Caffey Disease |
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Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Caffey Disease |
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Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
Familial Expansile Osteolysis |
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Osteolysis, Thin bony cortex |
OMIM:174810 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Cranio-Osteoarthropathy |
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Abnormal cortical bone morphology, Eczema |
ORPHA:1525 |
Metatropic Dysplasia |
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Coarse metaphyseal trabecularization, Abnormal cortical bone morphology, Camptodactyly of finger,... |
ORPHA:2635 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Proteus Syndrome |
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Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Pyle Disease |
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Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... |
ORPHA:79106 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Abnormal cortical bone morphology |
ORPHA:166277 |
Ck Syndrome |
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Abnormal cortical bone morphology |
OMIM:300831 |
Lethal Congenital Contracture Syndrome Type 1 |
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Skeletal muscle atrophy, Abnormal cortical bone morphology |
ORPHA:1486 |
Gorham-Stout Disease |
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Osteopenia, Torticollis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis in... |
ORPHA:73 |
Grant Syndrome |
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Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Osteogenesis Imperfecta, Type Xxii |
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Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Thin bony cortex |
OMIM:619638 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:600081 |
Weismann-Netter Syndrome |
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Abnormal cortical bone morphology |
ORPHA:3344 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... |
OMIM:300554 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ... |
OMIM:241530 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Pachydermoperiostosis |
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Acne, Seborrheic dermatitis, Osteoporosis, Osteolysis, Abnormal cortical bone morphology, Eczemat... |
ORPHA:2796 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:264700 |
Dent Disease 1 |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:277440 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Melnick-Needles Syndrome |
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Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... |
ORPHA:2484 |
Osteogenesis Imperfecta, Type Xviii |
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Thin bony cortex, Generalized osteoporosis |
OMIM:617952 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
ORPHA:289157 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Abnormal cortical bone morphology |
OMIM:614886 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Rothmund-Thomson Syndrome |
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Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Skin rash, Reduced bone mineral dens... |
ORPHA:2909 |
Stüve-Wiedemann Syndrome |
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Osteopenia, Flexion contracture of finger, Camptodactyly of finger, Flexion contracture, Osteopor... |
ORPHA:3206 |
Dent Disease |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
ORPHA:1652 |
Oculodentodigital Dysplasia |
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Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger |
ORPHA:2710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Decreased muscle mass, Osteoporosis, Thin bony cortex |
OMIM:309583 |
Gm1-Gangliosidosis, Type Ii |
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Thin bony cortex |
OMIM:230600 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Lenz-Majewski Hyperostotic Dwarfism |
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Increased bone mineral density, Facial palsy, Cranial hyperostosis, Osteopetrosis, Facial hyperos... |
ORPHA:2658 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Decreased calvarial ossification, Thin bony cortex |
OMIM:613848 |
Familial Osteodysplasia, Anderson Type |
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Abnormal cortical bone morphology |
ORPHA:2769 |
Frank-Ter Haar Syndrome |
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Osteopenia, Acne, Osteoporosis, Camptodactyly, Cortical irregularity |
OMIM:249420 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Calcinosis |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Calcinosis |
ORPHA:221016 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex |
OMIM:277600 |
Faciocardiomelic Syndrome |
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Osteopenia, Thin bony cortex |
OMIM:612731 |
Spondyloocular Syndrome |
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Osteopenia, Thin bony cortex |
OMIM:605822 |
Weill-Marchesani Syndrome 2 |
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Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex |
OMIM:608328 |
Osteogenesis Imperfecta |
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Osteopenia, Flexion contracture, Osteoporosis, Decreased skull ossification, Abnormal cortical bo... |
ORPHA:666 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Rickets, Thin bony cortex, Reduced bone mineral density |
OMIM:613658 |
Craniotubular Dysplasia, Ikegawa Type |
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Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
Aspartylglucosaminuria |
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Macroglossia, Abnormal cortical bone morphology |
ORPHA:93 |