Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
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 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Familial Expansile Osteolysis |
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Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Osteochondrosis Of The Metatarsal Bone |
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Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Dentin Dysplasia With Sclerotic Bones |
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Cortical sclerosis |
OMIM:125440 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Caffey Disease |
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Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
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 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Caffey Disease |
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Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Cranio-Osteoarthropathy |
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Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Osteogenesis Imperfecta, Type Xxii |
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Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Pyle Disease |
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Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs |
ORPHA:882 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Metatropic Dysplasia |
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Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Bile Acid Conjugation Defect 1 |
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Rickets |
OMIM:619232 |
Renal Tubular Acidosis Iii |
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Rickets, Osteomalacia |
OMIM:267200 |
Autosomal Recessive Primary Microcephaly |
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Abnormal cortical bone morphology |
ORPHA:2512 |
Gorham-Stout Disease |
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Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
Lethal Congenital Contracture Syndrome Type 1 |
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Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
Proteus Syndrome |
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Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Ck Syndrome |
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Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Grant Syndrome |
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Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Recurrent fractures, Rickets, Osteomalacia |
OMIM:613388 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Autosomal Dominant Hypophosphatemic Rickets |
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Rickets, Osteomalacia |
ORPHA:89937 |
Dent Disease 1 |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Weismann-Netter Syndrome |
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Abnormal cortical bone morphology |
ORPHA:3344 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... |
ORPHA:2484 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... |
ORPHA:2796 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... |
OMIM:613848 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Joint stiffness |
OMIM:230600 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Oculodentodigital Dysplasia |
|
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger |
ORPHA:2710 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets |
OMIM:212750 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... |
ORPHA:666 |
Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:605822 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness |
OMIM:608328 |
Wilson Disease |
|
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility |
OMIM:277900 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... |
OMIM:309000 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Joint hyperflexibility, Arthritis |
ORPHA:534 |
Aspartylglucosaminuria |
|
Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Rickets |
OMIM:219800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Osteomalacia |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... |
ORPHA:51608 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
|
OMIM:616126 |