| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... |
ORPHA:210110 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran... |
OMIM:259700 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... |
ORPHA:1782 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis,... |
ORPHA:94089 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... |
ORPHA:53 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... |
OMIM:259710 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification |
ORPHA:163649 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Laryngeal dystonia |
ORPHA:36913 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures |
OMIM:239000 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... |
OMIM:131300 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... |
ORPHA:763 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density |
ORPHA:902 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Tremor |
ORPHA:94063 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count |
OMIM:259720 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Intent... |
ORPHA:33364 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Exaggerated startle response |
OMIM:609541 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... |
ORPHA:89936 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... |
ORPHA:90652 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone |
ORPHA:2905 |
| Schwartz-Jampel Syndrome |
|
Blepharospasm, Shoulder flexion contracture, Joint stiffness, Hip contracture, Wrist flexion cont... |
ORPHA:800 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Laryngeal dystonia, Increased bone mineral density, Reduced bone mineral de... |
ORPHA:79443 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
| Raine Syndrome |
|
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation |
OMIM:259775 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Gaucher Disease |
|
Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Tremor, Osteoarthrit... |
ORPHA:355 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Elbow flexion contracture, Hip contracture, Joint hypermobility, Exaggerated startle response, Fl... |
OMIM:617301 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Osteomyelitis |
ORPHA:35687 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification, Laryngeal dystonia |
ORPHA:79444 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response |
OMIM:616881 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis |
ORPHA:77261 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Tremor, Exaggerated startle response |
OMIM:620327 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Joint contracture, Exaggerated startle response |
OMIM:617864 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... |
ORPHA:79474 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Recurrent fractures |
ORPHA:667 |
| Tay-Sachs Disease |
|
Laryngeal dystonia, Limited elbow extension, Tremor, Limited knee extension, Exaggerated startle ... |
ORPHA:845 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Dystonia, Contractures of the large joints, Exaggerated ... |
ORPHA:521426 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Joint stiffness, Tremor, Joint hypermobility, Radioulnar synost... |
ORPHA:904 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Exaggerated startle response |
OMIM:253800 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Exaggerated startle response |
OMIM:617527 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Opisthotonus, Sclerosis of skull base, Increased density of long bones, Thickened cortex of long ... |
OMIM:269150 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint hypermobility, Exaggerated startle response, Osteoporosis, Dystonia |
ORPHA:438213 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Joint hypermobility, Exaggerated startle response |
OMIM:619522 |
