Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
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Type I diabetes mellitus |
OMIM:612520 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Osteosclerotic Metaphyseal Dysplasia |
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Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Osteomesopyknosis |
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Increased bone mineral density |
OMIM:166450 |
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 |
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 |
Buschke-Ollendorff Syndrome |
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Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
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Increased bone mineral density |
ORPHA:75325 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
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Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteopetrosis, Autosomal Recessive 6 |
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Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Osteomesopyknosis |
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Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Mueller-Weiss Syndrome |
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Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
Ribbing Disease |
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Diaphyseal sclerosis |
OMIM:601477 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Van Buchem Disease |
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Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Isolated Osteopoikilosis |
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Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Eiken Syndrome |
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Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Trichodentoosseous Syndrome |
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Increased bone mineral density |
OMIM:190320 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Osteopetrosis, Autosomal Dominant 1 |
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Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Melorheostosis |
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Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Lethal Recessive Chondrodysplasia |
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Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Flynn-Aird Syndrome |
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Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
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Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Bone marrow hypocellularity,... |
OMIM:231095 |
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 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... |
OMIM:215045 |
Paget Disease Of Bone 3 |
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Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Intermediate Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Diastrophic Dysplasia |
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Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Albers-Schönberg Osteopetrosis |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Osteopetrosis, Autosomal Recessive 9 |
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Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Coxa valga, Wide anterior fontanel, Flat acetabular roof, Flatten... |
ORPHA:163649 |
Dysosteosclerosis |
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Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... |
ORPHA:1782 |
Schnitzler Syndrome |
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Arthritis, Increased bone mineral density, Increased circulating IgM level |
ORPHA:37748 |
Osteogenesis Imperfecta, Type Xiii |
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Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Osteopetrosis, Autosomal Recessive 4 |
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Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Spondyloepiphyseal Dysplasia Tarda |
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Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Osteopetrosis, Autosomal Recessive 1 |
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Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Osteogenesis Imperfecta, Type Xiv |
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Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Tricho-Dento-Osseous Syndrome |
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Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Ophthalmomandibulomelic Dysplasia |
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Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Aplasia Cutis Congenita |
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Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Short Stature, Dauber-Argente Type |
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Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Osteopetrosis, Autosomal Recessive 2 |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... |
OMIM:123000 |
X-Linked Hypophosphatemia |
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Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Coxoauricular Syndrome |
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Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... |
ORPHA:2780 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Beemer-Ertbruggen Syndrome |
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Increased bone mineral density |
ORPHA:1237 |
Dysosteosclerosis |
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Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... |
OMIM:224300 |
Osteopetrosis, Autosomal Recessive 8 |
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Osteopetrosis |
OMIM:615085 |
Weismann-Netter Syndrome |
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Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
Majeed Syndrome |
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Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Florid Cemento-Osseous Dysplasia |
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Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Dysostosis, Stanescu Type |
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Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Camurati-Engelmann Disease |
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Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ... |
OMIM:265800 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Bruck Syndrome 2 |
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Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Dent Disease 1 |
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Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Bilateral talipe... |
OMIM:609465 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Decreased circulating total IgM, Osteopetros... |
OMIM:612301 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Generalized osteosclerosis, Small hand,... |
ORPHA:763 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto... |
ORPHA:90652 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant... |
ORPHA:77259 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... |
OMIM:127000 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... |
ORPHA:324964 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler... |
ORPHA:2905 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Short... |
ORPHA:79444 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Decreased osteoclast cou... |
OMIM:259720 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Delayed ossification of ... |
OMIM:602471 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S... |
ORPHA:79443 |
Werner Syndrome |
|
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis |
ORPHA:902 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... |
OMIM:119600 |
Desmosterolosis |
|
Metatarsus adductus, Increased bone mineral density, Osteopetrosis, Micromelia |
ORPHA:35107 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis |
ORPHA:94063 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,... |
OMIM:269300 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis, Short palm |
OMIM:241410 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Raine Syndrome |
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Increased bone mineral density, Bowing of the long bones, Micromelia, Subperiosteal bone formatio... |
OMIM:259775 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
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Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Osteopetrosis |
ORPHA:3240 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Osteopenia, Short humerus, Rhizomelia, Flexion contracture, Epiphyseal stippling, Abnormal pelvic... |
OMIM:222765 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Contractures of the large jo... |
OMIM:616716 |
Schwartz-Jampel Syndrome |
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Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Bowing of the lon... |
ORPHA:800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Osteogenesis Imperfecta, Type Iv |
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Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Osteogenesis Imperfecta, Type I |
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Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Desmosterolosis |
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Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogryposis multiplex c... |
OMIM:602398 |
Sanjad-Sakati Syndrome |
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Short foot, Small hand, Patchy osteosclerosis |
ORPHA:2323 |
Gaucher Disease Type 3 |
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Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce... |
ORPHA:77261 |
Dent Disease |
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Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
Hyperoxaluria, Primary, Type I |
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Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... |
OMIM:618162 |
Sclerosteosis 1 |
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Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... |
ORPHA:221008 |
Rothmund-Thomson Syndrome |
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Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Clubbi... |
ORPHA:33364 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Pyknoachondrogenesis |
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Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Gaucher Disease |
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Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Holt-Oram Syndrome |
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Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Multiple Synostoses Syndrome 1 |
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Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Omodysplasia 1 |
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Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited hip movement... |
OMIM:258315 |
Sapho Syndrome |
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Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Atelosteogenesis Type Iii |
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Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Atelosteogenesis, Type I |
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Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
Melnick-Needles Syndrome |
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Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... |
OMIM:309350 |
Occipital Horn Syndrome |
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Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Osteoporo... |
OMIM:304150 |
Williams Syndrome |
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Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Down-sloping shoulders, ... |
ORPHA:904 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Knee flex... |
OMIM:210710 |
Osteopetrosis With Renal Tubular Acidosis |
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Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Spondylocarpotarsal Synostosis Syndrome |
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Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... |
OMIM:272460 |
Ulnar-Mammary Syndrome |
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Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |