Developmental Dysplasia Of The Hip 1 |
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Congenital hip dislocation, Acetabular dysplasia |
OMIM:142700 |
Upington Disease |
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Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia of the hip, Flat capital femoral ... |
ORPHA:3408 |
Upington Disease |
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Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
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Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
Coxopodopatellar Syndrome |
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Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Aplasia/Hypopl... |
ORPHA:1509 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Finger syndactyly |
ORPHA:1891 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
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Coxa valga, Hip dysplasia, Acetabular dysplasia, Genu valgum |
OMIM:613618 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
Beukes Hip Dysplasia |
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Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... |
OMIM:142669 |
Distal Arthrogryposis Type 1 |
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Adducted thumb, Rocker bottom foot, Ulnar deviation of finger, Overlapping fingers, Camptodactyly... |
ORPHA:1146 |
Auriculoosteodysplasia |
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Hip dysplasia, Dislocated radial head |
OMIM:109000 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
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Coxa valga, Short greater sciatic notch |
OMIM:271620 |
Epiphyseal Dysplasia, Multiple, 5 |
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Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy... |
OMIM:607078 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... |
ORPHA:1802 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ... |
OMIM:250460 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
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Hip dislocation, Hip dysplasia, Hammertoe |
ORPHA:370943 |
Hypochondroplasia |
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Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Short long bone, Bra... |
OMIM:146000 |
Osteopetrosis, Autosomal Recessive 6 |
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Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the ... |
OMIM:611497 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormality of pelvic girdle bone mo... |
ORPHA:2370 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Multiple Metaphyseal Dysplasia |
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Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
Epiphyseal Dysplasia, Baumann Type |
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Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... |
OMIM:610797 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Abnormal pelvis bone morphology |
ORPHA:2206 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Bowing of the long bones, Arachnodactyly, Sandal gap, Abnormality of pelvic girdle bone morpholog... |
ORPHA:2725 |
Weismann-Netter Syndrome |
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Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metatarsal diaphyseal endosteal sclerosis, Abnormality of pelvic girdle bone morphology, Thickene... |
OMIM:144750 |
Coxoauricular Syndrome |
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Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology |
ORPHA:1508 |
Hypochondroplasia |
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Genu varum, Abnormality of femur morphology, Bowing of the long bones, Abnormality of the metaphy... |
ORPHA:429 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormality of pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Hip dislocation, Short me... |
ORPHA:968 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of fingers, Hypoplasia of the radius, Finger syndactyly, Femoral bowing, Hypop... |
OMIM:228930 |
Léri-Weill Dyschondrosteosis |
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Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology, Brachydactyly, Camptodac... |
ORPHA:2928 |
Jeune Syndrome |
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Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... |
ORPHA:474 |
Thoracomelic Dysplasia |
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Diaphyseal thickening, Abnormality of the metaphysis, Genu valgum, Abnormality of fibula morpholo... |
ORPHA:1803 |
Atelosteogenesis, Type Ii |
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Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, San... |
OMIM:256050 |
Osteopetrosis, Autosomal Dominant 1 |
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Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Pycnodysostosis |
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Abnormality of pelvic girdle bone morphology, Osteolytic defects of the distal phalanges of the h... |
OMIM:265800 |
Verloove Vanhorick-Brubakk Syndrome |
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Tarsal synostosis, Abnormality of femur morphology, Finger syndactyly, Abnormality of pelvic gird... |
ORPHA:3429 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Metaphyseal widening, Abnormality of pelvic girdle bone morphology, Club-shaped distal femur, Erl... |
OMIM:123000 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... |
OMIM:307800 |
Femoral-Facial Syndrome |
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Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormality of pelvic girdle bone mor... |
ORPHA:1988 |
Osteogenesis Imperfecta, Type V |
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Abnormality of pelvic girdle bone morphology, Anterior radial head dislocation, Hyperextensibilit... |
OMIM:610967 |
Grant Syndrome |
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Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Bowing of the lon... |
ORPHA:2097 |
Isolated Epispadias |
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Abnormality of pelvic girdle bone morphology |
ORPHA:93928 |
Moebius Syndrome |
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Lower limb undergrowth, Aplasia/Hypoplasia involving the metacarpal bones, Split hand, Radial dev... |
OMIM:157900 |
Osteopetrosis, Autosomal Dominant 2 |
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Fractures of the long bones, Abnormality of pelvic girdle bone morphology |
OMIM:166600 |
Acrofacial Dysostosis, RodrÃguez Type |
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Hand oligodactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Finger syndactyly, Aplas... |
ORPHA:1788 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Abnormality of pelvic girdle bone morphology, Stippled calcification proximal humeral epiphyses, ... |
OMIM:222765 |
Codas Syndrome |
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Abnormality of epiphysis morphology, Congenital hip dislocation, Short metacarpal, Abnormality of... |
ORPHA:1458 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o... |
ORPHA:1422 |
Paget Disease Of Bone 2, Early-Onset |
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Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morphology |
OMIM:602080 |
Osteogenesis Imperfecta, Type Ii |
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Crumpled long bones, Abnormality of pelvic girdle bone morphology, Tibial bowing, Broad long bones |
OMIM:166210 |
Cleidocranial Dysplasia |
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Short clavicles, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysis morphology, Hypop... |
ORPHA:1452 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... |
ORPHA:1112 |
Harrod Syndrome |
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Abnormality of pelvic girdle bone morphology, Arachnodactyly, Abnormal shoulder morphology |
ORPHA:2115 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Metaphyseal widening, Short palm, Femoral bowing, Abnormality of pelvic gi... |
OMIM:250250 |
Sclerosteosis 1 |
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Deviation of finger, Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Cortica... |
OMIM:269500 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... |
OMIM:302960 |
Bladder Exstrophy And Epispadias Complex |
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Abnormality of pelvic girdle bone morphology |
OMIM:600057 |
Meier-Gorlin Syndrome 1 |
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Cutaneous finger syndactyly, Absent glenoid fossa, Genu varum, Aplasia/Hypoplasia of the patella,... |
OMIM:224690 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,... |
ORPHA:175 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormality of pelvic girdle bone morphology, Carpal bone hypoplasia |
OMIM:601162 |
Caudal Regression Sequence |
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Abnormal iliac wing morphology, Abnormality of pelvic girdle bone morphology |
ORPHA:3027 |
Camurati-Engelmann Disease |
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Cortical thickening of long bone diaphyses, Abnormal diaphysis morphology, Abnormality of the uln... |
ORPHA:1328 |
Spondylocarpotarsal Synostosis Syndrome |
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Tarsal synostosis, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, Carpal synostosis, Sh... |
OMIM:272460 |
Saethre-Chotzen Syndrome |
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Absent first metatarsal, Toe syndactyly, Hallux valgus, Partial duplication of the distal phalanx... |
OMIM:101400 |