Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
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Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Coxopodopatellar Syndrome |
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Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Ghosal Hematodiaphyseal Dysplasia |
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Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
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Hypouricemia |
OMIM:307830 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Uremic Pruritus |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Hypochondroplasia |
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Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:429 |
Léri-Weill Dyschondrosteosis |
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Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... |
ORPHA:240 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Atelosteogenesis, Type Ii |
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Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir... |
OMIM:256050 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Jeune Syndrome |
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Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab... |
ORPHA:474 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Coxoauricular Syndrome |
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Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology |
ORPHA:1508 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... |
ORPHA:2928 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Endosteal Hyperostosis, Autosomal Dominant |
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Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... |
OMIM:144750 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Thoracomelic Dysplasia |
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Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy... |
ORPHA:1803 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Cockayne Syndrome Type 1 |
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Increased blood urea nitrogen |
ORPHA:90321 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist... |
OMIM:123000 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
Osteopetrosis, Autosomal Dominant 1 |
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Abnormal pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Acrofacial Dysostosis, RodrÃguez Type |
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Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
Isolated Epispadias |
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Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Paroxysmal Nocturnal Hemoglobinuria |
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Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... |
ORPHA:1112 |
Goodpasture Syndrome |
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Increased blood urea nitrogen |
OMIM:233450 |