Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Hypophosphatemic Bone Disease |
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Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Hypercholanemia, Familial 1 |
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Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
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 |
Renal Tubular Acidosis Iii |
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Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypo... |
ORPHA:93160 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs |
ORPHA:882 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia, Rickets |
OMIM:602722 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia |
OMIM:613388 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Osteopenia, Cholelithiasis, Rickets, Conjugated hyperbilirubinemia |
OMIM:211600 |
Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Hypophosphatemia, Hypophosp... |
OMIM:612089 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Elevated circ... |
ORPHA:562 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:264700 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Cortical irregularity, Precocious puberty in females, Osteomalacia, Hypercalcem... |
ORPHA:249 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... |
OMIM:307800 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hypokalemia, Rickets |
OMIM:611590 |
Dent Disease 1 |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Infantile Systemic Hyalinosis |
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Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Rickets, Hypocholesterolemia |
OMIM:607765 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Dent Disease |
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Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Rickets |
OMIM:560000 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia |
OMIM:600740 |
Cystinosis |
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Hypokalemia, Rickets, Hypophosphatemia |
ORPHA:213 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... |
OMIM:227810 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
Fanconi-Bickel Syndrome |
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Osteopenia, Hypertriglyceridemia, Rickets, Hypophosphatemia |
ORPHA:2088 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, External genital hypoplasia, Flexion contracture, Osteoporosis, Rickets... |
ORPHA:2671 |
Lowe Oculocerebrorenal Syndrome |
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Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f... |
OMIM:309000 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
Celiac Disease, Susceptibility To, 1 |
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Infertility, Osteoporosis, Hypocalcemia, Rickets |
OMIM:212750 |
Wilson Disease |
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Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia... |
OMIM:277900 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Small scrotum, Rickets, Reduced bone mineral density, Hypoalbuminemia, ... |
OMIM:613658 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Infantile Nephropathic Cystinosis |
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Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hyperparathyroidism, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffn... |
ORPHA:534 |
Cystinosis, Nephropathic |
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Hyponatremia, Male infertility, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalem... |
OMIM:219800 |
Occipital Horn Syndrome |
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Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Cryptorchidism, Osteoporosis, Rickets |
ORPHA:2636 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy... |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical vertebrae, Hypophosphate... |
ORPHA:51608 |