Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Osteopetrosis, Autosomal Recessive 9 |
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Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
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 |
Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Aminoaciduria, Rickets |
OMIM:615605 |
Hypercholanemia, Familial 1 |
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Failure to thrive, Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Tyrosinemia Type 1 |
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Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
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 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... |
ORPHA:93160 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration |
OMIM:616733 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Renal Tubular Acidosis Iii |
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Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Arthritis, Elevated circulating creatinine concentration, Synovitis |
ORPHA:567544 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:617056 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Osteomalacia, Recurrent fractures, Rickets, Generalized aminoaciduria, Hypophosphatemia |
OMIM:613388 |
Preeclampsia |
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Small for gestational age, Elevated circulating creatinine concentration |
ORPHA:275555 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia |
OMIM:211600 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse ... |
OMIM:264700 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Sickle Cell Anemia |
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Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil... |
ORPHA:232 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... |
ORPHA:289157 |
C3 Glomerulopathy |
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Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Large for gestational age, Rickets, Aminoaciduria, Hypophosphatemia |
OMIM:616026 |
Fanconi Renotubular Syndrome 1 |
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Osteomalacia, Rickets, Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hypokalemia, Failure to thrive, Rickets |
OMIM:611590 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Fanconi-Bickel Syndrome |
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Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Generalized aminoacidur... |
OMIM:227810 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Nephronophthisis-Like Nephropathy 2 |
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Elevated circulating creatinine concentration |
OMIM:619468 |
Congenital Disorder Of Glycosylation, Type Ih |
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Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
Dent Disease 1 |
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Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Failure to thrive, Rickets, Hypocholesterolemia |
OMIM:607765 |
Coach Syndrome 2 |
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Elevated circulating creatinine concentration |
OMIM:619111 |
Cerebral Creatine Deficiency Syndrome 2 |
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Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Cystinosis |
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Rickets, Hypokalemia, Aminoaciduria, Hypophosphatemia, Failure to thrive |
ORPHA:213 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Infantile Systemic Hyalinosis |
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Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Multiple Myeloma |
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Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... |
ORPHA:29073 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentratio... |
ORPHA:79303 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine |
ORPHA:54057 |
Fanconi-Bickel Syndrome |
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Osteopenia, Hypertriglyceridemia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Failure t... |
ORPHA:2088 |
Dent Disease |
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Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... |
ORPHA:1652 |
Bacterial Toxic-Shock Syndrome |
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Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Inguinal hernia, Elevated circulating creatinine concentration |
OMIM:614376 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Nephronophthisis 2 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Relapsing Fever |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Diffuse Alveolar Hemorrhage |
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Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Hypouricemia, Renal, 1 |
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Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
X-Linked Hypophosphatemia |
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Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
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 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
46,Xy Sex Reversal 4 |
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Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Celiac Disease, Susceptibility To, 1 |
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Osteoporosis, Rickets, Weight loss, Hypocalcemia, Enamel hypoplasia, Failure to thrive |
OMIM:212750 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Osteomalacia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Increase... |
ORPHA:3337 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated mat... |
OMIM:309000 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Acute Interstitial Pneumonia |
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Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Mccune-Albright Syndrome |
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Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration |
OMIM:123550 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Congenital Disorder Of Glycosylation, Type Iit |
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Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Wilson Disease |
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Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... |
OMIM:277900 |
Infantile Nephropathic Cystinosis |
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Rickets, Abnormal blood ion concentration, Hypokalemia, Aminoaciduria, Hypophosphatemia, Failure ... |
ORPHA:411629 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility to fractures, Hypok... |
ORPHA:18 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:174000 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Oligomeganephronia |
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Small for gestational age, Elevated circulating creatinine concentration, Congenital diaphragmati... |
ORPHA:2260 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Rickets, Reduced bone miner... |
OMIM:613658 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Papillorenal Syndrome |
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Joint laxity, Elevated circulating creatinine concentration |
OMIM:120330 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Occipital Horn Syndrome |
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Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Osteoporosis,... |
ORPHA:198 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated circulating creatinine concentration |
ORPHA:247691 |
Cystinosis, Nephropathic |
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Hyponatremia, Failure to thrive in infancy, Rickets, Generalized aminoaciduria, Reduced blood ure... |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Inguinal hernia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness,... |
ORPHA:534 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Senior-Loken Syndrome 1 |
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Elevated circulating creatinine concentration |
OMIM:266900 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration |
ORPHA:730 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we... |
ORPHA:340 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Elevated circulating creatinine concentration |
OMIM:617478 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:137920 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, ... |
OMIM:619381 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Yellow Fever |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Generalized Arterial Calcification Of Infancy |
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Failure to thrive in infancy, Osteomalacia, Abnormal calcification of the carpal bones, Fused cer... |
ORPHA:51608 |