Hypoparathyroidism, Familial Isolated, 2 |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Blue Diaper Syndrome |
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Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia |
ORPHA:94086 |
Pseudohypoparathyroidism Type 2 |
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Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
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 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Pseudohypoparathyroidism, Type Ib |
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Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 1 |
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Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Autoimmune Hypoparathyroidism |
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Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
Genetic Recurrent Myoglobinuria |
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Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase |
ORPHA:99845 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
Pseudohypoparathyroidism Type 1B |
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Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94089 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Calciphylaxis |
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Hyperphosphatemia |
ORPHA:280062 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia, Ataxia |
OMIM:618970 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Hypercalcemia, Infantile, 2 |
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Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemia, Hypophosphatemic rickets, Glycosuria |
OMIM:618913 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia |
OMIM:146350 |
Neuroleptic Malignant Syndrome |
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Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Sanjad-Sakati Syndrome |
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Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Kenny-Caffey Syndrome, Type 2 |
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Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Malignant Hyperthermia Of Anesthesia |
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Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Autosomal Dominant Hypocalcemia |
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Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia, Glycosuria |
OMIM:308990 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
Pseudohypoparathyroidism Type 1C |
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Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
Dent Disease 2 |
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Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Cystinosis |
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Hypophosphatemia, Type I diabetes mellitus, Gait disturbance, Hypokalemia |
ORPHA:213 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride... |
ORPHA:2088 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria |
OMIM:618857 |
Pseudohypoparathyroidism Type 1A |
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Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures, Choreoat... |
ORPHA:79443 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Hyperphosphatemia |
OMIM:101800 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... |
OMIM:227810 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Hypophosphatemia, Glycosuria |
OMIM:134600 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
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Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia |
OMIM:605911 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Difficulty walking, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Exercise-Induced Malignant Hyperthermia |
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Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype... |
ORPHA:466650 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Difficulty walking, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemi... |
OMIM:241530 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Refractory Celiac Disease |
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Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Hypomagnesemia 3, Renal |
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Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:93160 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Waddling ... |
OMIM:307800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria |
OMIM:613388 |
Hemorrhagic Fever-Renal Syndrome |
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Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia |
ORPHA:340 |
Mody |
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Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:352540 |
Colchicine Poisoning |
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Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Vitamin D-Dependent Rickets, Type 2A |
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Difficulty walking, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypophosphatemia, Hypercalcemia, Waddling gait |
OMIM:156400 |
Hereditary Fructose Intolerance |
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Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia |
ORPHA:469 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... |
ORPHA:3337 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Fibrous Dysplasia Of Bone |
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Difficulty walking, Antalgic gait, Hypophosphatemia, Hypercalcemia, Diabetes mellitus |
ORPHA:249 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... |
ORPHA:79102 |
Dent Disease 1 |
|
Hypophosphatemia, Glycosuria |
OMIM:300009 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Glycosuria |
ORPHA:411629 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Fructose Intolerance, Hereditary |
|
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia |
OMIM:229600 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Ataxia,... |
ORPHA:699 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hypophosphatemic ricke... |
OMIM:219800 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Dent Disease |
|
Renal hypophosphatemia, Glycosuria, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |