Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Difficulty walking, Hypocalcemia |
ORPHA:99845 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperuricemia, Hyperphosphatemia |
OMIM:239000 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathetosis, Hypocalcemic seizures, Hypoc... |
ORPHA:79443 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Refractory Celiac Disease |
|
Hypophosphatemia, Abnormal spleen physiology, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypo... |
ORPHA:398063 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hyperkalemia, Ataxia, Elevated circulating creatine kinase concentration, Hypo... |
ORPHA:466650 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia, Difficulty walking |
OMIM:600081 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Difficult... |
OMIM:241530 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia, Gait disturbance |
ORPHA:213 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Difficulty walking, Hypocalcemic seizures |
OMIM:264700 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures |
OMIM:277440 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia, Waddling gait |
OMIM:156400 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Ataxia, Increased circulating guanosine concentratio... |
OMIM:613179 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Fanconi-Bickel Syndrome |
|
Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Hereditary Fructose Intolerance |
|
Lethargy, Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Difficulty walking, Hypocalcemic seizures |
ORPHA:289157 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... |
OMIM:619743 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... |
OMIM:602450 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia |
OMIM:616026 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Ataxia, Hypoplastic spleen, Bone marrow hypocellu... |
ORPHA:699 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypophosphatemia, Hypercalcemia, Difficulty walking |
ORPHA:249 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
Fructose Intolerance, Hereditary |
|
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Lethargy, Bicarbonaturia |
OMIM:229600 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Mccune-Albright Syndrome |
|
Hypophosphatemia, Bone marrow hypocellularity |
ORPHA:562 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration |
ORPHA:411629 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... |
ORPHA:3337 |
Autosomal Recessive Malignant Osteopetrosis |
|
Lymphadenopathy, Hypophosphatemia, Hypocalcemia, Splenomegaly |
ORPHA:667 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |