Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia |
OMIM:146350 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... |
ORPHA:36913 |
Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... |
ORPHA:94089 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... |
OMIM:617994 |
Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia |
OMIM:211900 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia |
OMIM:103580 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Hypophosphatemia |
OMIM:612287 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... |
OMIM:127000 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Increased bone min... |
OMIM:239000 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Osteopenia, Hypophosphatemia |
OMIM:612286 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Coarse metaphyseal trabecularization, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bon... |
ORPHA:93160 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Reduced bone mineral density |
ORPHA:428 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Familial Isolated Hyperparathyroidism |
|
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density, Sparse scalp hair |
ORPHA:2611 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... |
ORPHA:79444 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:600081 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Calvarial osteosclerosis, C... |
ORPHA:93325 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Epiphyseal stippling, Hyperphosphatemia, Calvarial hyperostosis |
OMIM:101800 |
Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... |
ORPHA:79443 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r... |
ORPHA:157215 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... |
OMIM:241530 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia |
OMIM:134600 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Hypophosphatemia, Rickets, Osteomalacia |
OMIM:613388 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Alopecia universalis, Rickets, Sparse bone trabeculae, Hypophosp... |
OMIM:277440 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:264700 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia |
ORPHA:398063 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... |
OMIM:248250 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300009 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium c... |
OMIM:307800 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypocalcemia, Sparse bone trabeculae, Hyp... |
ORPHA:289157 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia, Rickets |
ORPHA:213 |
Colchicine Poisoning |
|
Alopecia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blo... |
ORPHA:31824 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia, Rickets |
OMIM:616026 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia |
OMIM:600740 |
Fibrous Dysplasia Of Bone |
|
Rickets, Osteomalacia, Cortical irregularity, Fibrous dysplasia of the bones, Hypophosphatemia, T... |
ORPHA:249 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Increased serum bile acid concentration,... |
OMIM:227810 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia |
ORPHA:340 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia |
ORPHA:352540 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypophosphatemia, Rickets, Hypertriglyceridemia |
ORPHA:2088 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones,... |
ORPHA:562 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Dent Disease |
|
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe... |
ORPHA:1652 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets |
ORPHA:411629 |
Raine Syndrome |
|
Increased bone mineral density, Hypophosphatemia, Highly arched eyebrow, Subperiosteal bone forma... |
OMIM:259775 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... |
ORPHA:3337 |
X-Linked Hypophosphatemia |
|
Rickets, Generalized osteosclerosis, Hypophosphatemia, Craniosynostosis, Reduced bone mineral den... |
ORPHA:89936 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Abnormality of hair texture, Craniosynostosis, Red... |
ORPHA:667 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Hypophosphatemic rickets,... |
OMIM:219800 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Oculocerebrorenal Syndrome Of Lowe |
|
Fine hair, Osteomalacia, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoa... |
ORPHA:534 |
Parathyroid Carcinoma |
|
Osteoporosis, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Pearson Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |