Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Pseudohypoparathyroidism, Type Ib |
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Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia |
OMIM:146350 |
Hypercalcemia, Infantile, 2 |
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Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Immunodeficiency 76 |
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Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Hypomagnesemia 1, Intestinal |
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Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Pseudohypoparathyroidism Type 2 |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Blue Diaper Syndrome |
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Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Dent Disease 2 |
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Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Familial Isolated Hyperparathyroidism |
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Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Pseudopseudohypoparathyroidism |
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Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Autoimmune Hypoparathyroidism |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia |
OMIM:308990 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Linear Verrucous Nevus Syndrome |
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Hypophosphatemia |
ORPHA:2611 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Calciphylaxis |
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Hyperphosphatemia |
ORPHA:280062 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Uremic Pruritus |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Colchicine Poisoning |
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Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Genetic Recurrent Myoglobinuria |
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Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Cystinosis |
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Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Hyperparathyroidism, Neonatal Severe |
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Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Pseudohypoparathyroidism Type 1B |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Fanconi Renotubular Syndrome 2 |
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Hypophosphatemia |
OMIM:613388 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Neuroleptic Malignant Syndrome |
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Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Oncogenic Osteomalacia |
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Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Sanjad-Sakati Syndrome |
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Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Malignant Hyperthermia Of Anesthesia |
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Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Hereditary Fructose Intolerance |
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Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Familial Hypocalciuric Hypercalcemia |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Alport Syndrome 3A, Autosomal Dominant |
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Azotemia, Hypophosphatemia |
OMIM:104200 |
Infantile Nephropathic Cystinosis |
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Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Cystinosis, Nephropathic |
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Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Pearson Syndrome |
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Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |