Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Anemia |
OMIM:238700 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia, Hyperlipidemia |
ORPHA:329249 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia |
OMIM:616026 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Fanconi-Bickel Syndrome |
|
Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Diabetes mellitus, Postprandial hypergl... |
ORPHA:2088 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Polydipsia |
ORPHA:213 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly, Polydipsia |
OMIM:239200 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Glycine Encephalopathy |
|
Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia |
OMIM:605899 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... |
OMIM:619743 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Fanconi Renotubular Syndrome 2 |
|
Glycosuria, Hypophosphatemia |
OMIM:613388 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulatin... |
ORPHA:411634 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Reactive hypoglycemia, Hypermagnesemia |
ORPHA:469 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Infantile Nephropathic Cystinosis |
|
Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Polydipsia |
ORPHA:411629 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Pearson Syndrome |
|
Anemia, Hyperalaninemia, Glycosuria, Hypokalemia, Hypophosphatemia, Reticulocytosis, Pancytopenia... |
ORPHA:699 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypoglycemia, Hypophosphat... |
ORPHA:3337 |
Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Mildly elevated creatine kinase |
ORPHA:681 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Dent Disease 1 |
|
Glycosuria, Hypophosphatemia |
OMIM:300009 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Agitation, Elevated circulating creatine kinase c... |
ORPHA:94093 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia |
ORPHA:2089 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Glycosuria, Hypophosphatemia, Decreased plasma carnitine, Hypokalemi... |
OMIM:219800 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Dia... |
ORPHA:2298 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Neutro... |
ORPHA:391673 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Fructose Intolerance, Hereditary |
|
Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Hypoglycemia, Bicarbonaturia |
OMIM:229600 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Hyperuricemia, Agitation, Hypoglycemia, Hyperammonemia, Thrombocytosis, Leukocytos... |
ORPHA:134 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Mccune-Albright Syndrome |
|
Hypophosphatemia, Pancytopenia |
ORPHA:562 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Eosinophi... |
ORPHA:2070 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia |
ORPHA:99880 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia, Hyperactivity |
OMIM:618314 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia |
ORPHA:143 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Alcoholism, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
Dent Disease |
|
Glycosuria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polyphagia, Polydipsia |
OMIM:615986 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Hyponatremia, Hypokalemia, Hypophosphatemia, Attention deficit hyperactivity disorder, Hy... |
ORPHA:534 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess |
ORPHA:289176 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Splenomegaly, Anemia |
ORPHA:667 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Periapical tooth abscess, Hypercalcemia, Tooth abscess |
ORPHA:437 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... |
ORPHA:465508 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperuricemia, Hyperphosphatemia |
OMIM:239000 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Polyphagia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia, Tooth abscess |
ORPHA:89936 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Citrullinemia Type Ii |
|
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hy... |
ORPHA:247585 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Anemia, Hyperkalemia, Agitation, Leukocytosis, Elevated circulating creatinine... |
ORPHA:340 |
Donohue Syndrome |
|
Hyperglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:246200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperglycemia, Glucose int... |
OMIM:608612 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Polyphagia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Hypocalcemia, Diabetes mellitus, Hyperphosphatemia |
ORPHA:280651 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Impaired glucose tolerance, Diabetic ketoacidosis, Hypokalemia, Insuli... |
ORPHA:769 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
Short Syndrome |
|
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Hypercholesterolemia, H... |
OMIM:248370 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia |
OMIM:609069 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Anemia, Postprandial hyperglycemia |
ORPHA:440713 |
Scorpion Envenomation |
|
Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentration, Hyperglycemia, Increased ... |
ORPHA:466677 |
Leprechaunism |
|
Hyperinsulinemia, Hypokalemia, Insulin resistance, Increased circulating renin level, Recurrent i... |
ORPHA:508 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Polyphagia, Hyperlipidemia, Hyponatremia, Hyperglycemia, Polydipsia |
ORPHA:293987 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hyperglycemia, Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia |
OMIM:124000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Insulin-resistant dia... |
ORPHA:79474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia, Dysphagia |
OMIM:220111 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |