Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:266900 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus |
OMIM:167755 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:606996 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Nephronophthisis-Like Nephropathy 2 |
|
Periglomerular fibrosis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal insufficienc... |
OMIM:619468 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:606966 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polyuria, Polydipsia |
OMIM:304900 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:604387 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:256100 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... |
ORPHA:93101 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... |
ORPHA:99886 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:618858 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... |
OMIM:616860 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polydipsia, Renal insufficiency, Polyphagia |
OMIM:615986 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria, Polydipsia |
OMIM:613677 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... |
OMIM:262190 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Dystonia, Increased mean corpuscular volume, Methylmalonic aciduria, Homocystinuria, Megaloblasti... |
OMIM:277410 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... |
OMIM:248250 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... |
ORPHA:231222 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria |
OMIM:618857 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria, Polydipsia |
OMIM:304800 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria |
OMIM:222730 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Glomerulopathy, Neutropenia, Increased mean corpuscular volume, Hemolytic-urem... |
ORPHA:2169 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Distal renal tubular acidosis, Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis... |
OMIM:611590 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Cryptorchidism |
OMIM:617796 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Cystinosis |
|
Renal tubular dysfunction, Polydipsia, Type I diabetes mellitus, Nephropathy, Aminoaciduria, Prot... |
ORPHA:213 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Helix Syndrome |
|
Polydipsia, Nephrolithiasis, Hypocalciuria, Polyuria, Renal insufficiency |
OMIM:617671 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria |
OMIM:615994 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Renal steatosis |
OMIM:261650 |
Central Diabetes Insipidus |
|
Nocturia, Polydipsia |
ORPHA:178029 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Hypocalciuria, Renal potassiu... |
OMIM:612780 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria |
OMIM:239350 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Abnormal urinary electrolyte ... |
ORPHA:199343 |
Hypercalcemia, Infantile, 1 |
|
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis |
OMIM:143880 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insuffic... |
ORPHA:223 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Diabetes mellitus, Renal salt wastin... |
OMIM:613845 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... |
ORPHA:811 |
Pearson Marrow-Pancreas Syndrome |
|
Renal Fanconi syndrome, Refractory sideroblastic anemia, Diabetes mellitus, Type I diabetes melli... |
OMIM:557000 |
Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diabetes mellitus, Decrea... |
ORPHA:231226 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Diabetes mellitus, Type I diabetes mellitus |
OMIM:560000 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Renal insufficiency, Polydipsia, Nephrocalcinosis |
ORPHA:320 |
Beta-Thalassemia Major |
|
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diab... |
ORPHA:231214 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate concentration, Fasting hyperin... |
ORPHA:35878 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Aminoaciduria, Polydipsia, Hypercalciuria, Polyuria |
OMIM:239200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... |
ORPHA:93111 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Hyperactivity, Ataxia, Hyperglycinuria |
OMIM:239500 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Abnormal... |
ORPHA:300298 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubul... |
ORPHA:2088 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Polydipsia, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosu... |
ORPHA:411634 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Polydipsia, Thickening of the tubular basement membrane, Abnormal renal insters... |
ORPHA:84081 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Polydipsia |
ORPHA:251274 |
Gitelman Syndrome |
|
Polydipsia, Salt craving, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, R... |
OMIM:263800 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Proximal tubulopathy, Decreased g... |
ORPHA:18 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Cirrhosis, Hepatic steatos... |
OMIM:606069 |
Diamond-Blackfan Anemia 7 |
|
Horseshoe kidney, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Vesicoureter... |
OMIM:612562 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Polydipsia, Nephrocalcinosis, Bicarbonate-wasting renal tubular... |
ORPHA:47159 |
Blackfan-Diamond Anemia |
|
Hypospadias, Thrombocytosis, Horseshoe kidney, Elevated red cell adenosine deaminase level, Neutr... |
ORPHA:124 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Polydipsia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabet... |
ORPHA:769 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... |
OMIM:602522 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Polydipsia, Abnormal tubulo... |
ORPHA:411629 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Maternal diabetes, Hyperinsulinemia, Hyperglycemia |
OMIM:604367 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... |
OMIM:607364 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Hypercalciuria |
OMIM:300971 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... |
OMIM:613090 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hypospadias |
OMIM:175700 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Polydipsia, Nephrolithiasis, Glycos... |
OMIM:219800 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithias... |
ORPHA:848 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Dystonia, Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic ... |
OMIM:618278 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... |
ORPHA:2298 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... |
ORPHA:567548 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased urinary cortisol level |
OMIM:615954 |
Donohue Syndrome |
|
Fasting hypoglycemia, Long penis, Hyperglycemia, Postprandial hyperglycemia, Hyperinsulinemia |
OMIM:246200 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Polydipsia |
ORPHA:369929 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia |
OMIM:220111 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... |
ORPHA:86839 |
16Q24.3 Microdeletion Syndrome |
|
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume |
ORPHA:261250 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Attention deficit hyperactivity disorder, Increased circ... |
OMIM:188570 |
Wolfram Syndrome |
|
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Diabe... |
ORPHA:3463 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Maternal diabetes, Type II diabetes m... |
ORPHA:358 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Hepatomegaly |
OMIM:615924 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Anemia, Diabetes mellitus |
OMIM:609069 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria |
OMIM:612926 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity |
ORPHA:85288 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... |
ORPHA:99880 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Polyphagia |
ORPHA:525731 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinuria, Lethargy |
OMIM:605899 |
Parathyroid Carcinoma |
|
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... |
ORPHA:143 |
Whipple Disease |
|
Polydipsia, Insulin resistance |
ORPHA:3452 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Lethargy |
OMIM:274270 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloridur... |
OMIM:241200 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Oral aversion, Ketonuria |
ORPHA:134 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Renal tubular dysfunction, Pancreatic hypoplasia, Hyperglycemia,... |
ORPHA:99885 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia |
OMIM:269880 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Cirrhosis, Hyperactivity, Ataxia, Hepatic steatosis, Gait ataxi... |
ORPHA:363400 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Morm Syndrome |
|
Hyperactivity, Micropenis, Abnormality of the kidney |
ORPHA:75858 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Aceruloplasminemia |
|
Dystonia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Torticollis, Refrac... |
ORPHA:48818 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... |
OMIM:615710 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:608612 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Dysuria, Abnormality of the urethra, Renal insufficiency |
ORPHA:537 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Erdheim-Chester Disease |
|
Hydronephrosis, Dysuria, Renal insufficiency, Polydipsia |
ORPHA:35687 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis, Thrombocytop... |
ORPHA:391673 |
Castleman Disease |
|
Ureteral obstruction, Hematuria, Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Ren... |
ORPHA:160 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Acute kidney inju... |
ORPHA:731 |
Panhypophysitis |
|
Hyposthenuria, Polydipsia |
ORPHA:95513 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... |
ORPHA:465508 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Renal insufficiency,... |
ORPHA:440713 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Congenital hypothyroidism, Hyperactivity, Diabetes mellitus, Cryptorchidism |
OMIM:614613 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism |
DECIPHER:39 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Cryptorchidism |
OMIM:617126 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Graves disease, Hyperhidrosis, Goiter |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:614294 |
Bartter Syndrome, Type 1, Antenatal |
|
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... |
OMIM:601678 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Gluco... |
OMIM:137920 |
Phenylketonuria |
|
Increased level of hippuric acid in urine, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:248370 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... |
OMIM:167800 |
Eisenmenger Syndrome |
|
Hepatomegaly, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency a... |
ORPHA:97214 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Enuresis, Polydipsia, Polyphagia |
ORPHA:293987 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia |
ORPHA:90065 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobuty... |
OMIM:271980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Cryptorchidism, Proximal renal tubular acidosis |
OMIM:615824 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Renal dysplasia, Polyuria |
OMIM:618183 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252900 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism |
ORPHA:98791 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Decreased urinary urate, Decreased proportion of CD3-positive T cells... |
ORPHA:760 |
Duplication Of Urethra |
|
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... |
ORPHA:237 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Micropenis, Cryptorchidism |
OMIM:618504 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid l... |
OMIM:260400 |
Genetic Recurrent Myoglobinuria |
|
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... |
ORPHA:99845 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Hyperthyroidism, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria |
ORPHA:159 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Decreased response to growth hormone stimulation test |
OMIM:615286 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Hypogonadism, Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Decreased test... |
OMIM:300354 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Lacticaciduria |
ORPHA:3008 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance, Hypogonadism, Hyperactivity, Attention deficit hyperactivity di... |
ORPHA:73272 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperglycemia |
OMIM:151660 |
Cholera |
|
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Hypoglycemia |
ORPHA:173 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Adrenal insufficiency, Urinary bladder sphincter dysfunction, Hyperactivity, Ab... |
ORPHA:43 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum... |
ORPHA:85327 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Leprechaunism |
|
Fasting hypoglycemia, Long penis, Insulin resistance, Nephrocalcinosis, Recurrent infantile hypog... |
ORPHA:508 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Macroorchidism, Broad-based gait |
ORPHA:3077 |
Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... |
ORPHA:99819 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Gait disturbance, Neonatal hypoglycemia, Hyperactivity, Cryptorchidism |
ORPHA:457485 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... |
OMIM:141750 |
Argininemia |
|
Hepatomegaly, Oroticaciduria, Portal fibrosis, Spastic gait, Micronodular cirrhosis, Diaminoacidu... |
OMIM:207800 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Precocious puberty, Broad-based gait |
ORPHA:457260 |
Fragile X Syndrome |
|
Hyperactivity, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... |
ORPHA:424 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dysphagia, Renal insufficiency, Oliguria |
ORPHA:220393 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Tubuloint... |
ORPHA:330015 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252930 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Leukocytosis, Hepatomegaly, Splenomegaly, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
Zttk Syndrome |
|
Horseshoe kidney, Polyuria, Unilateral renal agenesis |
OMIM:617140 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Scorpion Envenomation |
|
Hyperglycemia, Acute kidney injury, Glycosuria, Ketonuria |
ORPHA:466677 |
47,Xyy Syndrome |
|
Hypospadias, Macroorchidism, Increased serum testosterone level, Increased circulating gonadotrop... |
ORPHA:8 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hypogonadism, Hyperactivity, Unilateral renal agenesis, Cryptorchidism, Precocious puberty |
ORPHA:3306 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Hyperactivity, Urinary incontinence, Nocturia |
OMIM:609727 |
Mucopolysaccharidosis, Type Iiid |
|
Hyperactivity, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252940 |
Lassa Fever |
|
Dysphagia, Oliguria |
ORPHA:99824 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Macroorchidism |
OMIM:300143 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Decreased urinary potassium, Urinary retention |
ORPHA:79102 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Cryptorchidism, Hypoplasia of penis, Ataxia |
ORPHA:228402 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Pancreatitis, Hepatic steatosis, Hypera... |
ORPHA:247585 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Dystonia, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Falls, Thyroid ... |
ORPHA:209905 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Renal agenesis, Hydronephrosis, Hypochromic micr... |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hydronephrosis, Anemia, Abnormal hemoglobin, Recurrent urinary tract infections, Cryptorchidism, ... |
ORPHA:847 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular filtration rat... |
ORPHA:340 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Neoplasm of the thyroid gland, Pure red cell aplasia, ... |
ORPHA:99867 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Horseshoe kidney, Hypospadias, Vesicoureteral reflux |
ORPHA:444077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Precocious puberty, Broad-based gait |
OMIM:300958 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Hypothyroidism, Attention deficit hyperactivit... |
ORPHA:449291 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia, Premature ovarian insufficiency |
ORPHA:391307 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Acute kidney injury, Hemolytic-uremic syndrome |
OMIM:235400 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... |
ORPHA:79474 |
Microscopic Polyangiitis |
|
Glomerulopathy, Hematuria, Renal insufficiency, Oliguria |
ORPHA:727 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Ureteral duplication, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Xerostomia, Retroperitoneal fibrosi... |
ORPHA:449432 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Gait disturbance, Decreased serum insulin-like growth factor 1, Hyperactivity, Micro... |
ORPHA:363528 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithelial necrosis, ... |
ORPHA:31826 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormality of the intrahepatic bile duct, Decreased response to growth hormone stimulation test,... |
ORPHA:485405 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Pineal cyst, Ureteral duplication, Hyperactivity, Micropenis, Cryptorchidism |
OMIM:617516 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Exocrine pancreatic insufficiency, Cryptorch... |
OMIM:617052 |
Infection-Related Hemolytic Uremic Syndrome |
|
Decreased urine output, Anuria, Acute kidney injury, Oliguria, Diabetes mellitus, Nephrotic range... |
ORPHA:544482 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Congenital megaureter, Neonatal hypoglycemia, Splenomegaly, Nephropathy, Hypercalci... |
ORPHA:116 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Microphallus |
OMIM:300486 |
Legius Syndrome |
|
Dystonia, Ovarian neoplasm, Male urethral meatus stenosis, Nephrolithiasis, Hyperactivity, Acute ... |
ORPHA:137605 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Shuffling gait, Cholelithiasis, Hyperactivity, Micropenis, Cryptorchidism, Decreased testicular size |
OMIM:300534 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability to walk, Ata... |
ORPHA:139396 |
Distal Monosomy 12Q |
|
Hydronephrosis, Unilateral cryptorchidism, Annular pancreas, Maturity-onset diabetes of the young... |
ORPHA:96149 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis |
OMIM:619351 |
Lujo Hemorrhagic Fever |
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Dysphagia, Microscopic hematuria, Renal insufficiency, Oliguria |
ORPHA:319213 |
Acrodysostosis With Multiple Hormone Resistance |
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Elevated circulating parathyroid hormone level, Hypospadias, Congenital hypothyroidism, Hypogonad... |
ORPHA:280651 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, Hydronephrosis, Recurrent urinary tract infections, Hyperactivity, Premature o... |
OMIM:251260 |
Seckel Syndrome 1 |
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Pancytopenia, Hyperactivity, Cryptorchidism, Hypospadias |
OMIM:210600 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Gait disturbance, Dystonia, Acanthocytosis, Bradykinesia, Hyperactivity, Ataxia, Urinary incontin... |
OMIM:234200 |
Tuberous Sclerosis Complex |
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Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, St... |
ORPHA:805 |
X-Linked Intellectual Disability, Cabezas Type |
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Hypogonadism, Hyperactivity, Hyperhidrosis, Broad-based gait, Hypoplasia of penis, Decreased test... |
ORPHA:85293 |
Hyperlysinemia |
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Argininuria, Dysmetria, Cystinuria, Hyperactivity, Tip-toe gait, Hyperlysinuria, Decreased urine ... |
ORPHA:2203 |
Sepsis In Premature Infants |
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Oliguria, Reversible renal failure |
ORPHA:90051 |
Colchicine Poisoning |
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Oliguria, Renal insufficiency |
ORPHA:31824 |
Histidinemia |
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Hyperactivity, Histidinuria |
ORPHA:2157 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Ataxia, Hepatomegaly, Precocious puberty |
ORPHA:163681 |
Aneurysm Of Sinus Of Valsalva |
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Oliguria |
ORPHA:1054 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Joubert Syndrome 1 |
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Hepatic fibrosis, Renal cyst, Hyperactivity, Ataxia, Nephropathy |
OMIM:213300 |
Distal Trisomy 17Q |
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Renal duplication, Hyperactivity, Accessory spleen, Vesicoureteral reflux, Cryptorchidism |
ORPHA:3379 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Anuria, Acute kidney injury, Hemoglobinuria |
ORPHA:90038 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia |
ORPHA:289176 |
Mucopolysaccharidosis Type 3 |
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Gait disturbance, Hepatomegaly, Mucopolysacchariduria, Loss of ambulation, Splenomegaly, Hyperact... |
ORPHA:581 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hypospadias, Gait disturbance, Hydronephrosis, Pelvic kidney, Renal cyst, Hyperactivity, Anterior... |
ORPHA:464306 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
Cardiogenic Shock |
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Oliguria |
ORPHA:97292 |
Choreoacanthocytosis |
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Hepatomegaly, Lingual dystonia, Acanthocytosis, Loss of ambulation, Oromandibular dystonia, Falls... |
ORPHA:2388 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Aplasia of the sweat glands, Anemia, Hyperactivity, Hyperhidrosis, Chronic kidney disease, Anhidr... |
ORPHA:642 |
Early Infantile Epileptic Encephalopathy |
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Dystonia, Renal dysplasia, Hyperactivity, Micropenis, Episodic ataxia, Ureterocele, Precocious pu... |
ORPHA:1934 |
Exercise-Induced Malignant Hyperthermia |
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Acute kidney injury, Oliguria |
ORPHA:466650 |
Yellow Fever |
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Anuria, Acute kidney injury, Renal insufficiency |
ORPHA:99829 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |