Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Hyperprolinemia, Type I |
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Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... |
OMIM:239500 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
Renal Failure, Progressive, With Hypertension |
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Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Cerebral Creatine Deficiency Syndrome 2 |
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Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac... |
OMIM:612736 |
Hartnup Disorder |
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Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria |
OMIM:234500 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Lesch-Nyhan Phenotype With Normal Hgprt |
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Choreoathetosis, Self-mutilation, Hyperuricemia |
OMIM:308950 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hyperlysinemia, Type I |
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Hyperactivity, Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Congestiv... |
ORPHA:3077 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia |
OMIM:617744 |
Nephronophthisis-Like Nephropathy 2 |
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Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Preeclampsia |
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Hypertension, Elevated systolic blood pressure, Elevated circulating creatinine concentration, El... |
ORPHA:275555 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Drug-Induced Lupus Erythematosus |
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Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Transient ischemic attack, Myocardial infarction, Tremor, Elevated circulating creatinine concent... |
OMIM:274150 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy... |
OMIM:613845 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Hyperactivity, Ataxia, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior, ... |
OMIM:271980 |
Cardiogenic Shock |
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Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Coach Syndrome 2 |
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Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Juvenile Huntington Disease |
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Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Dystonia |
ORPHA:248111 |
Aapoaiv Amyloidosis |
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Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Orthostatic Hypotension 1 |
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Hypomagnesemia, Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen |
OMIM:223360 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Phenylketonuria |
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Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine, Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:235400 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Hypertension, Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
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Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Cln5 Disease |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
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Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Cockayne Syndrome Type 1 |
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Ataxia, Tremor, Hypertension, Gait disturbance, Difficulty walking, Increased blood urea nitrogen |
ORPHA:90321 |
Nephronophthisis 2 |
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Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia |
OMIM:602088 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
C3 Glomerulopathy |
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Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Cryoglobulinemia, Familial Mixed |
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Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Uremic Pruritus |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Histidinemia |
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Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... |
ORPHA:49041 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Relapsing Fever |
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Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... |
OMIM:620141 |
Osteopetrosis, Autosomal Recessive 9 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Hypouricemia, Renal, 1 |
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Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... |
ORPHA:52503 |
Congenital Disorder Of Glycosylation, Type Ih |
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Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... |
ORPHA:247691 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Elevated circulating creatinine concentration |
ORPHA:90060 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Hypokalem... |
ORPHA:411634 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension |
OMIM:174000 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Spastic gait |
OMIM:207800 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... |
ORPHA:36234 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Hyperlysinemia |
|
Hyperactivity, Tremor, Argininuria, Hyperammonemia, Cystinuria, Opisthotonus, Dysmetria, Hyperlys... |
ORPHA:2203 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... |
ORPHA:340 |
Oligomeganephronia |
|
Hypertension, Polydipsia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Decreased serum iron, Pulmonary embolism, Dysphagia, Hypertension, Budd-Ch... |
ORPHA:447 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylas... |
ORPHA:99826 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Inte... |
OMIM:610217 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Papillorenal Syndrome |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:120330 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:730 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Systolic heart murmur |
OMIM:617478 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Dysphagia, Blepharospasm, Choreoathetosis, ... |
OMIM:234200 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... |
ORPHA:2388 |
Yellow Fever |
|
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... |
ORPHA:99829 |
Pauci-Immune Glomerulonephritis |
|
Small vessel vasculitis, Elevated circulating creatinine concentration, Arteritis, Pulmonary hemo... |
ORPHA:93126 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Goodpasture Syndrome |
|
Pulmonary hemorrhage, Increased blood urea nitrogen |
OMIM:233450 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... |
ORPHA:91500 |
Igg4-Related Kidney Disease |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |