Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Acute Zonal Occult Outer Retinopathy |
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Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Re... |
ORPHA:284454 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Cherubism |
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Optic neuropathy, Marcus Gunn pupil, Macular scar |
OMIM:118400 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Hyperlysinemia, Type I |
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Hyperactivity, Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... |
ORPHA:231736 |
Hyperprolinemia, Type I |
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Hyperactivity, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 101 |
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Optic atrophy, Hyperactivity |
OMIM:300928 |
Hartnup Disorder |
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Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Tremor |
OMIM:617744 |
Glycine Encephalopathy 1 |
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Hyperactivity, Restlessness, Hyperglycinuria, Hyperglycinemia, Impulsivity |
OMIM:605899 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Optic atrophy, Hyperactivity, Coloboma |
OMIM:274270 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hypertriglyceridemia, Hyperactivity, Dystonia, Tremor |
OMIM:615924 |
Coach Syndrome 2 |
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Chorioretinal coloboma, Elevated circulating creatinine concentration, Coloboma |
OMIM:619111 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Morm Syndrome |
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Retinal dystrophy, Hyperactivity, Retinal atrophy |
ORPHA:75858 |
Histidinemia |
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Hyperhistidinemia, Hyperactivity, Histidinuria |
ORPHA:2157 |
Cerebral Creatine Deficiency Syndrome 2 |
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Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Cystinosis, Adult Nonnephropathic |
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Abnormal retinal morphology, Elevated circulating creatinine concentration |
OMIM:219750 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Tremor, Optic atrophy, Hyperactivity |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Nephronophthisis-Like Nephropathy 2 |
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Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Transient hyperphenylalaninemia, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Osteopetrosis, Autosomal Recessive 9 |
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Papilledema, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Optic disc coloboma, Remnants... |
OMIM:120200 |
C3 Glomerulopathy |
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Central serous chorioretinopathy, Yellow/white lesions of the retina, Drusen, Elevated circulatin... |
ORPHA:329918 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine |
ORPHA:54057 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:617056 |
Interstitial Nephritis, Karyomegalic |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Preeclampsia |
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Elevated circulating creatinine concentration |
ORPHA:275555 |
Renal Tubular Acidosis, Distal, 1 |
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Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration |
OMIM:179800 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration |
OMIM:616733 |
Senior-Loken Syndrome 1 |
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Retinal dystrophy, Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Hyperuricemia, Dystonia, Elevated circulating creatinine concentration |
ORPHA:79233 |
Papillorenal Syndrome |
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Morning glory anomaly, Macular degeneration, Retinal detachment, Macular hyperpigmentation, Chori... |
OMIM:120330 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Congenital Disorder Of Glycosylation, Type Iit |
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Decreased HDL cholesterol concentration, Hypotriglyceridemia, Decreased serum creatinine |
OMIM:618885 |
Citrullinemia Type Ii |
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Hypoproteinemia, Abnormal eating behavior, Hyperactivity, Restlessness, Acute hyperammonemia, Ele... |
ORPHA:247585 |
Hypouricemia, Renal, 1 |
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Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Attenuation of retinal blood vessels, Elevated circulating creatinine concentration |
OMIM:614376 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration |
OMIM:620138 |
Nephronophthisis 2 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Tremor, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... |
OMIM:613095 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration |
OMIM:123550 |
Oligomeganephronia |
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Optic disc coloboma, Polydipsia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Relapsing Fever |
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Increased total bilirubin, Elevated circulating C-reactive protein concentration, Elevated circul... |
ORPHA:91547 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Abnormal retinal vascular morphology, Retinal cotton wool spot, Elevated circulating creatinine c... |
ORPHA:247691 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... |
OMIM:608836 |
Persistent Hyperplastic Primary Vitreous |
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Tractional retinal detachment, Remnants of the hyaloid vascular system, Retinal fold, Glial remna... |
ORPHA:91495 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Sickle Cell Anemia |
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Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Polydipsia, Hypocalcemia, Aminoaciduri... |
ORPHA:411634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, R... |
OMIM:614643 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
Acute Interstitial Pneumonia |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration |
ORPHA:79126 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:235400 |
Diffuse Alveolar Hemorrhage |
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Elevated circulating creatinine concentration |
ORPHA:90060 |
46,Xy Sex Reversal 4 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Dysphagia, Intention tremor, Optic atrophy, Dystonia, Impulsivity |
OMIM:610217 |
Pierson Syndrome |
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Hypoproteinemia, Retinal vascular tortuosity, Hypopigmentation of the fundus, Retinal detachment,... |
OMIM:609049 |
Atelis Syndrome 2 |
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Remnants of the hyaloid vascular system, Vitreous hemorrhage, Attention deficit hyperactivity dis... |
OMIM:620185 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
ORPHA:85450 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Retinal fold, Retinal nonattachment, Iris coloboma |
OMIM:221900 |
Bacterial Toxic-Shock Syndrome |
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Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... |
ORPHA:36234 |
Dopamine Beta-Hydroxylase Deficiency |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Argininemia |
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Hyperargininemia, Hyperactivity, Hyperammonemia, Diaminoaciduria |
OMIM:207800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:174000 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Hand tremor, Agitation |
ORPHA:424 |
Full Nf2-Related Schwannomatosis |
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Abnormal optic nerve morphology, Epiretinal membrane, Dysphagia, Remnants of the hyaloid vascular... |
ORPHA:637 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:49041 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... |
ORPHA:90038 |
Multiple Myeloma |
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Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality... |
ORPHA:91500 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration |
ORPHA:730 |
Hemorrhagic Fever-Renal Syndrome |
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Agitation, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Elevated circulating creatinine concentration |
OMIM:617478 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Marburg Hemorrhagic Fever |
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Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... |
ORPHA:99826 |
Renal Cysts And Diabetes Syndrome |
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Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:137920 |
Norrie Disease |
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Abnormal retinal vascular morphology, Retinal detachment, Attention deficit hyperactivity disorde... |
ORPHA:649 |
Neuroocular Syndrome |
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Lens coloboma, Hypoplasia of the fovea, Iris coloboma, Attention deficit hyperactivity disorder, ... |
OMIM:619539 |
Pauci-Immune Glomerulonephritis |
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Elevated circulating creatinine concentration |
ORPHA:93126 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Cyclopia, Chorioretinal coloboma, Iris coloboma |
OMIM:157170 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Coloboma, Increased circulati... |
OMIM:619534 |
Microphthalmia, Syndromic 2 |
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Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma |
OMIM:300166 |
Igg4-Related Kidney Disease |
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Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... |
ORPHA:449395 |
Yellow Fever |
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Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... |
ORPHA:99829 |
Meier-Gorlin Syndrome 3 |
|
|
OMIM:613803 |
Ear-Patella-Short Stature Syndrome |
|
|
ORPHA:2554 |