Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:618830 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... |
ORPHA:567544 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... |
OMIM:617056 |
C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... |
OMIM:300539 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... |
OMIM:123550 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... |
OMIM:179800 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine |
ORPHA:54057 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Xanthinuria, Type Ii |
|
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... |
OMIM:603592 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... |
ORPHA:411536 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
ORPHA:293964 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... |
OMIM:162000 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Recurrent skin infections, Hypocystinemia |
OMIM:617744 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... |
ORPHA:93126 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... |
ORPHA:275555 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... |
ORPHA:3467 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... |
OMIM:274150 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... |
ORPHA:49041 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... |
ORPHA:411634 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:614376 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity |
OMIM:618406 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, R... |
OMIM:616733 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Obesity, Azoospermia, Oligozoospermia |
OMIM:615703 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... |
ORPHA:85450 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Primary amenorrhea |
OMIM:614962 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... |
OMIM:235400 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... |
ORPHA:449395 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci... |
ORPHA:36234 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... |
ORPHA:91547 |
Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... |
OMIM:137920 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Decreased fertility |
ORPHA:2233 |
46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... |
OMIM:154230 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash... |
ORPHA:542323 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation |
OMIM:615516 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Elevated circulating creatinine concentration |
ORPHA:90060 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... |
ORPHA:230 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity |
OMIM:615981 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... |
OMIM:301110 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... |
OMIM:608836 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ... |
OMIM:618885 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
Perrault Syndrome 4 |
|
Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insuffici... |
OMIM:615300 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... |
ORPHA:90038 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Pneumonia, Elevated circulating creatinine concentration, Skin rash, Proteinuria, Gl... |
ORPHA:247691 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Scleritis, Elevated circulating C-reactive protein concentration, Tubulointerstitial nephritis, A... |
ORPHA:91500 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Decreased fertility, Obesity, Eunuchoid habitus |
ORPHA:2234 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:610628 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... |
ORPHA:3337 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... |
ORPHA:261529 |
Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Nephrotic syndro... |
ORPHA:29073 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... |
ORPHA:340 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index |
OMIM:614450 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Histidinemia |
|
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia |
OMIM:235800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Abcd Syndrome |
|
Large for gestational age, Neonatal death |
OMIM:600501 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Small for gestational age |
OMIM:274300 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased body weight, Abdominal obesity |
OMIM:615954 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Decreased fertility, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Primary ame... |
ORPHA:2235 |
Wilson Disease |
|
Increased body weight, Abnormality of the menstrual cycle, Weight loss, Failure to thrive |
ORPHA:905 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Uveitis, Elevated circulating creatinine concentration, Renal insufficiency, Hyp... |
ORPHA:99826 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity, Streak ovary |
OMIM:194072 |
Yellow Fever |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... |
ORPHA:99829 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Aromatase Deficiency |
|
Female infertility, Tall stature, Obesity, Eunuchoid habitus, Hypergonadotropic hypogonadism, Pri... |
ORPHA:91 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Large for gestational age |
ORPHA:263455 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Abnormality of reproductive system physiology |
ORPHA:1501 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteomyelitis |
ORPHA:232 |
Insulinoma |
|
Increased body weight |
ORPHA:97279 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Failure to thrive, Dysmenorrhea, Increased body weight, Oligomenorrhea |
ORPHA:264580 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Abnormal libido, Irregular menstruation, Abdominal obesity |
ORPHA:189427 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Hypogonadism, Increased body weight, Abdominal obesity, Primary amenorrhea, In... |
ORPHA:398069 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight, Oligomenorrhea, Irregular menstruation, Dysmenorrhea |
ORPHA:79240 |
Sotos Syndrome |
|
Increased body weight, Tall stature, Overgrowth |
OMIM:117550 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe... |
OMIM:619534 |
Cushing Disease |
|
Increased body weight, Amenorrhea, Abdominal obesity, Oligomenorrhea, Truncal obesity, Abnormal l... |
ORPHA:96253 |
Insulin-Resistance Syndrome Type B |
|
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal libido, Increased body weight, Amenorrhea, Weight loss, Oligomenorrhea, Truncal obesity,... |
ORPHA:99889 |
Carney Complex |
|
Abnormal sperm motility, Tall stature, Increased body weight, Oligozoospermia, Abdominal obesity,... |
ORPHA:1359 |