| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia |
OMIM:222100 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Burning Mouth Syndrome |
|
Dysesthesia, Impaired temperature sensation, Abnormal fifth cranial nerve morphology, Abnormality... |
ORPHA:353253 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... |
OMIM:616963 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu... |
OMIM:143880 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Somatic sensory dysfunction, Abnormality of the s... |
ORPHA:90117 |
| Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, Oliguria, Rena... |
ORPHA:97362 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Abnormality of the kidney, Epistaxis, Myocardial infarction, Impaired AD... |
OMIM:155100 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Lim... |
ORPHA:95434 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Re... |
ORPHA:324575 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased bo... |
ORPHA:263455 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, N... |
OMIM:613404 |
| Mody |
|
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... |
ORPHA:552 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyph... |
ORPHA:276580 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Central Diabetes Insipidus |
|
Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, G... |
ORPHA:2088 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestatio... |
OMIM:616026 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Insulin resistance, Renal tubular dysfunction, Enuresis, Glyc... |
ORPHA:69076 |
| Cataract 47 |
|
Glycosuria |
OMIM:612018 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Sy... |
ORPHA:276575 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive, Megacystis, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Megacystis, Polyuria |
OMIM:304800 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
| Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Increased circulating antibody level, Enlarged kidney, Failure to thr... |
OMIM:615285 |
| Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Hyperesthesia |
ORPHA:137596 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... |
OMIM:615382 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... |
ORPHA:411634 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary a... |
OMIM:613845 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Hypertension, Polyuria |
OMIM:613677 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... |
ORPHA:223 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Hypoten... |
ORPHA:369873 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
| Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased circulating IgG l... |
ORPHA:2298 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal... |
ORPHA:320 |
| Leptin Deficiency Or Dysfunction |
|
Micropenis, Polyphagia, Obesity |
OMIM:614962 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Bradykinesia, Gai... |
ORPHA:399 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Polydipsi... |
OMIM:239200 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, P... |
OMIM:231680 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Distal sensory impairment, Paresthesia, Ab... |
OMIM:263570 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... |
OMIM:241200 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypocalciuria, Renal sodium w... |
OMIM:612780 |
| Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal... |
OMIM:619902 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... |
OMIM:602088 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Nephrolithiasis, Cystinuria, Failure to thrive, Polyphagia, Neonatal hypogl... |
OMIM:606407 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Skin-... |
OMIM:615547 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia |
OMIM:614963 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... |
ORPHA:199343 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... |
OMIM:231200 |
| Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Hypertension, Macroscopic hematur... |
ORPHA:251004 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... |
OMIM:243910 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven... |
ORPHA:251274 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... |
ORPHA:182050 |
| Temple Syndrome |
|
Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia |
ORPHA:254516 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Dysphagia, Glycosuria |
ORPHA:589 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Peripheral axonal neuropathy, Abnormal a... |
OMIM:611890 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hyperte... |
ORPHA:525731 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Decreased platelet glyco... |
OMIM:603585 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr... |
ORPHA:447 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... |
OMIM:229600 |
| Wilson Disease |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hypercalciuria, Dysp... |
OMIM:277900 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Polyphagia, Self-injurious behavior, Abnormal repetitive mann... |
ORPHA:228402 |
| Seckel Syndrome 10 |
|
Diabetes mellitus, Impaired glucose tolerance, Congestive heart failure, Insulin resistance, Gluc... |
OMIM:617253 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis |
OMIM:605735 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Glucose intolerance, Glycosuria, Hypertrophic cardiomyopathy, Failure ... |
OMIM:616539 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:617885 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Scorpion Envenomation |
|
Restlessness, Bundle branch block, Ketonuria, Tachycardia, Cardiac conduction abnormality, Conges... |
ORPHA:466677 |
| Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Diabetes mellitus, Proteinuria, Small for gestational age, Car... |
ORPHA:699 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
| Wagro Syndrome |
|
Proteinuria, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Nephrob... |
OMIM:612469 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephr... |
OMIM:276700 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Ataxia-Pancytopenia Syndrome |
|
Splenomegaly, Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Hypertension, Palpitations, Polydipsia |
ORPHA:231580 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... |
OMIM:601678 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... |
OMIM:193400 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury, Thr... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury, Thr... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury, Thr... |
OMIM:612926 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury, Thr... |
OMIM:612924 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Aggressive behavior, Large for gestational age, Self-injurious behavior, Agitation |
OMIM:616116 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Optic atrophy, Obesity |
OMIM:614651 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki... |
ORPHA:90301 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hemat... |
ORPHA:274 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Senso... |
ORPHA:52430 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Obesity |
OMIM:616188 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Cachexia, Myocardial infarction, Anorexi... |
ORPHA:3452 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-induced p... |
OMIM:153670 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased T cell activation, Poly... |
ORPHA:66628 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased T cell activation, Poly... |
ORPHA:179494 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Congestive heart failure, Splenomegaly, Nephrotic sy... |
OMIM:617303 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal c... |
ORPHA:143 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Joint hemorrhage, Hematuria,... |
ORPHA:324636 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Diabetes mellitus, Decreased ... |
OMIM:604928 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Hypoglycemia, L... |
OMIM:608836 |
| Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia |
ORPHA:397941 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia, Obesity, Maternal diabetes |
ORPHA:3157 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Peripheral axonal neuropathy, Ataxia, Impaired pain sensation, Obesity, Distal sensory impairment |
OMIM:618124 |
| Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve |
ORPHA:449563 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyp... |
OMIM:232200 |
| Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal c... |
ORPHA:99880 |
| Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... |
ORPHA:72 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... |
ORPHA:188 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyt... |
ORPHA:505248 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsuli... |
ORPHA:769 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
| Luscan-Lumish Syndrome |
|
Polyphagia, Overgrowth, Obesity, Aggressive behavior |
OMIM:616831 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Congestive heart failure, Weight loss, Polydipsia, Hydronephrosis |
ORPHA:35687 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Increas... |
ORPHA:449395 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Reflex asystolic syncope, ... |
ORPHA:79329 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Card... |
ORPHA:3463 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Portal hype... |
ORPHA:731 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Abnormal upper motor neuro... |
ORPHA:275872 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia |
OMIM:215470 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cystic renal... |
OMIM:615415 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling gait... |
OMIM:300055 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Agitation, Increased body weight |
ORPHA:276608 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Compulsive behaviors,... |
ORPHA:398069 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Overgrowth, Optic nerve hypoplasia, Tall stature, Large for gestational age |
ORPHA:137634 |
| Atypical Werner Syndrome |
|
Renal neoplasm, Failure to thrive, Diabetes mellitus, Telangiectasia of the skin, Congestive hear... |
ORPHA:79474 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Splenomegaly, Nephrolithiasis, Focal segmental glomerulo... |
OMIM:232220 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity |
ORPHA:589905 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Dysphagia, P... |
ORPHA:220393 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, ... |
ORPHA:79128 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity, Hypoglycemic seizures |
OMIM:609734 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Impaired glucose tolerance, Polyuria, Small for gestational age, Insulin... |
OMIM:606721 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss |
ORPHA:514 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
| Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Polyuria, Renal dysplasia, Decreased circulating antibody level |
OMIM:618183 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity |
ORPHA:238624 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination |
OMIM:221770 |
| Lassa Fever |
|
Shock, Increased circulating IgM level, Oliguria, Dysphagia |
ORPHA:99824 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Type II diabetes mellitus, Abnormal temper tantrums, Skin-picking, Mi... |
ORPHA:398079 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Diabetes mellitus, Pulmonic stenosis, Glycosuria, Hyperglycemia, Failure to... |
OMIM:600001 |
| Abcd Syndrome |
|
Large for gestational age, Aganglionic megacolon, Abnormal auditory evoked potentials, Total inte... |
OMIM:600501 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
| Panhypophysitis |
|
Polydipsia, Hyposthenuria, Orthostatic hypotension |
ORPHA:95513 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Hepatomegaly, Reduced natural killer cel... |
OMIM:608233 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:208540 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:608594 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Obesity |
OMIM:612291 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Fasting h... |
ORPHA:159 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious... |
ORPHA:98793 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:98855 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... |
ORPHA:209905 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Subconjunctival hemorrhage, Mul... |
ORPHA:464329 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious... |
ORPHA:177901 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria,... |
ORPHA:508 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Epistaxis, Nephrolithiasis, Stage 5 chronic kidney disea... |
ORPHA:79259 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Polyphagia, Tall stature |
OMIM:300942 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:98754 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph... |
OMIM:615873 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Obesity, Hypertension, Abnormal platelet function, Low urinary cyclic AMP ... |
ORPHA:79443 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:269700 |
| Sitosterolemia 1 |
|
Splenomegaly, Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
| Zttk Syndrome |
|
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive |
OMIM:617140 |
| Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi... |
OMIM:176270 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden c... |
ORPHA:906 |
| Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Hematuria, Addictive alcohol use, ... |
ORPHA:520 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:261 |
| H Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Abnormal cardiovascular system physiology, Hepatosp... |
ORPHA:168569 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, De... |
ORPHA:98853 |
| Leprosy |
|
Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Abnormality of the seventh... |
ORPHA:548 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Oliguria, Bradycardia, Revers... |
ORPHA:90051 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Dorsocervical fat pad, Increased body weight |
OMIM:615830 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation |
ORPHA:251028 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal... |
OMIM:130650 |
| Adnp Syndrome |
|
Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, Compulsive beha... |
ORPHA:404448 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... |
OMIM:252500 |
| Cholera |
|
Tachycardia, Abnormality of renal excretion, Hypoglycemia, Hypovolemic shock, Hypotension, Acute ... |
ORPHA:173 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Left ventric... |
ORPHA:57777 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gai... |
ORPHA:98794 |
| Weaver Syndrome |
|
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Degeneration of anterior ho... |
ORPHA:276244 |
| Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Myocarditis, Oliguria, Subconjunctival hemorrhage, Bradycardia, Hypot... |
ORPHA:319213 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hypertension, Acute kidney injury, Thrombocytopenia |
OMIM:235400 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Aggressive behavior, Obesity, Self-injurious behavior, Enuresis, Compulsive behaviors... |
ORPHA:293987 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hypoglycemia, Neonatal hypoglycemia, Large for gestational ag... |
ORPHA:116 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Abnormal upper mot... |
OMIM:205100 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity |
OMIM:616562 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
| Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Hypertension, Abdominal obesity, Attention deficit hyperactivity disorder, Fai... |
ORPHA:739 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Polyphagia, Obesity, Low urinary cyclic AMP response to PTH administration |
ORPHA:79444 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Optic atrophy, Motor axonal neuropathy, Ataxia |
OMIM:614298 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail... |
ORPHA:905 |
| X-Linked Acrogigantism |
|
Increased body mass index, Fasting hyperinsulinemia, Abnormal oral glucose tolerance, Polyphagia |
ORPHA:300373 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Premature atrial contractions, Maternal diabetes, Cardiomegaly, Ventri... |
OMIM:300855 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Craniopharyngioma |
|
Myocardial infarction, Obesity, Cerebral ischemia, Type II diabetes mellitus, Polyphagia |
ORPHA:54595 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity |
ORPHA:86816 |
| Colchicine Poisoning |
|
Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, Hypotension, C... |
ORPHA:31824 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
| Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperpla... |
ORPHA:99829 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Ureteral hypoplasia, Abnormal r... |
ORPHA:79328 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Overweight, Atrophy of the spinal ... |
ORPHA:2822 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Telangiectasia of the skin, Enlarged kidney |
ORPHA:276280 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Abnormal upper motor neuron morphology, Gait ataxia |
OMIM:601162 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Anuria, Diabetes mellitus, Myocarditis, Oliguria, Hypertension, Acute kidney... |
ORPHA:544482 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Dilated cardiomyopathy, Polyphagia, ... |
ORPHA:1606 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia, Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarg... |
OMIM:618280 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Pulmonic stenosis, Mitral stenosis,... |
OMIM:306955 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... |
ORPHA:500095 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Isolated Osteopoikilosis |
|
Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
| Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Impaired neutrophil chemotaxis, Hemolytic... |
ORPHA:2968 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury, Thrombocytopenia |
ORPHA:90038 |
| Porphyria Cutanea Tarda |
|
Diabetes mellitus, Stage 5 chronic kidney disease, Porphyrinuria, Increased urinary porphobilinog... |
ORPHA:101330 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
| Chédiak-Higashi Syndrome |
|
Epistaxis, Splenomegaly, Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Abnormal p... |
ORPHA:167 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Inabilit... |
ORPHA:404454 |
| Acute Lung Injury |
|
Shock, Addictive alcohol use, Diffuse alveolar hemorrhage |
ORPHA:178320 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Addictive alcohol use, Hypotension |
ORPHA:36238 |
| Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Fa... |
ORPHA:79139 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:189427 |
| Noonan Syndrome |
|
Hepatomegaly, Arrhythmia, Abnormal platelet function |
ORPHA:648 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Hypospadias, Aggressive behavior, Ectopic kidney, Dilated cardiomyo... |
OMIM:607872 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
| Sotos Syndrome |
|
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... |
OMIM:117550 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Oliguria, ST segment depression, Hypotension, Abnormal ... |
ORPHA:466650 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Cardiomyopathy,... |
OMIM:312870 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Micropenis, Hepatomegaly, Portal hyp... |
ORPHA:64 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Cushing Disease |
|
Truncal obesity, Abdominal obesity, Dorsocervical fat pad, Increased body weight |
ORPHA:96253 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Dorsocervical fat pad, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal o... |
ORPHA:99889 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
| Carney Complex |
|
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature |
ORPHA:1359 |
