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Gene: Ren1 MGI:97898

Gene Summary

Name:

renin 1 structural

Synonyms:

Rnr, Ren-A, Ren1c, Ren-1, Rn-1, Ren, Ren1d

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Ren1^{Ren-1c Enhancer KO}
head, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
forearm, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
body, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
head, WT, Female, WTSI

Ren1^{Ren-1c Enhancer KO}
forearm, WT, Female, WTSI

View all 139 images

Ren1^{Ren-1c Enhancer KO}
back skin, HOM, Female, WTSI

Human diseases caused by Ren1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ren1 (2 diseases)
Human diseases predicted to be associated with Ren1 (1572 diseases)

The table below shows human diseases associated to Ren1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4		Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Renal Tubular Dysgenesis		Renotubular dysgenesis, Anuria, Abnormality of the urinary system, Hypotension	OMIM:267430

The table below shows human diseases predicted to be associated to Ren1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Renal Failure, Progressive, With Hypertension	Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine conc...	OMIM:161900
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp...	OMIM:103900
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoalbuminemia, St...	OMIM:615573
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Pleural effusion, Focal segmental glomerulosclerosis, Ascites, Hype...	OMIM:603278
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level, Hypertension, Decreased circulating aldosterone l...	OMIM:177200
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Edema, Hypoa...	OMIM:600995
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618126
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Abnormality of circulating cortisol...	ORPHA:320
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati...	OMIM:300539
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Dehydration, Failure to th...	OMIM:143880
Nephrotic Syndrome, Type 24	Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo...	OMIM:619263
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Focal Segmental Glomerulosclerosis 2	Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney...	OMIM:603965
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu...	ORPHA:567544
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Hyperaldosteronism, Familial, Type Iii	Polyuria, Metabolic acidosis, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hyp...	OMIM:613677
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Focal Segmental Glomerulosclerosis 5	Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr...	OMIM:613237
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Hyp...	OMIM:618913
Nephrotic Syndrome, Type 26	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s...	OMIM:620049
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul...	OMIM:619468
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Trimethylaminuria	Tachycardia, Trimethylaminuria, Hypertension	OMIM:602079
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor...	ORPHA:2843
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Edema, Hypoalbuminemia, Diff...	OMIM:610725
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus	OMIM:182690
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Corticosterone Methyloxidase Type Ii Deficiency	Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone l...	OMIM:610600
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid...	OMIM:256300
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Polycystic Kidney Disease 7	Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ...	OMIM:620056
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Iga Nephropathy, Susceptibility To, 2	Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni...	OMIM:613944
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra...	OMIM:602522
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Metabolic acidosis, Hypokalemia, Hypercalciuria, Dehydration, Failure to thrive, Nephrocalcinosis...	OMIM:602722
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hyperechogenic kidneys, Reduced renal...	OMIM:617610
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti...	OMIM:607364
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, Proteinuria, ...	OMIM:614455
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Pulmonary arterial hypertension, Increased circulati...	OMIM:613845
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo...	OMIM:614492
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting, Hyperkalemia, Dehydration, Hypotension, Increased circulating renin level, Hy...	OMIM:203400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Focal Segmental Glomerulosclerosis 9	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:616220
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Gluc...	ORPHA:231625
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Dehyd...	OMIM:264350
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Metabolic acidosis, Hypokalemia, Reduced left ventricular ejection fraction, Hypocalcem...	OMIM:620152
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascite...	OMIM:232500
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Failure to thrive, Renal insufficiency, Dehydration	ORPHA:28
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M...	OMIM:137950
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating cort...	ORPHA:556030
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Ochoa Syndrome	Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Hyper...	ORPHA:2704
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Methylmalonic aciduria, Dehydration, Ketoacidosis	OMIM:614265
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem...	ORPHA:99886
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial...	OMIM:615474
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Metabolic acidosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperech...	OMIM:611555
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic aciduria, Methylmalonic acidemia, Dehydration, Failure to thrive, Acidosis, Dicarbox...	ORPHA:289504
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:218030
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Metabolic acidosis, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating crea...	OMIM:614723
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Gastrointestinal he...	ORPHA:85450
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Tac...	OMIM:145600
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensit...	ORPHA:231580
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Alpha-Methylacetoacetic Aciduria	Dehydration, Episodic ketoacidosis, Elevated urinary 2-methyl-3-hydroxybutyric acid level	OMIM:203750
Alport Syndrome	Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial fibrosis, Hypertension,...	ORPHA:63
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Oligomeganephronia	Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ...	ORPHA:2260
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Dehydration, Pulmonic steno...	ORPHA:79159
Type 1 Diabetes Mellitus	Polyuria, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis	OMIM:222100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Nephronophthisis 18	Nephronophthisis, Hypertension, Thickened glomerular basement membrane, Renal tubular atrophy, St...	OMIM:615862
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ...	ORPHA:656
Mitochondrial Complex I Deficiency, Nuclear Type 35	Lactic acidosis, Elevated urinary 4-hydroxybutyric acid, Metabolic acidosis, Elevated lactate:pyr...	OMIM:619003
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulat...	OMIM:616733
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Nephronophthisis, Hypertension, Chronic kidney disease	ORPHA:3156
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration,...	OMIM:251120
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k...	OMIM:606966
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Increased circulating androstenedione concentration, Increased circulating AC...	ORPHA:90795
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism	OMIM:620125
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hypertension, Neph...	ORPHA:329918
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Iga Nephropathy, Susceptibility To, 1	Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni...	OMIM:161950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Hypertens...	OMIM:263200
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrophic cardiomyopathy, Pulm...	OMIM:615382
Variegate Porphyria	Tachycardia, Porphyrinuria, Elevated urinary delta-aminolevulinic acid, Increased urinary porphob...	OMIM:176200
Coach Syndrome 3	Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr...	OMIM:619113
Hyperaldosteronism, Familial, Type Iv	Hypertension, Elevated aldosterone:renin ratio, Hyperaldosteronism	OMIM:617027
Cryoglobulinemia, Familial Mixed	Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated...	OMIM:123550
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Nephronophthisis 9	Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis	OMIM:613824
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort...	ORPHA:556037
Ring Chromosome 8 Syndrome	Polyhydramnios, Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Edema, Sta...	OMIM:617731
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Familial Hypoaldosteronism	Renal salt wasting, Hyperkalemia, Metabolic acidosis, Orthostatic hypotension, Hypotension, Hypov...	ORPHA:427
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Decreased body weight, Focal segmental glo...	OMIM:618347
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Nephrotic syndrome, Mesangial hypercellularity, Enterocolitis, Focal segmental glomerulosclerosis	OMIM:620425
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Metabolic acidosis, Small for gestational age, Renal tubular acidosis, Dehy...	OMIM:208085
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ...	OMIM:619747
Combined Oxidative Phosphorylation Deficiency 52	Metabolic acidosis, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine...	OMIM:619386
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Pulmonary edema, Elevated diastolic blood pressur...	ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortoc...	ORPHA:231632
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Cerebellar hemorrhage, Methylmalonic acidemia, Pancreatitis, Cardiomyopathy, Deh...	OMIM:251000
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros...	OMIM:256370
Nephrotic Syndrome, Type 12	Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa...	OMIM:616892
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hypokalemic Tubulopathy And Deafness	Renal salt wasting, Hyperaldosteronism, Acidosis, Increased circulating renin level	OMIM:619406
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612926
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti...	ORPHA:1501
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Lactic acidosis, Elevated lactate:pyruvate ratio, Dehydration, Episodic ketoacidosis, Metabolic k...	OMIM:615453
Rhyns Syndrome	Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Polyhydramnios, Decreased glomerular filtration rate, Hyperchloridu...	OMIM:613090
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis	OMIM:216950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Polyhydramnios, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia,...	OMIM:300971
Familial Renal Glucosuria	Recurrent urinary tract infections, Dehydration, Glycosuria, Nephropathy, Renal tubular dysfunction	ORPHA:69076
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612924
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Hypertension, Tach...	OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Hypertension...	ORPHA:49041
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine, Hypert...	ORPHA:391457
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium...	OMIM:618314
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Hypotension, Renal tubular acidosis	ORPHA:79155
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Renal Hypoplasia, Bilateral	Hyperkalemia, Metabolic acidosis, Decreased glomerular filtration rate, Small for gestational age...	ORPHA:97362
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Hyperprolinemia, L...	ORPHA:79246
Renal Glucosuria	Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria	OMIM:233100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Anasarca, Facial edema, Minimal change glomerulonephritis, Hypertension, Hyperli...	ORPHA:567546
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Hypokalemic alkalosis, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Bartter Syndrome Type 4	Nephrocalcinosis, Hyperaldosteronism, Stage 5 chronic kidney disease, Acute kidney injury, Severe...	ORPHA:89938
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Failure to thrive	OMIM:263000
Frasier Syndrome	Glomerulopathy, Hypertension, Focal segmental glomerulosclerosis, Hypergonadotropic hypogonadism,...	ORPHA:347
Hawkinsinuria	Metabolic acidosis, Hypothyroidism, Failure to thrive, Abnormal circulating tyrosine concentratio...	ORPHA:2118
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Episodic ketoacidosis, Failure to thrive, Aminoaciduria, Ketoacidosis	OMIM:236795
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Central Diabetes Insipidus	Diabetes insipidus, Dehydration, Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Cardiomyopathy, Dehydration, Hyperammonemia, Failure to thrive, Renal insufficiency	ORPHA:79312
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotensi...	OMIM:611489
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Cardiomyopathy, Dilated, 1Ii	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr...	OMIM:615184
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Metabolic acidosis, Blue urine, I...	ORPHA:94086
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti...	OMIM:162000
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei...	OMIM:301006
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal...	ORPHA:276621
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Hypertonic dehydration, Nephrogenic diabetes insipidus, Hypernatremia, Failure to thriv...	OMIM:125800
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Diabetes insipidus, Hypertonic dehydration, Hypernatremia, Failure to thrive, Megacystis	OMIM:304800
Bartter Syndrome, Type 2, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:241200
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency	OMIM:613743
Hypomagnesemia 3, Renal	Hypertension, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated c...	OMIM:248250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Combined Oxidative Phosphorylation Deficiency 9	Metabolic acidosis, Elevated lactate:pyruvate ratio, Elevated serum anion gap, Hyperalaninemia, H...	OMIM:614582
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventri...	OMIM:212138
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Familial Hyperaldosteronism Type Iii	Polydipsia, Prolonged QT interval, Hypokalemia, Hypercalciuria, Hypertension, Abnormal circulatin...	ORPHA:251274
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Metabolic acidosis, Alaninuria, Increased circulating lactate concentration	OMIM:615158
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hypotension, Nephrotic syndrome,...	ORPHA:85445
Cystinosis	Delayed puberty, Hypokalemia, Nephropathy, Dehydration, Portal hypertension, Nephrogenic diabetes...	ORPHA:213
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Gitelman Syndrome	Polydipsia, Polyuria, Delayed puberty, Prolonged QT interval, Hypokalemia, Hypocalciuria, Renal p...	OMIM:263800
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Malar r...	ORPHA:231111
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increas...	OMIM:177735
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Orthostatic hypotension, Recurrent urinary tract infections, Neurogenic bladder, Ves...	OMIM:191800
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Hypertension, ...	OMIM:612780
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Hypotensio...	ORPHA:91547
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Acute Adrenal Insufficiency	Delayed puberty, Decreased circulating cortisol level, Increased circulating renin level, Hyponat...	ORPHA:95409
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Short Chain Acyl-Coa Dehydrogenase Deficiency	Metabolic acidosis, Cardiomyopathy, Ethylmalonic aciduria, Failure to thrive, Increased level of ...	ORPHA:26792
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Metabolic acidosis, Lactic acid...	OMIM:606054
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Metabolic acidosis, Glycosuria, Hyperphosphaturia, Elevated cir...	OMIM:615605
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
2P21 Microdeletion Syndrome	Lactic acidosis, Hypocalcemia, Nephrolithiasis, Failure to thrive, Hypogonadism, Cystinuria	ORPHA:163693
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerula...	OMIM:104200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Coenzyme Q10 Deficiency, Primary, 1	Lactic acidosis, Glomerular sclerosis, Recurrent myoglobinuria, Elevated circulating creatine kin...	OMIM:607426
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kin...	OMIM:255100
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein...	OMIM:601894
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Portal hype...	OMIM:619902
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Metabolic acidosis, Bradycardia, Hyperalaninemia, Increased circulating...	OMIM:619048
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Coenzyme Q10 Deficiency, Primary, 3	Increased circulating lactate concentration, Nephrotic syndrome, Proteinuria, Edema, Hypoalbuminemia	OMIM:614652
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Lactic acidosis, Increased circul...	OMIM:617872
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Hypertension, Increased blood urea nitrogen, Obesity, Hypercalc...	ORPHA:251004
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Renal salt wasting, Hyperkalemia, Increased circulating androstenedione concentration, Penoscrota...	ORPHA:90791
Orthostatic Intolerance	Orthostatic tachycardia, Elevated urinary norepinephrine level	OMIM:604715
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Decreased serum bicarbonate concentration, Metabolic acidosis, Hypokalemia, Hyperchloremic acidos...	OMIM:604278
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Anasarca, Polyhydramnios, Metabolic acidosis, Elevated circulatin...	OMIM:618183
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis...	OMIM:613496
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyp...	ORPHA:542323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal...	ORPHA:29072
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s...	ORPHA:54370
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Lactic acidosis, Pancreatitis, Decreased glomerular filtration ...	OMIM:232200
Glucose-Galactose Malabsorption	Hematuria, Dehydration, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight ...	ORPHA:35710
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Dicarboxylic aciduria, Decreased circulating carnitine concentration, C...	OMIM:212140
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Proximal tubulopathy, Dehydration, Failure to thrive, Type I diabetes mellitus	OMIM:560000
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Colchicine Poisoning	Myocarditis, Abnormal blood ion concentration, Congestive heart failure, Lactic acidosis, Metabol...	ORPHA:31824
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Beta-Ketothiolase Deficiency	Metabolic acidosis, Hyperuricemia, Hypertension, Dehydration, Hypotension, Increased circulating ...	ORPHA:134
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Metabolic acidosis, Dehydration, Hypovolemic shock, Atopic dermatitis, Glucocortoco...	ORPHA:171876
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Metabolic ...	OMIM:276700
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Acute kidney injury, Scleritis, Pancreatitis, Decreased glomerular filtr...	ORPHA:93126
East Syndrome	Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Met...	ORPHA:199343
Gaisböck Syndrome	Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Coronary...	ORPHA:90041
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Abnormality of the urinary system, Hypotension	OMIM:267430
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Elevated urinary norepinephrine level, Hypercalc...	OMIM:171420
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Transient ischemic attack, Increased circulating lactate concentration...	OMIM:274150
Aicardi-Goutieres Syndrome 9	Hypertension, Ascites, Chilblains, Pericarditis, Edema, Stage 5 chronic kidney disease, Portal hy...	OMIM:619487
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Isovaleric Acidemia	Cerebellar hemorrhage, Metabolic acidosis, Hyperglycinuria, Dehydration, Elevated urinary isovale...	OMIM:243500
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Arrhythmia, Renal insuff...	ORPHA:54057
Galactosemia I	Increased level of galactitol in red blood cells, Metabolic acidosis, Galactosuria, Increased lev...	OMIM:230400
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Cardiomyopathy, Dehydration, Hyperammonemia, Renal insufficiency	ORPHA:27
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Snakebite Envenomation	Acute kidney injury, Hypotension, Cerebral ischemia, Hyponatremia, Cardiogenic shock, Epistaxis, ...	ORPHA:449285
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Macular edema, Glomerular sclerosis, Skin rash, Hypertension, Cardio...	ORPHA:247691
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Increased level of hippuric acid in urine, Metabolic acidosis, Hyperuricemia, ...	OMIM:246450
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, F...	OMIM:301108
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Tubulointerstitial fibrosis, Hypertension...	ORPHA:79259
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Hypokalemia, Hypertension, Abnormal circulating renin, Nephrolithiasis, Pulmonary art...	ORPHA:369929
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Lactic acidosis, Metabolic acidosis, Hematuria, Hypertension, Ascites, Pulmonary arterial hyperte...	OMIM:617021
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Decreased serum bicarbonate concentration, Hypocitraturia, Decr...	ORPHA:18
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Hypotensio...	OMIM:620300
Cholera	Acute kidney injury, Lactic acidosis, Hypokalemia, Tachycardia, Hypocalcemia, Dehydration, Hypote...	ORPHA:173
Joubert Syndrome 15	Nephronophthisis, Micropenis	OMIM:614464
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Hypophosphatemia, Episodic me...	OMIM:219800
Glucose/Galactose Malabsorption	Glycosuria, Failure to thrive, Metabolic acidosis, Hypertonic dehydration	OMIM:606824
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Neonatal death, Metabolic acidosis, Dehydration	OMIM:602199
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Metabolic acidosis, Renal tubular acidosis, Nephrogenic diabetes insipidus,...	OMIM:613404
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag...	OMIM:613550
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Metabolic acidosis, Isothenuria, Hypokalemia, Failure to thrive, Nephrocalcinosis, Distal renal t...	OMIM:611590
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Metabolic acidosis, Recurrent urinar...	ORPHA:93598
Microvillus Inclusion Disease	Metabolic acidosis, Dehydration, Hypovolemia, Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Senior-Boichis Syndrome	Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Aggressive behavior, H...	ORPHA:84081
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Lactic acidosis, Cachexia, Proximal tubulopathy, Failure to thrive, Severe lactic acidosis, Weigh...	OMIM:612075
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Dehydration, Gl...	ORPHA:411629
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension...	ORPHA:159
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia, Nephrogenic dia...	ORPHA:223
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Dehydration, Ascites, Decreased body weight, Central hypothyroidism, Hyperamm...	ORPHA:1667
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Glycogen Storage Disease Ic	Delayed puberty, Lactic acidosis, Hematuria, Decreased glomerular filtration rate, Metabolic acid...	OMIM:232240
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Hyp...	ORPHA:93108
Adrenal Hypoplasia, Congenital	Renal salt wasting, Delayed puberty, Adrenal hypoplasia, Dehydration, Precocious puberty, Hyponat...	OMIM:300200
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me...	OMIM:617730
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Lactic acidosis, Elevated serum anion gap, Elevated circulating crea...	OMIM:618120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	3-Methylglutaconic aciduria, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:614053
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v...	ORPHA:90064
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Diabetes insipidus, Megaloblastic anemia, Abnormal autonomic nervous ...	OMIM:598500
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Hyperechogenic kidn...	OMIM:617595
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Metabolic acidosis, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephr...	OMIM:616026
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:268200
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Organic aciduria, Neonatal death, Hypertrophic cardiomyopathy	OMIM:617184
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Orthostatic hypotension, Orthostatic syncope, Dehydration, Elevated urinary dop...	ORPHA:230
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi...	OMIM:251110
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Stage 5 chronic ...	OMIM:618061
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Glomerular sclerosis, Hypertension, Increased blood urea nitrogen, Abnor...	OMIM:223900
Lipoyltransferase 1 Deficiency	Lactic acidosis, Bradycardia, Pulmonary arterial hypertension, Increased circulating lactate conc...	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 5	Abnormal renal tubule morphology, Lactic acidosis, Metabolic acidosis, Ascites, Hypertrophic card...	OMIM:611719
Jeune Syndrome	Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hypernatriuria, Decreased circulating ...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hypernatriuria, Decreased circulating ...	ORPHA:289548
Hyperoxaluria, Primary, Type I	Hematuria, Metabolic acidosis, Calcium oxalate nephrolithiasis, Hyperoxaluria, Dehydration, Inter...	OMIM:259900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl...	OMIM:614376
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Familial Hyperaldosteronism Type I	Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Hypertension, Abn...	ORPHA:403
Senior-Loken Syndrome 9	Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis	OMIM:616629
Pyruvate Dehydrogenase E3 Deficiency	Lactic acidosis, Decreased circulating carnitine concentration, Abnormal cardiac ventricular func...	ORPHA:2394
Orthostatic Hypotensive Disorder, Streeten Type	Syncope, Orthostatic hypotension	OMIM:143850
Frasier Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:136680
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Lactic acidosis, Pancreatitis, Decreased glomerular filtration ...	OMIM:232220
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Methylmalonic acidemia, Metabolic ...	OMIM:251100
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Hypotension, Pericarditis, Arrhythmia, Oliguria, R...	ORPHA:188
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Mercury Poisoning	Acute kidney injury, Hypokalemia, Hypertension, Hypotension, Tachycardia	ORPHA:330021
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Tubular basement membrane disintegration, Hypertension, Renal tubular atrophy, ...	OMIM:613159
Perry Syndrome	Hypotension	ORPHA:178509
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Ren...	OMIM:619053
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Hypertension, Nephrotic syndrome, Failure to thrive, Coarctation of aorta, ...	OMIM:617729
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Metabolic acidosis, Low plasma citrulline, Lact...	OMIM:615751
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Renal insufficiency	ORPHA:3327
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol...	OMIM:615026
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis	OMIM:619428
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Abnormality of thyroid physiology, Pancreatitis, Minim...	ORPHA:1830
Attrv30M Amyloidosis	Cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormal renal physiology, Arrhythm...	ORPHA:85447
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Anasarca, Nephropathy, Pleural effusion, Focal segmental glomerulosclerosis, Neph...	OMIM:254900
Bardet-Biedl Syndrome 19	Renal hypoplasia, Obesity, Hydronephrosis, Hypogonadism, Renal insufficiency	OMIM:615996
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Increased total bilirubin, Abnormal urinary color	ORPHA:90037
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Generalized edema, Proteinuria, Chronic ki...	OMIM:615244
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr...	OMIM:612933
Image Syndrome	Adrenal hypoplasia, Hydronephrosis, Hypospadias, Hypogonadism	ORPHA:85173
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis, Hydronephrosis, Hydroureter	OMIM:264140
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Hypertension, Uric ...	ORPHA:976
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hydronephrosis, Adrenal insufficiency	ORPHA:251076
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Renal tubular dys...	ORPHA:37553
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyp...	OMIM:239200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Recurrent urinary tract infections, P...	OMIM:613095
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Netherton Syndrome	Ectopic kidney, Skin rash, Dehydration, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Amin...	ORPHA:634
Gracile Syndrome	Chronic lactic acidosis, Increased serum pyruvate, Increased circulating iron concentration, Incr...	OMIM:603358
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper...	ORPHA:47159
Alport Syndrome 2, Autosomal Recessive	Hematuria, Hypertension, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, P...	OMIM:203780
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Edema, Elevated circulating creatinine concentration, Glomerulonephritis, M...	ORPHA:36234
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Hyperlipidemia, Increased b...	OMIM:235400
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Hypertension, Dehydration, Failure to thrive, Coarctation of aorta, Recurrent pne...	OMIM:616069
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ...	OMIM:243910
Lessel-Kubisch Syndrome	Renal hypoplasia, Hypertension, Renal insufficiency, Hypogonadism	OMIM:618681
Mitochondrial Pyruvate Carrier Deficiency	Lactic acidosis, Increased serum pyruvate, Organic aciduria, Increased circulating lactate concen...	OMIM:614741
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin...	ORPHA:368
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Hyperli...	ORPHA:189427
X-Linked Intellectual Disability, Schimke Type	Failure to thrive in infancy, Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Sulfite Oxidase Deficiency, Isolated	Metabolic acidosis, Decreased urinary sulfate, Elevated circulating creatine kinase concentration...	OMIM:272300
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Pure Autonomic Failure	Urinary incontinence, Abnormality of circulating catecholamine level, Orthostatic hypotension, Dy...	ORPHA:441
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Increased circul...	ORPHA:85138
Senior-Loken Syndrome 8	Stage 5 chronic kidney disease, Global glomerulosclerosis, Nephronophthisis, Glomerular subepithe...	OMIM:616307
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Hyperchloremic acidosis, Proximal ...	OMIM:179830
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Gitelman Syndrome	Delayed puberty, Urinary incontinence, Prolonged QT interval, Renal potassium wasting, Prominent ...	ORPHA:358
Liddle Syndrome	Hypokalemia, Renal insufficiency, Hypertension, Cerebral ischemia, Arrhythmia, Nephropathy	ORPHA:526
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Hypertension, Cardiomyopathy, Ataxia, Arrhythmia, Renal insufficiency	ORPHA:3222
46,Xy Sex Reversal 4	Recurrent otitis media, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Ureteropel...	OMIM:154230
Nipah Virus Disease	Hypotension	ORPHA:99825
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Achilles t...	OMIM:617994
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent...	OMIM:613424
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Elevated circulating creatine kinase concentration, Focal segmental glomerul...	OMIM:616239
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Metabolic acidosis, Hypokalemia, Renal tubular dysfunction, Gly...	OMIM:134600
Dihydropyrimidinase Deficiency	Uraciluria, Metabolic acidosis, Elevated urinary dihydrothymine level, Elevated urinary dihydrour...	OMIM:222748
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abnormality of the kidney, Intermittent lactic acidemia, Postprandial hyperlacte...	ORPHA:369
Epidermolysis Bullosa Simplex With Pyloric Atresia	Polyhydramnios, Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinas...	ORPHA:158684
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ...	OMIM:620085
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Hyperchloremic metabolic acidosis, Dehydration	OMIM:610370
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocio...	OMIM:614736
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Ataxia, Arrhythmia	ORPHA:104
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 10	Lactic acidosis, Metabolic acidosis, Bradycardia, Hyperalaninemia, Ascites, Hypertrophic cardiomy...	OMIM:614702
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Lactic acidosis, Hypocalcemia, Nephrolithi...	OMIM:606407
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, ...	ORPHA:404
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydronephrosis, Hydroureter	OMIM:618240
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Neuroleptic Malignant Syndrome	Urinary incontinence, Bradycardia, Myoglobinuria, Hypertension, Hypertensive crisis, Acute kidney...	ORPHA:94093
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati...	ORPHA:324525
Hereditary Coproporphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hyp...	ORPHA:79273
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Lactic acidosis, Cardiomyopathy, Failure to thrive	ORPHA:67048
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ...	ORPHA:564178
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Arrhyt...	ORPHA:57
Coach Syndrome 2	Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys	OMIM:619111
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hypopituitarism...	OMIM:602152
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Metabolic acidosis, Generalized aminoaciduria, Renal tubular acidosis, Hype...	ORPHA:2088
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Hypokalemia, Hyperactive renin-angiotensin system, Dehydration, Hypochloremia, In...	OMIM:214700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Metabolic acidosis, Heart block, Myoglo...	ORPHA:228308
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Decreased circulating free f...	ORPHA:276556
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Multiple Mitochondrial Dysfunctions Syndrome 1	Lactic acidosis, Hyperglycinuria, Alpha-aminoadipic aciduria, Pulmonary arterial hypertension, In...	OMIM:605711
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Hyperparathyroidism, Rena...	OMIM:617671
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Renal artery stenosis, Elevated urinary norepine...	OMIM:171300
Mitochondrial Complex I Deficiency, Nuclear Type 33	Lactic acidosis, Metabolic acidosis, Hypospadias, Aspiration pneumonia, Increased circulating lac...	OMIM:618253
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A...	OMIM:612158
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell h...	OMIM:171400
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidos...	OMIM:615330
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Decreased serum bicarbonate concentration, Antenatal intra...	OMIM:608836
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Hypot...	ORPHA:254913
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Arteriosclerosis, Hypertension, T...	OMIM:242900
Pyruvate Carboxylase Deficiency	Lactic acidosis, Increased serum pyruvate, Hyperalaninemia, Increased circulating lactate concent...	OMIM:266150
3-Hydroxy-3-Methylglutaric Aciduria	Metabolic acidosis, Hyperuricemia, Cardiac arrest, Hypotension, Dehydration, Increased circulatin...	ORPHA:20
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Elevated urin...	ORPHA:90794
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Heme Oxygenase 1 Deficiency	Hematuria, Elevated circulating C-reactive protein concentration, Hypertension, Nephritis, Epista...	OMIM:614034
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconic aciduria, Urinary incontinence, Metabolic acidosis, Failure to thrive	OMIM:250950
Mitochondrial Complex I Deficiency, Nuclear Type 29	Lactic acidosis, Elevated lactate:pyruvate ratio, Hyperalaninemia, Hypertrophic cardiomyopathy, I...	OMIM:618250
Orthostatic Hypotension 1	Orthostatic hypotension, Reduced circulating prolactin concentration, Atrial fibrillation, Increa...	OMIM:223360
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval,...	ORPHA:31826
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Inflammatory abnormality of the sk...	ORPHA:94059
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Legionnaires Disease	Myocarditis, Hematuria, Hypotension, Pericarditis, Hyponatremia, Ataxia, Proteinuria, Arrhythmia,...	ORPHA:549
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	3-Methylglutaconic aciduria, Lactic acidosis, Hyperalaninemia, Increased circulating lactate conc...	OMIM:614739
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Abnormal medullary pyramid morphology	ORPHA:79243
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr...	ORPHA:2364
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Enlarged kidney, Focal segmental glomerulosclerosis, Hypertrophic cardi...	OMIM:617303
Panhypophysitis	Polydipsia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95513
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Renal insufficiency, Abnormal autonom...	ORPHA:330001
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Decreased circulating free f...	ORPHA:276575
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension	ORPHA:199296
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration, Transient neonatal diabetes mellitus	OMIM:601410
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Lactic acidosis, Polyhydramnios, Renal tubular acidosis, Cardiomyopathy, Renal cyst, ...	OMIM:614922
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Cachexia, Ascites, Precocious atherosclerosis, Hypernatriuria, Coronary art...	ORPHA:275761
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Igg4-Related Aortitis	Abnormal aortic arch morphology, Elevated circulating C-reactive protein concentration, Ascending...	ORPHA:449400
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Lactic acidosis, Hydrops fetalis, Myoglobinuria, Elevated circulating c...	OMIM:609015
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria, Diabetes insipidus	ORPHA:95626
Primary Hyperoxaluria	Heart block, Hematuria, Aciduria, Metabolic acidosis, Calcium oxalate nephrolithiasis, Hypercalci...	ORPHA:416
Myh9-Related Disease	Renal insufficiency, Spontaneous, recurrent epistaxis, Nephritis, Proteinuria, Nephropathy, Myoca...	ORPHA:182050
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Hypertension, Renal cyst, Portal hypertension, Stage...	OMIM:216360
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced left ventricular ejection ...	OMIM:614096
Hawkinsinuria	Hawkinsinuria, Metabolic acidosis, Hypertyrosinemia, Failure to thrive, 4-Hydroxyphenylpyruvic ac...	OMIM:140350
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Metabolic acidosis, Hyperglutamate...	ORPHA:3008
Bardet-Biedl Syndrome 9	Polydipsia, Renal insufficiency, Polyphagia	OMIM:615986
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Bradycardia, C...	OMIM:277400
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Lactic acidosis, Hydrops fetalis, Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated ...	OMIM:618815
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Glutaric aciduria, Lactic acidosis, Metabolic acidosis, Decreased circu...	ORPHA:26791
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorpti...	ORPHA:73224
Pediatric-Onset Graves Disease	Polydipsia, Congestive heart failure, Increased circulating T4 concentration, Increased circulati...	ORPHA:525731
Tetanus	Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated circulating creatine kina...	ORPHA:3299
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Failure to thri...	OMIM:615824
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Hypertension, Dehydration,...	ORPHA:90038
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Metabolic acidosis, Decreased circulating carnitine concentration, Hyperglycinuria, Seborrheic de...	OMIM:210210
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Vesicoureteral Reflux 3	Polyhydramnios, Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux,...	OMIM:613674
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Dicarboxylic aciduria, Lactic acidosis, Decrease...	ORPHA:99901
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Lactic acidosis, Aminoaciduria	OMIM:609560
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee...	ORPHA:33543
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Metabolic ...	ORPHA:79282
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Fabry Disease	Delayed puberty, Congestive heart failure, Urinary mulberry cells, Anemia, Angina pectoris, Hyper...	OMIM:301500
Mitochondrial Complex I Deficiency, Nuclear Type 26	Increased circulating lactate concentration, Elevated lactate:pyruvate ratio, Metabolic acidosis,...	OMIM:618247
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis...	OMIM:618594
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Facial telangiectasia, H...	OMIM:620141
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular...	OMIM:301050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Chronic kidney disease	OMIM:615630
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Decreased circulating androstenedione concentration, Hypospadias, Elevated serum 11...	OMIM:201750
2,4-Dienoyl-Coa Reductase Deficiency	Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Metabolic acidosis, Hyperl...	OMIM:616034
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Methylmalonic aciduria, Lactic acidosis, Elevated lactate:pyruvate ratio, Failur...	OMIM:245400
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss, Elevated circulating creatinine concentration, Pulmonary ven...	ORPHA:90060
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension, Micropenis	OMIM:613870
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst	OMIM:613390
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Hypokalemia	OMIM:188580
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hype...	OMIM:620366
Pediatric Systemic Lupus Erythematosus	Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus rash, Pleural e...	ORPHA:93552
Lactase Deficiency, Congenital	Metabolic acidosis, Dehydration	OMIM:223000
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Pal...	ORPHA:324575
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma, Dehydration	ORPHA:313
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Metabolic acidosis, Elevated circulating suberic acid concentration, Increased serum pyruvate, Hy...	OMIM:615160
Systemic Lupus Erythematosus	Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis	OMIM:152700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Syncope, Palpitations	ORPHA:276580
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension	ORPHA:83317
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Denys-Drash Syndrome	Enlarged kidney, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neonatal d...	OMIM:194080
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Hypokalemia, Dehydration, Failure to thrive, Proteinuria...	OMIM:619377
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618958
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Lactic acidosis, Metabolic acidosis, Premature pubarche, Prolonged QTc interval, Myoglobinuria, C...	OMIM:616878
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Metabolic acidosis, Beta-alaninuri...	OMIM:614105
Mitochondrial Complex I Deficiency, Nuclear Type 39	Lactic acidosis, Hypospadias, Hypertrophic cardiomyopathy, Oligohydramnios, Small for gestational...	OMIM:620135
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Tubulointerstitial fibrosis, Rheumatoid arthritis, Hypothyroidism, Recurr...	OMIM:607944
Malonyl-Coa Decarboxylase Deficiency	Lactic acidosis, Metabolic acidosis, Elevated urine suberic acid level, Left ventricular noncompa...	OMIM:248360
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, P...	ORPHA:100080
Sengers Syndrome	3-Methylglutaconic aciduria, Lactic acidosis, Cardiac arrest, Pulmonary arterial hypertension, In...	OMIM:212350
Meningococcal Meningitis	Renal insufficiency, Hypotension, Elevated circulating C-reactive protein concentration, Shock	ORPHA:33475
Melas	Proximal tubulopathy, Cardiomyopathy, Recurrent pancreatitis, Type I diabetes mellitus, Concentri...	ORPHA:550
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Pearson Marrow-Pancreas Syndrome	Lactic acidosis, Metabolic acidosis, Hydrops fetalis, Small for gestational age, Hypercalciuria, ...	OMIM:557000
Pearson Syndrome	Cardiomyopathy, Hypophosphatemia, Adrenal insufficiency, Lacticaciduria, Decreased response to gr...	ORPHA:699
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Hypercalciuria, Re...	ORPHA:99880
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 7	Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro...	OMIM:613690
Thyrocerebroretinal Syndrome	Goiter, Nephritis	OMIM:274240
Dengue Fever	Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Epistaxis, Cerebral hemorrhage	ORPHA:99828
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Dehydration, Abnormality of the upper urinary tract...	ORPHA:99885
Cutaneous Mastocytoma	Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Eleva...	OMIM:201910
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Maturity-onset diabetes...	OMIM:137920
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Dehydration, Hematochezia, Abnormal circulating polys...	ORPHA:103910
Lethal Congenital Contracture Syndrome 2	Edema, Polyhydramnios, Dilated cardiomyopathy, Hydronephrosis	OMIM:607598
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Simple Cryoglobulinemia	Abnormality of the kidney, Gastrointestinal hemorrhage, Congestive heart failure, Vasculitis, Art...	ORPHA:91139
Shigellosis	Myocarditis, Urethritis, Acute kidney injury, Pneumonia, Hemolytic-uremic syndrome, Acute colitis...	ORPHA:810
Mitochondrial Complex I Deficiency, Nuclear Type 15	Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Fai...	OMIM:618237
Reticular Dysgenesis	Chronic otitis media, Skin rash, Dehydration, Failure to thrive, Weight loss, Aplasia/Hypoplasia ...	ORPHA:33355
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Whipple Disease	Myocarditis, Polydipsia, Gastrointestinal hemorrhage, Anorexia, Myositis, Hypotension, Hypothyroi...	ORPHA:3452
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Increased total bilirubin, Abnormal urinary color	ORPHA:90036
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypocalcemia, Hypercalciuria, Hypotension, Hypermagnesiuria, Nephrocalc...	ORPHA:428
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Vasculitis, Recurrent sinusitis, Sept...	OMIM:610984
Parathyroid Carcinoma	Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le...	ORPHA:143
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Hsd10 Disease, Infantile Type	Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate c...	ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati...	OMIM:600649
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Decreased body weight, Hydronephrosis, Nonimmune hydrops fetalis, Vesicoureteral reflux	OMIM:618265
Wolfram Syndrome	Polydipsia, Delayed puberty, Gastrointestinal hemorrhage, Male hypogonadism, Diabetes insipidus, ...	ORPHA:3463
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Lactic acidosis, Metabolic acidosis, Low-output congestive heart failure, Hypertrophic cardiomyop...	ORPHA:91130
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis	OMIM:619603
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Abnormal blood ion concentration, Ed...	ORPHA:79404
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Hematuria, Aortic regurgitation, Melena, Hypotension, Pulmonic steno...	ORPHA:99147
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Decreased body weight, Nephroptosis	OMIM:617564
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ...	ORPHA:2298
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Hereditary Central Diabetes Insipidus	Polydipsia, Diabetes insipidus	ORPHA:30925
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Decreased circulating carnitine concentration, Hyperglycinuria, Elevated urin...	OMIM:201450
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Renal Tubular Acidosis Iii	Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia	OMIM:267200
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive, Hydronephrosis, Osteom...	OMIM:619218
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure, Elevated circulating tetradecanoylcarnitine concentration, Dicarboxylic...	OMIM:619355
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Severel...	OMIM:611705
Cocaine Intoxication	Ischemic stroke, Acute kidney injury, Prolonged QT interval, Hematuria, Supraventricular arrhythm...	ORPHA:90068
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, Episodic metabolic acidosis, 3-hydroxyisovaleric aciduri...	OMIM:210200
Combined Oxidative Phosphorylation Deficiency 33	Lactic acidosis, Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiac arre...	OMIM:617713
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Hypertension, Hypotension, Gait disturbance, Gait ataxia, Urinary bladder sphincter...	ORPHA:93256
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Acute kidney injury, Glomerulopathy, Abnormality of endocrine pancreas physiology, Hy...	ORPHA:93111
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Decreased response to growth hormone stimulation test, Unilateral renal age...	OMIM:609757
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Hypertension, Gait disturbanc...	ORPHA:1764
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock	ORPHA:70578
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hyperammonemia, Failure to thrive, Hydronephrosis, Conjugated hyper...	OMIM:617093
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Elevated circulating creatine kinase concentration, Adrenocortical hypoplasia	ORPHA:408
Atresia Of Urethra	Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, Dilatation of the bladd...	ORPHA:105
D-Glyceric Aciduria	Metabolic acidosis, Nonketotic hyperglycinemia, Hyperglycinuria, Increased circulating free fatty...	ORPHA:941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Lactic acidosis, Prolonged QT interval, Decreased circulating carnitine co...	ORPHA:71212
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Elevated hemoglobin ...	OMIM:203800
Maple Syrup Urine Disease, Type Ia	Lactic acidosis, Increased level of hippuric acid in urine, Pancreatitis, Elevated circulating br...	OMIM:248600
Glutaric Acidemia Type 3	Glutaric aciduria, Failure to thrive, Abnormal circulating enzyme concentration, Elevated circula...	ORPHA:35706
Serotonin Syndrome	Tachycardia, Acute kidney injury, Hypertension, Hypotension	ORPHA:43116
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased circulating lactate concentration, Hyperglycinemia, Lacticaciduria	OMIM:619063
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Lactic acidosis, Metabolic acidosis, Intraventricular hemorrhage, Elevated circulating creatine k...	OMIM:619055
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthenuria, Neuroge...	OMIM:615926
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Lactic acidosis, Hypospadias, Hypertension, Hyperalaninemia, Hypertr...	OMIM:614052
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100082
Encephalopathy, Ethylmalonic	Failure to thrive, Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Ethylmal...	OMIM:602473
Glutathione Synthetase Deficiency	Chronic metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:266130
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis, Aminoaciduria	OMIM:204730
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Holocarboxylase Synthetase Deficiency	Lactic acidosis, Metabolic acidosis, Skin rash, Organic aciduria, Hyperammonemia, 3-hydroxyisoval...	OMIM:253270
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, S...	ORPHA:91500
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Hypertension, Budd-Chiari syndro...	ORPHA:447
Familial Glucocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Recurrent urinary tract infections, Decreased circulating dehyd...	ORPHA:361
Pyruvate Dehydrogenase E1-Alpha Deficiency	Chronic lactic acidosis, Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Hyperalan...	OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Bradycardia, Decreased circulating carnitine concentration, Cardiac arrest, H...	OMIM:618235
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Right aortic arch, Renal cyst, Systolic heart murmur, Generalized edema,...	OMIM:617478
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hyperalaninemia, Aciduria, Increased circulating lactate concentration	OMIM:617950
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Hypertension, Dysuria, Tachycar...	OMIM:176000
Alagille Syndrome 1	Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux...	OMIM:118450
Cockayne Syndrome Type 1	Hypertension, Increased blood urea nitrogen, Failure to thrive, Proteinuria, Conjunctivitis, Male...	ORPHA:90321
Marburg Hemorrhagic Fever	Bradycardia, Skin rash, Hyperammonemia, Pericarditis, Elevated circulating creatinine concentrati...	ORPHA:99826
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Increased circulating lactate concentration, Renal hypoplasia, Failu...	OMIM:604273
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash...	ORPHA:900
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Lactic acidosis, Metabolic acidosis, Wolff-Parkinson-White syndrome, Hy...	OMIM:618234
Al Amyloidosis	Abnormality of the kidney, Gastrointestinal hemorrhage, Renal interstitial amyloid deposits, Anem...	ORPHA:85443
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Elevated circulating carcinoembryonic antigen concentration, Abnormal circulating pr...	ORPHA:264675
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Metabolic acidosis, Increased circulating lactate concentration	OMIM:610090
Rabson-Mendenhall Syndrome	Polydipsia, Increased serum testosterone level, Hypokalemia, Long penis, Cardiomyopathy, Hypothyr...	ORPHA:769
3-Methylglutaconic Aciduria Type 9	3-Methylglutaconic aciduria, Urinary incontinence, Increased circulating lactate concentration, F...	ORPHA:505216
Desmoid Tumor	Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation	OMIM:619758
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder...	ORPHA:79473
Prune Belly Syndrome	Hydroureter, Hydronephrosis, Congenital posterior urethral valve, Oligohydramnios, Xerostomia	OMIM:100100
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Enteric Anendocrinosis	Type I diabetes mellitus, Hyperchloremic metabolic acidosis, Dehydration, Portal hypertension	ORPHA:83620
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure, Neonatal death, Metabolic acidosis	OMIM:301021
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Oligohydramnios, Proteinuria, Hypoalbumin...	OMIM:251300
Plasminogen Deficiency, Type I	Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Nephritis, Conjunctivitis	OMIM:217090
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lactic acidosis, Increased urine alpha-ketoglutarate concentration, Increased circulating lactate...	OMIM:614458
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	ORPHA:35708
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:600740
Lujo Hemorrhagic Fever	Myocarditis, Metabolic acidosis, Elevated circulating C-reactive protein concentration, Bradycard...	ORPHA:319213
Bronchial Neuroendocrine Tumor	Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, Cardiogen...	ORPHA:97287
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Paroxysmal at...	OMIM:613205
Microsporidiosis	Adrenocortical abnormality, Cachexia, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis...	ORPHA:2552
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Failure to thrive, Vesicoureteral reflux	OMIM:613735
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Polyhydramnios, Increased serum pyruvate, Increased circulating lactate...	OMIM:616794
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,...	OMIM:610205
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem...	OMIM:263300
Tetraploidy	Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:3305
Renal Nutcracker Syndrome	Hematuria, Orthostatic hypotension, Tachycardia, Renal artery stenosis, Microscopic hematuria, Pr...	ORPHA:71273
Erdheim-Chester Disease	Polydipsia, Congestive heart failure, Diabetes insipidus, Dysuria, Hydronephrosis, Renal insuffic...	ORPHA:35687
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy...	OMIM:227810
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Supraventricular tachycardia, Premature ventric...	ORPHA:423
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia	OMIM:617397
Sepsis In Premature Infants	Metabolic acidosis, Elevated circulating C-reactive protein concentration, Bradycardia, Tachycard...	ORPHA:90051
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level...	ORPHA:26793
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Decreased circulating carnitine concentration, Renal tubular acidosis, Organic acid...	ORPHA:431361
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Leprechaunism	Enlarged kidney, Hyperinsulinemia, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight...	ORPHA:508
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Dihydrolipoamide Dehydrogenase Deficiency	Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Hypertrophic cardiomyopathy, Ketoa...	OMIM:246900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Lactic acidosis, Oroticaciduria, Hyperglutamatemia, Hyperalaninemia, Increased c...	OMIM:620358
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Metabolic acidosis, Nonketotic hyperglycinemia, Br...	OMIM:220120
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Congestive heart failure, Polyhydramnios, Dehydration, Increased cir...	OMIM:616271
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Elevated circulating...	OMIM:300257
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis, Dehydration, Failure to thrive, Recurrent pneumonia, Small for gestational age	OMIM:214150
Mitochondrial Myopathy, Infantile, Transient	Lactic acidosis, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevate...	OMIM:500009
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Lactic acidosis, Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Incr...	OMIM:612073
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Multiple Endocrine Neoplasia Type 1	Hematemesis, Adrenocortical abnormality, Pheochromocytoma, Hypertension, Pituitary growth hormone...	ORPHA:652
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Neurogenic bladder, Cardiomyopathy, Hypothyroidism, Hydronephros...	OMIM:222300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Renal dysplasia, Unilateral renal atrophy, Nephritis, Pyelonephritis	OMIM:314300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Unilateral renal agenesis, Increased nuchal translucency, Renal hypoplasi...	OMIM:618494
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hypertension, Renal artery stenosis, Renal hypoplasia, Hyp...	OMIM:617913
Ileal Neuroendocrine Tumor	Hypotension, Tricuspid stenosis, Small intestine carcinoid, Pulmonic stenosis, Right ventricular ...	ORPHA:100078
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomyopathy, In...	OMIM:618378
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Gracile Syndrome	Lactic acidosis, Decreased transferrin saturation, Elevated hepatic iron concentration, Increased...	ORPHA:53693
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Metabolic acidosis, Vesicoureteral reflux, Cardiomyopathy, Hypoproteine...	OMIM:615895
Microscopic Polyangiitis	Congestive heart failure, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Pancreatitis, V...	ORPHA:727
Congenital Disorder Of Glycosylation, Type Ih	Ascites, Hypothyroidism, Failure to thrive, Neonatal death, Decreased circulating T4 concentratio...	OMIM:608104
Fructose-1,6-Bisphosphatase Deficiency	Lactic acidosis, Metabolic acidosis, Intermittent lactic acidemia, Hyperuricemia, Increased urina...	ORPHA:348
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Lactic acidosis, Hypertrophic cardiomyopathy, Increased circulating lac...	OMIM:616198
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera...	OMIM:301110
Johanson-Blizzard Syndrome	Hypospadias, Hypoplasia of penis, Hypoproteinemia, Failure to thrive, Hydronephrosis, Edema, Diab...	ORPHA:2315
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Abnormal left ventricular function, Polyhydramnios, Hypospadias, Duplicated collecting system, Ve...	OMIM:301056
Combined Oxidative Phosphorylation Deficiency 18	Lactic acidosis, Methylmalonic aciduria, Oligohydramnios, Increased circulating lactate concentra...	OMIM:615578
Fructose Intolerance, Hereditary	Bicarbonaturia, Gastrointestinal hemorrhage, Lactic acidosis, Metabolic acidosis, Hyperuricemia, ...	OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Hyperalaninemia, Cardiomyopathy, I...	OMIM:619046
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati...	ORPHA:534
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Parkinsonism-Dystonia 2, Infantile-Onset	Elevated urinary homovanillic acid, Hyperhidrosis, Abnormal autonomic nervous system physiology	OMIM:618049
Glutaric Acidemia I	Glutaric aciduria, Metabolic acidosis, Failure to thrive, Elevated circulating glutaric acid conc...	OMIM:231670
Secondary Short Bowel Syndrome	Primary hypothyroidism, Dehydration, Central hypothyroidism, Enterocolitis, Failure to thrive, We...	ORPHA:95427
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Lactic acidosis, Hypertrophic cardiomyopathy, Glycosuria, Hyperphosphaturia, Failure to thrive, P...	ORPHA:436271
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Distal Duplication 6P	Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system	ORPHA:1745
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydrops fetalis, Polyhydramnios, Hypospadias, Pleural effusion, Ascites, Hypertrophic cardiomyopa...	OMIM:616897
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Lactic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Glycos...	OMIM:220110
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Hypokalemia	OMIM:613239
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Dehydration, Sinusitis, Failure to thrive, Conjunctiv...	ORPHA:33110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation	OMIM:618541
Multiple Myeloma	Acute kidney injury, Abnormality of the bladder, Pleural effusion, Nephrotic syndrome, Hypercalce...	ORPHA:29073
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Abnormal urinary color	ORPHA:90033
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Goodpasture Syndrome	Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscop...	OMIM:233450
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Dicarboxylic aciduria, Metabolic acidosis, Increased circulating free fatty acid level, Hypophosp...	OMIM:605911
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate c...	OMIM:618228
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons...	OMIM:201810
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Hypotension, Hyperammonemia, Hypoalbuminemia	ORPHA:292
Liver Failure, Infantile, Transient	Dicarboxylic aciduria, Lactic acidosis, Hyperbilirubinemia, Increased circulating lactate concent...	OMIM:613070
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypopl...	ORPHA:3157
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiomyopathy, Nephrotic syndrome, Ur...	OMIM:105120
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnorm...	ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Horseshoe kidney, Increased circulating lactate concentration	OMIM:617664
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Recurrent otitis media, Elevated circulating creatine kinase concentration, Pulm...	OMIM:614921
Staphylococcal Necrotizing Pneumonia	Hypotension, Elevated circulating C-reactive protein concentration, Shock	ORPHA:36238
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Lactic acidosis, Metabolic acidosis, Lacticaciduria	OMIM:615595
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Arthriti...	ORPHA:411536
Fumarase Deficiency	Bilateral fetal pyelectasis, Lactic acidosis, Metabolic acidosis, Polyhydramnios, Hyperbilirubine...	OMIM:606812
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Prolon...	ORPHA:79102
Variant Abeta2M Amyloidosis	Chronic kidney disease, Abnormal autonomic nervous system physiology, Reduced left ventricular ej...	ORPHA:314652
Pheochromocytoma/Paraganglioma Syndrome 4	Elevated urinary catecholamine level, Hypertension associated with pheochromocytoma, Renal cell c...	OMIM:115310
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H...	ORPHA:157
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Metab...	ORPHA:79096
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Lactic acidosis, Metabolic acidosis, Hyperalaninemia, Pulmonary arterial hypertension, Increased ...	OMIM:619051
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Hype...	OMIM:620454
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Pulmonic ...	OMIM:220210
Riboflavin Transporter Deficiency	Diabetes insipidus, Abnormal cranial nerve morphology, Hypertension, Facial palsy, Abnormal auton...	ORPHA:97229
Necrotizing Enterocolitis	Hyponatremia, Shock, Hypotension, Bradycardia	ORPHA:391673
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Podocyte foot process effacement, Proteinuria, Diffuse mesangial scler...	OMIM:619609
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased urine alpha-ketoglutarate concentration, Increased circulatin...	OMIM:619224
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ...	ORPHA:470
Hsd10 Mitochondrial Disease	Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis, Hypertroph...	OMIM:300438
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Acute kidney injury, Gastrointestinal hemorrhage, Enlarged kidney, Increased serum bi...	ORPHA:731
Junctional Epidermolysis Bullosa With Pyloric Atresia	Polyhydramnios, Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication...	ORPHA:79403
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Scorpion Envenomation	Myocarditis, Congestive heart failure, Acute kidney injury, Increased circulating NT-proBNP conce...	ORPHA:466677
Ethylmalonic Encephalopathy	Failure to thrive, Lactic acidosis, Ethylmalonic aciduria	ORPHA:51188
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Pancreatitis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:620137
Methanol Poisoning	Metabolic acidosis, Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory art...	ORPHA:31825
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Abnormal aortic morphology, Hydronephrosis, Abnor...	ORPHA:1926
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis, ...	ORPHA:1727
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Hydronephrosis	OMIM:179613
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Combined Oxidative Phosphorylation Deficiency 30	Lactic acidosis, Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased circulating lactate ...	OMIM:616974
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Glycosuria, Proteinuria, Abnormal circulating fatty-acid concentration,...	ORPHA:263455
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Hyperhidrosis, Abnormal autonomic nervous system physiology	OMIM:615548
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul...	OMIM:601005
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased circulating lactate conc...	OMIM:617228
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Recurrent ski...	OMIM:617744
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Renal steatosis, Lactic acidosis, Ketonuria	OMIM:261680
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Polyhydramnios, Hydroureter, Fetal megacystis, Hydronephrosis, Neonatal death	OMIM:619362
Kearns-Sayre Syndrome	Lactic acidosis, Hypoparathyroidism, Renal tubular acidosis, Cardiomyopathy, Primary adrenal insu...	OMIM:530000
Bardet-Biedl Syndrome 3	Renal hypoplasia, Tricuspid regurgitation	OMIM:600151
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Lactic acidosis, Myoglobinuria, Elevated circulating creatine kinase...	OMIM:251900
Toxic Epidermal Necrolysis	Polydipsia, Gastrointestinal hemorrhage, Dysuria, Dysphagia, Renal insufficiency, Sudden cardiac ...	ORPHA:537
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaconic aciduria, Urinary incontinence, Increased circulating lactate concentration, F...	OMIM:617698
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis...	ORPHA:83601
Beta-Ureidopropionase Deficiency	Elevated urinary ureidoisobutyric acid level, Elevated circulating N-carbamoyl-beta-alanine conce...	OMIM:613161
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul...	ORPHA:100075
Joubert Syndrome 37	Obesity, Hydronephrosis, Micropenis	OMIM:619185
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Polyhydramnios, Hydronephrosis, Neonatal death, Urethral atresia	OMIM:314390
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hypoplastic aortic arch, Obesity, Hydronephrosis, Multicystic kidney d...	OMIM:620511
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas...	OMIM:615954
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n...	OMIM:231550
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Al-Gazali Syndrome	Polyhydramnios, Hydronephrosis, Recurrent pneumonia, Failure to thrive	OMIM:609465
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Loss of ambulation	ORPHA:79264
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Yellow Fever	Hematemesis, Acute kidney injury, Decreased serum bicarbonate concentration, Metabolic acidosis, ...	ORPHA:99829
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Hyperalaninemia	OMIM:245349
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Lactic acidosis, Lacticaciduria, Tricuspid regurgitation, ...	OMIM:619167
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Hypertension, Pleural effusion, Pulmonar...	OMIM:606721
Myotonic Dystrophy 2	Right bundle branch block, Elevated circulating creatine kinase concentration, Premature ventricu...	OMIM:602668
Hellp Syndrome	Acute kidney injury, Hypotension, Internal hemorrhage, Hemoglobinuria, Cerebral hemorrhage, Prote...	ORPHA:244242
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Increased circulating lactate concentration, Neonatal death, Edema, Small for ge...	OMIM:610498
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Esophagitis, Hydronephrosis, Decreased serum zinc, Diabetes mellitu...	ORPHA:541423
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Mirage Syndrome	Hyperkalemia, Hypospadias, Recurrent urinary tract infections, Adrenal hypoplasia, Microphallus, ...	OMIM:617053
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia	ORPHA:168593
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney, Hypoplastic aortic arch	OMIM:614846
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis	ORPHA:488613
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Incre...	ORPHA:70472
Multiple System Atrophy	Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction...	ORPHA:102
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Failure to thrive, Lactic acidosis, Abnormal circulating pyruvate family amino acid concentration...	ORPHA:255182
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Abnormal circul...	ORPHA:57777
Bardet-Biedl Syndrome 12	Hydroureter, Obesity, Hydronephrosis, Hypogonadism, Cystic renal dysplasia	OMIM:615989
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Lactic acidosis, Hypospadias, Renal tubular acidosis, Hyperalaninemia, Hypertrophic cardiomyopath...	OMIM:615471
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Coronary artery atherosclerosis, Renal artery stenosis, Diabetes mellitus, Proteinuria, Cerebral ...	OMIM:209010
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Portal hypertension	ORPHA:98850
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Cardiac arrest, Hepatitis, Nephrotic syndrome, Angioedema, P...	ORPHA:139402
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Joubert Syndrome 2	Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Increased circulating lactate concentration, Hypothyro...	OMIM:619147
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Lactic acidosis, Metabolic acidosis, Elevated lactate:pyruvate ratio, Cholangitis, Hypertyrosinem...	OMIM:124000
Myopathy With Lactic Acidosis, Hereditary	Lactic acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Increased cir...	OMIM:255125
Mitochondrial Myopathy With Lactic Acidosis	Elevated serum anion gap, Lactic acidosis, Increased serum pyruvate, Increased circulating lactat...	OMIM:251950
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Lactic acidosis, Prolonged QT interval, Elevated circulating creatine kinase concentration, Incre...	ORPHA:480864
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Small for gestational age, Hypertrophic cardiomyopathy	OMIM:615917
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Oligohydramnios, Hydronephrosis,...	ORPHA:1834
Hsd10 Disease	Chronic lactic acidosis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine pro...	ORPHA:391417
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Mitochondrial Complex I Deficiency, Nuclear Type 32	Metabolic acidosis, Increased circulating lactate concentration, Hyponatremia, Failure to thrive,...	OMIM:618252
Primary Hyperoxaluria Type 3	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ...	ORPHA:93600
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Arrhythmia, Abnormal left...	OMIM:540000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Hypocalcemia, Hypoproteinemia, Lymphedema, Ascites, Hydronephrosis, Micropenis, T...	OMIM:235255
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Feingold Syndrome Type 1	Abnormality of the kidney, Interrupted aortic arch, Vesicoureteral reflux, Tricuspid stenosis, Ne...	ORPHA:391641
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis	OMIM:618950
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Lactic acidosis, Failure to thrive, Hypertrophic cardiomyopathy	OMIM:615440
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol	OMIM:229700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Lactic acidosis, Failure to thrive, Aminoaciduria, Ketonuria	OMIM:614520
Hereditary Fructose Intolerance	Hypermagnesemia, Metabolic acidosis, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Ren...	ORPHA:469
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Hyperammonemia, Lactic acidosis, Elevated circulating creatine kinase concentration, Increased ci...	OMIM:618416
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Erythroderma, Failure to thrive, Hydronephrosis, Elevated 8(9)-cholestenol, Edema...	OMIM:302960
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Thoracic aortic aneurysm, Anuria, Fetal ...	OMIM:619351
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Palpebral edema, Ureteral duplication, Recurrent urinary tract infecti...	ORPHA:2036
Multiple System Atrophy, Parkinsonian Type	Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction...	ORPHA:98933
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Lactic acidosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Ce...	OMIM:611126
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Dicarboxylic aciduria, Hyperalaninemia, Hypertrophic cardiomyopathy, In...	OMIM:620646
Pde4D Haploinsufficiency Syndrome	Hypotension, Hypospadias	ORPHA:439822
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Malar rash, Vasculitis, Nephrotic syndrome, Nephritis	OMIM:603909
Congenital Short Bowel Syndrome	Failure to thrive, Metabolic acidosis, Dehydration	OMIM:615237
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chron...	OMIM:208500
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula...	ORPHA:860
Noonan Syndrome 4	Large for gestational age, Polyhydramnios, Ureteral duplication, Hypertrophic cardiomyopathy, Pul...	OMIM:610733
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618225
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased circulating lactate concentration	OMIM:609060
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Oligohydramnios, Hydronephrosis,...	ORPHA:2973
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Aneurysm Of Sinus Of Valsalva	Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Dilatation of the sinus o...	ORPHA:1054
Combined Oxidative Phosphorylation Deficiency 37	3-Methylglutaconic aciduria, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Incre...	OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 37	Lactic acidosis, Hypospadias, Bradycardia, Pulmonary arterial hypertension, Increased circulating...	OMIM:619272
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension, Pseudohypoaldosteronism	OMIM:145260
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Arthritis, Hypertensive crisis, Pulmonary arterial hypertension, Telang...	ORPHA:220393
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:203740
Aromatic L-Amino Acid Decarboxylase Deficiency	Athetosis, Hypotension, Choreoathetosis	OMIM:608643
ERI1-related disease	Vesicoureteral reflux, Decreased body weight, Tricuspid regurgitation, Pulmonary arterial hyperte...	OMIM:608739
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis	ORPHA:2083
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Barth Syndrome	3-Methylglutaconic aciduria, Congestive heart failure, Intermittent lactic acidemia, Tricuspid re...	OMIM:302060
Erythrocytosis, Familial, 5	Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin...	OMIM:617907
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Glomerulopathy, Myocardial infarction, Hematuria, Myositis...	ORPHA:183
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Hypoplastic aortic arch, Polycystic kidney ...	ORPHA:314588
Congenital Fibrinogen Deficiency	Tachycardia, Micropenis, Internal hemorrhage	ORPHA:335
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Calcium nephrolithiasis, Ventricular ...	ORPHA:36913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Hydronephrosis, Megacystis, Oligohydramnios	OMIM:619431
Trisomy 13	Hydrops fetalis, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, ...	ORPHA:3378
Hyperkalemic Periodic Paralysis	Hyperkalemia, Congestive heart failure, Hypokalemia, Elevated circulating creatine kinase concent...	ORPHA:682
Indifference To Pain, Congenital, Autosomal Recessive	Urinary incontinence, Abnormal nerve conduction velocity, Abnormal autonomic nervous system physi...	OMIM:243000
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hyperuricemia, Hypotension, Hyponatremia, Hypercalcemia	ORPHA:199299
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Erythrocytosis, Familial, 4	Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin...	OMIM:611783
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Trisomy 1Q	Hydrops fetalis, Polyhydramnios, Congenital megaureter, Increased nuchal translucency, Hydronephr...	ORPHA:261344
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Vesicoureteral reflux, Lymphedema, Pleural effusion, Pericardial effusion, Erysip...	OMIM:235510
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Lactic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Glycos...	OMIM:616539
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension	ORPHA:757
Acute Monoblastic/Monocytic Leukemia	Oliguria, Central hypothyroidism, Weight loss, Periorbital edema	ORPHA:514
Triokinase And Fmn Cyclase Deficiency Syndrome	Lactic acidosis, Pancreatitis, Reduced systolic function, Failure to thrive in infancy, Hypoalbum...	OMIM:618805
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Metabolic acidosis, Chronic pancreatitis, Increased urin...	OMIM:307030
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Myocarditis, Pneumonia, Pancreatitis, Hypocalcemia, Acute coli...	ORPHA:544482
Even-Plus Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Atopic dermatitis, Renal hypoplasia, O...	OMIM:616854
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Predominantly lower limb lymphedema, Recurrent urinary tract infections, Conjunct...	ORPHA:33001
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Hypotriglyceridemia, Decreased ser...	OMIM:618885
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Tarp Syndrome	Horseshoe kidney, Failure to thrive, Hydronephrosis, Neonatal death, Oligohydramnios, Subdural he...	OMIM:311900
Poliomyelitis	Hypovolemic shock, Inability to walk, Hypertension, Hypotension	ORPHA:2912
Osteopetrosis With Renal Tubular Acidosis	Metabolic acidosis, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevated circulating c...	ORPHA:2785
Kury-Isidor Syndrome	Hydronephrosis, Recurrent otitis media	OMIM:619762
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia, Oli...	OMIM:236500
Tempi Syndrome	Abnormality of the kidney, Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiec...	ORPHA:284227
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Lactic acidosis, Elevated lactate:pyruvate ratio, Severe lactic acidosis, Increased circulating l...	OMIM:616111
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao...	OMIM:301111
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary c...	OMIM:219730
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Mitochondrial Complex I Deficiency, Nuclear Type 34	Lactic acidosis, Metabolic acidosis	OMIM:618776
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Pulmon...	ORPHA:261494
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype...	OMIM:211900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Lactic acidosis, Renal tubular acidosis, Myoglobinuria, In...	ORPHA:264580
Mitochondrial Complex I Deficiency, Nuclear Type 5	Failure to thrive, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:618226
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis, Failure to thrive	OMIM:619179
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Inability to walk, Heavy proteinuria, Tricuspid regurg...	ORPHA:505248
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Hydronephrosis, Micropenis	ORPHA:364028
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Periodontitis, Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate al...	OMIM:619269
Tularemia	Tachycardia	ORPHA:3392
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Isolated Complex I Deficiency	Lactic acidosis, Proximal tubulopathy, Increased serum pyruvate, Hypertrophic cardiomyopathy, Fai...	ORPHA:2609
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Pelvic kidney, Pulmonary artery atresia, Pulmonic ...	OMIM:601186
Multiple System Atrophy, Cerebellar Type	Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction...	ORPHA:227510
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ...	ORPHA:97289
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis, Urethral valve, Hydronep...	ORPHA:261290
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten...	OMIM:615962
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest	ORPHA:49827
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Ascites, Hydronephrosis...	ORPHA:1655
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation...	OMIM:615745
Combined Oxidative Phosphorylation Deficiency 48	Failure to thrive, Lactic acidosis, Increased circulating lactate concentration	OMIM:619012
Mitochondrial Complex I Deficiency, Nuclear Type 7	Failure to thrive, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618229
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Lactic acidosis, Generalized aminoaciduria, Hyperbilirubinemia, Ascites, Portal hypertension, Fai...	OMIM:251880
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Leigh Syndrome	3-Methylglutaconic aciduria, Congestive heart failure, Lactic acidosis, Generalized aminoaciduria...	ORPHA:506
Biliary, Renal, Neurologic, And Skeletal Syndrome	Ascites, Left-to-right shunt, Dark urine, Edema, Elevated circulating creatinine concentration, S...	OMIM:619534
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Erythermalgia, Primary	Palpitations, Hyperhidrosis, Abnormal autonomic nervous system physiology, Xerostomia	OMIM:133020
Hennekam-Beemer Syndrome	Hypotension, Telangiectasia of the skin, Arrhythmia	ORPHA:2135
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Mitochondrial Complex I Deficiency, Nuclear Type 22	Lactic acidosis, Elevated lactate:pyruvate ratio, Hypertrophic cardiomyopathy	OMIM:618243
Orofaciodigital Syndrome Xvii	Renal hypoplasia, Decreased body weight, Micropenis	OMIM:617926
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Lactic acidosis, Nephrocalcinosis, Cardiomyopathy, Aminoaciduria	OMIM:616084
Combined Oxidative Phosphorylation Deficiency 4	Hyperammonemia, Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration	OMIM:610678
Zellweger Syndrome	Hypospadias, Failure to thrive, Primary adrenal insufficiency, Hydronephrosis, Multicystic kidney...	ORPHA:912
Congenital Disorder Of Glycosylation, Type Iie	Congestive heart failure, Neurogenic bladder, Elevated circulating creatine kinase concentration,...	OMIM:608779
Vacterl/Vater Association	Polyhydramnios, Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis,...	ORPHA:887
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia, Lactic acidosis	OMIM:614111
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Hypertension, Elevated circulating C-reactive prot...	ORPHA:79126
Degcags Syndrome	Abnormal renal medulla morphology, Hypospadias, Recurrent urinary tract infections, Hyperbilirubi...	OMIM:619488
Alexander Disease	Hypertension, Hypotension, Gait disturbance, Ataxia, Sudden cardiac death	ORPHA:58
Congenital Myopathy 17	Polyhydramnios, Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Failure to ...	OMIM:618975
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Reti...	ORPHA:99827
Amish Lethal Microcephaly	Metabolic acidosis, Organic aciduria	ORPHA:99742
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lactic acidosis, Increased serum pyruvate, Hyperalaninemia, Increased circulating lactate concent...	OMIM:617668
Lassa Fever	Oliguria, Conjunctivitis, Facial edema, Shock	ORPHA:99824
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Polyhydramnios, Hypoplasia of penis	ORPHA:2256
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,...	OMIM:619743
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Urinary incontinence, Hyperalaninemia, Increased circulating lac...	OMIM:301025
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Leptospirosis	Hyperproteinemia, Acute kidney injury, Hypotension, Retinal hemorrhage, Pericarditis, Cellular ur...	ORPHA:509
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Cachexia, Abnormal blood ion concentration, Psoriasiform der...	ORPHA:37042
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Lactic acidosis, Metabolic acidosis, Aortic regurgitation, Reduced left ventricular ejection frac...	OMIM:616501
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney	OMIM:266810
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Lactic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate co...	OMIM:613561
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Metabolic acidosis, Increased circulating lactate concentration	OMIM:617290
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Hardikar Syndrome	Hematemesis, Decreased serum insulin-like growth factor 1, Hydroureter, Cholangitis, Recurrent ur...	OMIM:301068
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Lactic acidosis, Hyperalaninemia, Pulmonary arterial hypertension, Increased circulating lactate ...	OMIM:619059
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Renal cell carcinoma, Renal cyst, Hypothyroidism, Precocious pube...	OMIM:613254
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concen...	ORPHA:98855
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Hypotension, Tachycardia	ORPHA:98849
Ogden Syndrome	Pulmonary edema, Enlarged kidney, Recurrent otitis media, Maternal diabetes, Polycystic kidney dy...	OMIM:300855
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Zttk Syndrome	Polyuria, Aortic regurgitation, Unilateral renal agenesis, Failure to thrive, Horseshoe kidney	OMIM:617140
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ...	ORPHA:75565
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Mitochondrial Complex I Deficiency, Nuclear Type 25	Failure to thrive, Lactic acidosis	OMIM:618246
Carney Triad	Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia	ORPHA:139411
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Aortic regurgitation, Failure to thrive, Hydronephrosis, Mitral regurgitation, Hy...	ORPHA:261349
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Increased body weig...	ORPHA:79240
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Elevated circulating long chain fatty acid concentration, Failur...	OMIM:214100
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal dysplasia, Hypertension, Renal...	OMIM:266920
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Neonata...	OMIM:618810
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Failure to thrive in infancy, Renal insuf...	OMIM:611209
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Pelvic kidney, Rena...	ORPHA:464311
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Hypertension, Nephrolithiasis, Pituitary adenoma, Increased circulating ACTH level	OMIM:219090
Mitochondrial Complex I Deficiency, Nuclear Type 16	Failure to thrive, Lactic acidosis, Adrenal insufficiency	OMIM:618238
Micro Syndrome	Delayed puberty, Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis	ORPHA:2510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Large for gestational age, Ureteral duplication, Polyhydramnios, Vesicoureteral reflux, Ureteral ...	OMIM:614080
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Cardiomyopathy, Renal cyst, Increased circulating lactate concentrat...	ORPHA:445038
3C Syndrome	Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Pulmonic stenosis, Aortic valve stenosis, H...	ORPHA:7
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitar...	ORPHA:91351
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Secondary hyperaldosteronism, Intestinal bleeding, Lymphopenia, Hypoch...	ORPHA:90363
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Hydronephrosis, Congenital megaureter	ORPHA:2437
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Cardiomyopathy, Episodic metabolic acidosis, Ethylmalonic aciduria	OMIM:201470
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Bradycardia, Increased circulating lactate concentration	OMIM:614654
Lead Poisoning	Delayed puberty, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration...	ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Lactic acidosis, Aminoaciduria, Increased circulating lactat...	OMIM:614946
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glandular hypospadias, Facial palsy, Hypertensive crisis,...	ORPHA:1358
Double Outlet Right Ventricle	Pulmonic stenosis, Tachycardia, Hypocalcemia, Heart murmur	ORPHA:3426
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614495
Eisenmenger Syndrome	Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave...	ORPHA:97214
Bresek Syndrome	Vesicoureteral reflux, Hypoplasia of the bladder, Renal hypoplasia, Neonatal death, Renal dysplasia	ORPHA:85284
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Renal duplication, Hydr...	ORPHA:96169
Multiple System Atrophy 1, Susceptibility To	Urinary incontinence, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Urin...	OMIM:146500
Penile Agenesis	Hydroureter, Maternal diabetes, Abnormality of the bladder, Bilateral renal agenesis, Absent peni...	ORPHA:49
Cystinuria	Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concen...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concen...	ORPHA:98853
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, C...	OMIM:620089
Harlequin Ichthyosis	Erythroderma, Dehydration, Sudden cardiac death	ORPHA:457
Nelson Syndrome	Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, Secondary hypercortisolism...	ORPHA:199244
Combined Oxidative Phosphorylation Deficiency 42	Lactic acidosis, Cardiomyopathy, Elevated circulating creatine kinase concentration, Neonatal dea...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Lactic acidosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy,...	OMIM:618835
Mitochondrial Complex I Deficiency, Nuclear Type 14	Lactic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate concentration	OMIM:618236
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Renal artery stenosis, Generali...	OMIM:208000
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glomerular basemen...	ORPHA:2614
Fryns Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Hypospadias, Vesicoureteral reflux, Abnormal aor...	ORPHA:2059
Interstitial Lung And Liver Disease	Lactic acidosis, Intraalveolar phospholipid accumulation, Hypothyroidism, Hyperammonemia, Failure...	OMIM:615486
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Mungan Syndrome	Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Tricuspid regurgitation	OMIM:611376
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Hydroureter, Hydrops fetali...	OMIM:212093
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula...	OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal...	OMIM:219080
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Tricuspid regurgitation, Elevated hemog...	OMIM:619127
Visceral Myopathy 1	Polyhydramnios, Pancreatitis, Vesicoureteral reflux, Hydronephrosis, Megacystis, Urinary retention	OMIM:155310
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Methylmalonic acidemia,...	ORPHA:17
Fatal Familial Insomnia	Hyperhidrosis, Urinary retention, Abnormal autonomic nervous system physiology	OMIM:600072
Cystic Fibrosis	Pancreatitis, Hypercalciuria, Dehydration, Failure to thrive, Recurrent pneumonia, Bronchiectasis...	OMIM:219700
Mayer-Rokitansky-Kuster-Hauser Syndrome	Reduced renal corticomedullary differentiation, Multicystic kidney dysplasia, Renal cyst, Renal m...	OMIM:277000
Vipoma	Increased circulating gonadotropin level, Hypokalemia, Adrenocortical adenoma, Dehydration, Ascit...	ORPHA:97282
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop...	OMIM:146510
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Lactic acidosis	OMIM:619065
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614496
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct...	OMIM:140000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Ataxia, Gait ataxia	OMIM:618321
Coenzyme Q10 Deficiency, Primary, 4	Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentration	OMIM:612016
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Valvular pulmonary stenosis, Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, C...	OMIM:300707
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Vesicoureteral reflux, Renal cyst, Tricuspid regurgitation, Renal hypoplasi...	OMIM:618460
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Mirizzi Syndrome	Tachycardia, Hyperbilirubinemia, Dark urine	ORPHA:521219
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concen...	ORPHA:98863
Koolen-De Vries Syndrome	Aortic root aneurysm, Recurrent urinary tract infections, Vesicoureteral reflux, Eczematoid derma...	OMIM:610443
Carpenter Syndrome 1	Hydroureter, Pulmonic stenosis, Precocious puberty, Obesity, Hydronephrosis	OMIM:201000
Liver Disease, Severe Congenital	Hypoproteinemia, Ascites, Hyperammonemia, Metabolic acidosis, Hypospadias, Hypocalcemia, Chronic ...	OMIM:619991
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Decreased sweating due to autonomic dysfunction, Autonomic erectile dysfunction, Orthostatic hypo...	OMIM:169500
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Palpitations, Hypotension, Heart murmur	ORPHA:100079
Hyperthyroidism, Nonautoimmune	Tachycardia, Increased circulating thyroglobulin concentration	OMIM:609152
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Vesicoureteral reflux, Oligohydramnios, Obesity, Hydronephrosis, Heart murmur, Mic...	OMIM:618653
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Hydronephrosis, Hypospadias, Pulmonary arterial hypertension	OMIM:616449
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Chromosome 2P16.1-P15 Deletion Syndrome	Hydronephrosis, Micropenis, Hypogonadism	OMIM:612513
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney...	ORPHA:1225
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Failure to thrive, Hyd...	ORPHA:2473
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Congenital Tufting Enteropathy	Arthritis, Dehydration, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Ascending tubular aorta aneurysm, Vesicoureteral reflux, Pleural eff...	ORPHA:453499
Mosaic Trisomy 9	Hydrops fetalis, Polyhydramnios, Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal...	ORPHA:99776
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Pelvic kidney, Anterior pituitary h...	ORPHA:464306
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa...	ORPHA:488627
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Si...	ORPHA:449427
Adams-Oliver Syndrome 6	Renal hypoplasia, Portal hypertension, Tricuspid regurgitation	OMIM:616589
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis	OMIM:613001
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Hypothyroidism, Renal hypoplasia, Telangiectasia of the skin, Renal dysplasi...	ORPHA:85321
Baraitser-Winter Cerebrofrontofacial Syndrome	Palpebral edema, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, ...	ORPHA:2995
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney, Pulmonic stenosis	OMIM:212780
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia	OMIM:614498
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Failure to thrive,...	OMIM:615838
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Lymphedema, Pulmonic stenosis, Hydronephrosis	OMIM:616737
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Lactic acidosis, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Metabolic acidosis, Renal tubular acidosis, Failure to thrive, Hematochez...	OMIM:619575
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Multiple bladder diverticula, Abnormal cardiac ventricular function, Re...	ORPHA:90349
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Failure to thrive, Hydronephrosis, Vesicoureteral reflux	ORPHA:250989
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Mitochondrial Complex I Deficiency, Nuclear Type 8	Lactic acidosis, Pancreatitis, Increased circulating lactate concentration	OMIM:618230
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis, Hypertrophic cardiomyopathy	ORPHA:1369
Lysinuric Protein Intolerance	Oroticaciduria, Pulmonary hemorrhage, Pancreatitis, Intraalveolar phospholipid accumulation, Incr...	OMIM:222700
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lactic acidosis, Elevated lactate:pyruvate ratio, Hypospadias, Concentric hypertrophic cardiomyop...	OMIM:252010
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Acute Liver Failure	Acute kidney injury, Gastrointestinal hemorrhage, Hypotension, Hyperammonemia, Ataxia, Intracrani...	ORPHA:90062
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis	ORPHA:568
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc...	OMIM:614227
Rh Deficiency Syndrome	Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hyperalaninemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy,...	OMIM:615418
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto...	OMIM:607323
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia	OMIM:276950
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Lactic acidosis, Bradycardia, Elevated circulating creatine kinase ...	OMIM:618775
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Hypogonadotropic hypogonadism	ORPHA:939
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma, Hydronephrosis	ORPHA:35173
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hypotension	ORPHA:293978
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis, Oligohydramnios, Telangiectasia	ORPHA:247262
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Elevated circulati...	OMIM:614388
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Metabolic acidosis, Increased circulating lactate concentration	ORPHA:88639
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Abnormal renal morphology, Vesicoureteral ...	OMIM:609053
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic h...	OMIM:105210
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria	ORPHA:35858
Stromme Syndrome	Stillbirth, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Unilateral renal agenesis, Adrenal hypoplasia, Thyroid hypoplasia, Hydronephrosis, El...	OMIM:308050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Panniculitis, Recurrent urinary tract infections, Hypoplasia of the thymus, Pul...	OMIM:612541
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Interrupted aortic arch, Hydronephrosis, Intracran...	ORPHA:163979
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Lactic acidosis	ORPHA:2598
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Hydronephrosis, Pulmonary arterial hypertension, Vesicoureteral reflux	OMIM:620663
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Failure to thrive, Ureteropelvic junction obstruction, Hydronep...	ORPHA:444072
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R...	OMIM:115197
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased circulating lactate concentration	ORPHA:139485
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology, Urinary bladder sphincter dysfunction	ORPHA:363722
15Q Overgrowth Syndrome	Abnormal renal morphology, Pulmonary arterial hypertension, Tricuspid regurgitation, Hydronephros...	ORPHA:314585
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Pulmonic stenosis, Hydronephrosis, Horseshoe kidney	OMIM:115470
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Neurogenic bladder, Abnormal autonomic nervous system physiology	ORPHA:466934
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Precoci...	ORPHA:2322
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Cornelia De Lange Syndrome 1	Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ...	OMIM:122470
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Decreased response to growth hormone stimulation test	OMIM:617784
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Pulmonary arterial hypertension, Renal hypoplasi...	OMIM:618454
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased circulating lactate concentration	OMIM:618239
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Hydronephrosis	ORPHA:101000
12Q14 Microdeletion Syndrome	Ectopic kidney, Failure to thrive, Renal hypoplasia, Diabetes mellitus, Horseshoe kidney	ORPHA:94063
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Increased blood pressure, Premature coronary artery ather...	ORPHA:90324
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure	OMIM:605676
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, D...	OMIM:618838
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Edema, Pedal edema	OMIM:236700
Au-Kline Syndrome	Aortic root aneurysm, Hypertension, Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Chr...	OMIM:616580
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Prolonged QT interval, Hypoplasia of penis, Elevated circulating glu...	ORPHA:66634
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ...	ORPHA:209905
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Hydronephrosis	ORPHA:254528
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Precocious puberty, Hydronephrosis, Micropenis	ORPHA:96092
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Recurrent skin infections...	ORPHA:2953
Biotinidase Deficiency	Seborrheic dermatitis, Skin rash, Organic aciduria, Metabolic ketoacidosis, Hyperammonemia, Conju...	OMIM:253260
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr...	OMIM:614527
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Hypokalemia, Supraventricular arrhythmia, Hypertension, Hypotension, Ve...	ORPHA:91347
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Lactic acidosis, Increased circulating lactate concentration, Failure to thrive,...	OMIM:600462
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca, Tubulointerstitial nephritis	OMIM:270150
Holoprosencephaly 3	Central diabetes insipidus, Hydronephrosis	OMIM:142945
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Mildly elevated creatine kinase, Severe lactic acidosis, Decreased circulating carnitine concentr...	ORPHA:254864
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Renal hypoplasia, Abnormality of the anterior pituitary, Posterior pit...	ORPHA:75389
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Metabolic acidosis	OMIM:619445
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Micropenis	OMIM:617798
Mitochondrial Dna Depletion Syndrome 17	Hyperammonemia, Low plasma citrulline, Acidosis	OMIM:618567
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Neurogenic bladder, Abnormal autonomic nervous system physiology	OMIM:616683
Mccune-Albright Syndrome	Pancreatitis, Increased serum testosterone level, Renal phosphate wasting, Pancytopenia, Precocio...	ORPHA:562
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Ventricular...	OMIM:620519
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Oligohydramnios, Renal hypoplasia	OMIM:616258
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lactic acidosis, Elevated lactate:pyruvate ratio, Increased serum pyruvate, Cardiac arrest, Hyper...	OMIM:604377
Mitochondrial Neurogastrointestinal Encephalomyopathy	Lactic acidosis, Cachexia, Hyperalaninemia, Hypergonadotropic hypogonadism, Weight loss, Hypogona...	ORPHA:298
Succinic Acidemia	Lactic acidosis	OMIM:600335
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Matthew-Wood Syndrome	Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Horseshoe kidney	ORPHA:2470
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Palpebral edema, Unilateral renal agenesis, Hypertension, Supraventricu...	OMIM:181270
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Pierson Syndrome	Hypoproteinemia, Hypertension, Retinal hemorrhage, Nephrotic syndrome, Diffuse mesangial sclerosi...	OMIM:609049
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, H...	ORPHA:110
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Monosomy 22Q13.3	Palpebral edema, Vesicoureteral reflux, Lymphedema, Obesity, Hydronephrosis, Recurrent pyelonephr...	ORPHA:48652
Mosaic Trisomy 8	Hydronephrosis, Vesicoureteral reflux	ORPHA:96061
Teebi-Shaltout Syndrome	Aortic valve stenosis, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Prolactinoma	Hypotension	ORPHA:2965
Craniofacioskeletal Syndrome	Hypocalcemia, Hydronephrosis, Hypospadias, Interrupted aortic arch	OMIM:300712
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Polyhydramnios, Pelvic kidney, Vesicourete...	OMIM:603467
Intermediate Uveitis	Vasculitis, Optic neuritis, Cystoid macular edema, Anterior uveitis, Psoriasiform dermatitis, Mac...	ORPHA:279914
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Abnormality of thyroid physiology, Hydronephrosis	OMIM:300968
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Unilateral renal agenesis, Ectopic kidney, Truncal obes...	OMIM:616541
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Atopic dermatitis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Failure to thr...	OMIM:115150
Graft Versus Host Disease	Tachycardia, Hyperbilirubinemia	ORPHA:39812
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Hypertrophic cardiomyopathy, Increased circulating lactate conce...	OMIM:252011
Eec Syndrome	Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Hypospadias, Ant...	ORPHA:1896
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Or...	OMIM:304150
Cardiofaciocutaneous Syndrome	Lymphedema, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, Failure to thrive in ...	ORPHA:1340
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr...	ORPHA:79644
Raine Syndrome	Hydronephrosis, Hydroureter, Hypophosphatemia, Neonatal death	OMIM:259775
White-Kernohan Syndrome	Recurrent otitis media, Hydroureter, Hypothyroidism, Obesity, Hydronephrosis, Horseshoe kidney	OMIM:619426
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Aortopulmonary collateral arteries	OMIM:617557
Spinal Cord Injury	Urinary retention, Abnormal autonomic nervous system physiology, Urinary bladder sphincter dysfun...	ORPHA:90058
Listeriosis	Myocarditis, Acute kidney injury, Congestive heart failure, Arteritis, Pericarditis, Pustule, Cho...	ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618241
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Adrenal hypoplasia, Ascites, Hypoplasia of the thymus, Hydronephros...	OMIM:613177
Distal Deletion 12Q	Maturity-onset diabetes of the young, Late onset atopic dermatitis, Ectopic kidney, Polycystic ki...	ORPHA:96149
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Recurrent urinary tract infections, Urinary retention, Abnormal auditory...	ORPHA:99027
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Lactic acidosis, Hypospadias, Hypertension, Hypertrophic cardiomyopathy, Increas...	OMIM:220111
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Hypertension, Adrenal hyperplasia, Precocious pu...	ORPHA:786
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Polyhydramnios, Hydroureter, Hypospadias, Right-to-left shunt, Hypoplast...	OMIM:265380
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hydronephrosis, Pulmonary arterial hypertension	ORPHA:210122
Smith-Lemli-Opitz Syndrome	Hypertension, Hypocholesterolemia, Hypospadias, Failure to thrive, Micropenis, Recurrent otitis m...	OMIM:270400
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections, Hydronephrosi...	ORPHA:847
Netherton Syndrome	Chronic rhinitis, Eczematoid dermatitis, Angioedema, Failure to thrive, Hypernatremic dehydration...	OMIM:256500
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys	OMIM:617914
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Hydroureter, D...	OMIM:604292
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Nephrolithiasis, Premature ventricular contraction	OMIM:620504
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Atypical Rett Syndrome	Abnormal autonomic nervous system physiology	ORPHA:3095
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Pulmonary arterial hypertension, Recurrent pneumonia, Hydronephrosis, Male urethral ...	ORPHA:464738
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Oligohydramnios, Urethral atresia	OMIM:271520
Autosomal Recessive Hypophosphatemic Rickets	Hypophosphatemic rickets, Renal phosphate wasting, Hyperphosphaturia, Enthesitis, Abnormality of ...	ORPHA:289176
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Multiple glomerular cysts, Hyperalaninemia, Hypertrophic cardio...	ORPHA:255210
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Vesicoureteral reflux, Hypospadias, Renal atrophy	OMIM:618659
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Glucagonoma, Neuroendocrine neoplasm, Elevated circulating parathyro...	ORPHA:913
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Melnick-Needles Syndrome	Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Ureteral stenosis, Failure t...	OMIM:309350
Alg9-Cdg	Enlarged kidney, Hydrops fetalis, Hypoplasia of the ovary, Tricuspid regurgitation, Abnormal rena...	ORPHA:79328
Dend Syndrome	Dehydration, Elevated hemoglobin A1c	ORPHA:79134
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Dehydration, Failure to thrive, Cardiac conduction abnormality, Arrhythmia, Abnor...	ORPHA:2131
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis	ORPHA:459061
Grange Syndrome	Decreased body weight, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension...	OMIM:602531
Trisomy 18	Cachexia, Hydronephrosis, Oligohydramnios, Abnormality of the upper urinary tract	ORPHA:3380
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Metabolic acidosis, Elevated circulating C-reactive protein concentration, ...	OMIM:619573
Digeorge Syndrome	Right aortic arch with mirror image branching, Recurrent otitis media, Unilateral renal agenesis,...	OMIM:188400
Otopalatodigital Syndrome Type 2	Failure to thrive, Ureteral obstruction, Hydronephrosis, Hypospadias	ORPHA:90652
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Renal hypoplasia, Vesicoureteral reflux, Mitral stenosis	OMIM:617660
Opitz Gbbb Syndrome	Hypospadias, Aortic root aneurysm, Thyroglossal cyst, Vesicoureteral reflux, Coarctation of aorta...	ORPHA:2745
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hydronephrosis, Micropenis, Hypospadias	OMIM:301040
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lactic acidosis, Hyperglycinemia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:614299
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Leigh Syndrome	Failure to thrive, Lactic acidosis, Increased circulating lactate concentration	OMIM:256000
Machado-Joseph Disease	Abnormal autonomic nervous system physiology, Urinary bladder sphincter dysfunction	OMIM:109150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydromyelia, Elevated circulating creatine kinase concentration, Hydronephrosis, Micropenis, Mult...	OMIM:615287
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Recurrent otitis media, Hypospadias, Aorti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Hypospadias, Aorti...	ORPHA:363958
7Q11.23 Microduplication Syndrome	Chronic otitis media, Unilateral renal agenesis, Hypospadias, Aortic aneurysm, Enuresis, Aortic v...	ORPHA:96121
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Microcephaly, Amish Type	Failure to thrive, Lactic acidosis	OMIM:607196
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Mccune-Albright Syndrome	Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce...	OMIM:174800
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Hypertension, Hyperlipidemia, Precocious atherosclerosis, Peripheral ...	ORPHA:391665
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Hydronephrosis, Telangiectasia of the skin, Multicystic kidney dysplasi...	ORPHA:2092
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ...	ORPHA:90790
Fryns Syndrome	Stillbirth, Large for gestational age, Ureteral duplication, Polyhydramnios, Hypospadias, Chyloth...	OMIM:229850
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Autosomal Dominant Cutis Laxa	Congestive heart failure, Unilateral renal agenesis, Aortic regurgitation, Aortic aneurysm, Coarc...	ORPHA:90348
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 42	Aggressive behavior, Limb hypertonia, Neurogenic bladder, Congenital hypothyroidism, Phonic tics,...	OMIM:616973
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Lactic acidosis, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyo...	ORPHA:444013
Nijmegen Breakage Syndrome	Recurrent otitis media, Recurrent urinary tract infections, Conjunctival telangiectasia, Sinusiti...	OMIM:251260
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory ...	OMIM:256800
Robinow Syndrome	Multicystic kidney dysplasia, Pulmonic stenosis, Coarctation of aorta, Hydronephrosis, Webbed pen...	ORPHA:97360
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	ORPHA:2886
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Difficulty walking, Increased circulating NT-proBNP concentration...	OMIM:232300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Hydroureter, D...	OMIM:129900
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Orofaciodigital Syndrome Type 1	Chronic otitis media, Renal insufficiency, Hypertension, Hydronephrosis, Proteinuria, Multicystic...	ORPHA:2750
Plague	Hematemesis, Hypotension, Unsteady gait, Arrhythmia, Tachycardia	ORPHA:707
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hypospadias, Abnormality of the endocrine system, Lymphedema, Hydronep...	ORPHA:487796
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Pulmonic...	ORPHA:353281
Vater/Vacterl Association	Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Failure to thrive, Hydronephr...	OMIM:192350
Biotinidase Deficiency	Skin rash, Organic aciduria, Metabolic ketoacidosis, Eczematoid dermatitis, Hyperammonemia, Conju...	ORPHA:79241
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hydroureter, Hypospadias, Prolonged QT interval, Hypoplasia of penis, Polyh...	ORPHA:373
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Hypogonadotropic hypogonadism, Delayed puberty, Autonomic bladder dysfunction	ORPHA:447896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Arrhythmia, Ventricular bigeminy, Left bundle...	OMIM:610131
Acute Transverse Myelitis	Urinary incontinence, Orthostatic hypotension, Hypertension, Abnormal autonomic nervous system ph...	ORPHA:139417
Combined Oxidative Phosphorylation Deficiency 3	Lactic acidosis, Elevated lactate:pyruvate ratio, Concentric hypertrophic cardiomyopathy, Elevate...	OMIM:610505
Trisomy 8P	Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Heart murmur, Peripheral pulmonary artery st...	ORPHA:264450
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys...	ORPHA:35069
Infantile Liver Failure Syndrome 1	Failure to thrive, Lactic acidosis	OMIM:615438
45,X/46,Xy Mixed Gonadal Dysgenesis	Epispadias, Abnormality of the kidney, Prolonged QT interval, Hypospadias, Penoscrotal hypospadia...	ORPHA:1772
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th...	OMIM:617666
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Precocious puberty, Coarcta...	ORPHA:2044
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Urinary incontinence, Abnormal autonomic nervous system physio...	ORPHA:247234
Mitochondrial Phosphate Carrier Deficiency	Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy	OMIM:610773
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cousin Syndrome	Hydronephrosis	OMIM:260660
Apert Syndrome	Chronic otitis media, Overriding aorta, Hydronephrosis, Acne	OMIM:101200
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena...	OMIM:258040
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology, Urinary urgency	OMIM:168600
Dietary Iron Overload Disease	Abnormal adrenal morphology, Congestive heart failure, Abnormal thyroid morphology, Diabetes mell...	ORPHA:139507
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis, Hyperuricemia	OMIM:150170
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Cardiomyopathy, Increased circulating lactate concentration	OMIM:617710
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Atrial fibrillation, Elevated circulating creatine ki...	ORPHA:254892
Lambert-Eaton Myasthenic Syndrome	Hypohidrosis, Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension d...	ORPHA:43393
Dubowitz Syndrome	Hydronephrosis, Hypoparathyroidism, Hypospadias, Eczematoid dermatitis	ORPHA:235
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Polyhydramnios, Hypospadias, Hypoplasia of penis, Increased nuchal tran...	ORPHA:818
Mesomelia-Synostoses Syndrome	Polyhydramnios, Hydronephrosis	OMIM:600383
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Cerebral edema, Hypertrophic cardiomyopathy, Increased circulating lactate conce...	OMIM:614462
Sarcoidosis	Nephrocalcinosis, Erythema nodosum, Diabetes insipidus, Abnormal cardiac ventricular function, Ne...	ORPHA:797
3Mc Syndrome 1	Conjunctival telangiectasia, Hydronephrosis	OMIM:257920
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,...	ORPHA:404443
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Ureteral stenosis, Failure to thrive, Hydronephrosis, Micropenis	OMIM:269150
Autoimmune Polyendocrinopathy Type 3	Central diabetes insipidus, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Anterior pi...	ORPHA:227982
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Aortic aneurysm, Vesicoureteral reflux, Increased nuchal translucency, Hypothyroidism, Hydronephr...	ORPHA:453504
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Decreased heart rate variability, Abnormal autonomic nervous system physio...	OMIM:209880
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Aortic aneurysm, Vesicoureteral reflux, Increased nuchal translucency, Hypothyroidism, Hydronephr...	ORPHA:352665
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ...	OMIM:609136
Autoimmune Polyendocrinopathy Type 4	Central diabetes insipidus, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Anterior pi...	ORPHA:227990
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Somatostatinoma	Gastrointestinal hemorrhage, Steatorrhea, Hypochromic microcytic anemia, Increased circulating go...	ORPHA:97283
Cushing Disease	Increased circulating ACTH level, Optic nerve compression, Hypertension, Lymphopenia, Leukocytosi...	ORPHA:96253
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Failure to t...	OMIM:102700
Johanson-Blizzard Syndrome	Hypospadias, Hypocalcemia, Primary hypothyroidism, Ascites, Portal hypertension, Increased VLDL c...	OMIM:243800
Sickle Cell Anemia	Ischemic stroke, Elevated circulating creatinine concentration, Pulmonary arterial hypertension, ...	ORPHA:232
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Inability to walk, Truncal ataxia, Tricuspid regu...	OMIM:620066
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Duplicated collecting system, Pulmonary artery stenosis, Ureteropelvic...	OMIM:280000
Schinzel-Giedion Syndrome	Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Central hypothyroidism, Hydr...	ORPHA:798
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Hypoplasia of penis, Abnormal aortic morphology, Hydronephrosis, Multicysti...	ORPHA:1507
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Nephrotic syndrome, Hydronephrosis, Recurrent skin...	OMIM:601776
1P36 Deletion Syndrome	Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Aortic arch aneurysm, Renal cyst, Hy...	ORPHA:1606
Jacobsen Syndrome	Eczematoid dermatitis, Aortic valve stenosis, Coarctation of aorta, Hydronephrosis, Multicystic k...	ORPHA:2308
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Lactic acidosis, Increased circulating lactate concentration	OMIM:613027
Glucagonoma	Gastrointestinal hemorrhage, Steatorrhea, Increased circulating gonadotropin level, Normochromic ...	ORPHA:97280
Vici Syndrome	Congestive heart failure, Chronic mucocutaneous candidiasis, Cardiomyopathy, Elevated circulating...	OMIM:242840
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertriglyceridemia, Decreased H...	ORPHA:280365
Okamoto Syndrome	Urinary incontinence, Aortic valve stenosis, Ureteropelvic junction obstruction, Hydronephrosis, ...	ORPHA:2729
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Myositis, Recurrent urinary tract infections, Arthritis, Pu...	ORPHA:3310
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Polyhydramnios, Hypospadias, Recurrent urinary tract infections, Vesic...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Polyhydramnios, Hypospadias, Recurrent urinary tract infections, Vesic...	ORPHA:353277
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary prolactin cell aden...	OMIM:131100
Chime Syndrome	Abnormality of the kidney, Hydronephrosis	ORPHA:3474
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Nephrolithiasis, Hydronephrosis, Renal duplication, Nephrocalcinosis, Right ventricu...	OMIM:268310
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of the ovary, Renal hypoplasia, Micropenis, Azotemia	OMIM:619321
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Abnormal autonomic nervous system physiology	ORPHA:171695
Syndromic Diarrhea	Abnormality of iron homeostasis, Gastritis, Aortic regurgitation, Polycystic kidney dysplasia, Hy...	ORPHA:84064
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Recurrent otitis med...	ORPHA:3455
Frontometaphyseal Dysplasia	Ureteral obstruction, Hydronephrosis, Urethral stenosis	ORPHA:1826
Charge Syndrome	Delayed puberty, Abnormality of the adrenal glands, Polyhydramnios, Anterior hypopituitarism, Int...	ORPHA:138
Hydrolethalus Syndrome 1	Stillbirth, Adrenal gland dysgenesis, Polyhydramnios, Hypospadias, Hydronephrosis	OMIM:236680
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Primary Sjögren Syndrome	Abnormality of the kidney, Keratoconjunctivitis sicca, Arteritis, Chronic active hepatitis, Myosi...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Lactic acidosis, Elevated circulating alpha-fetoprotein concentration, Increas...	OMIM:614924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Vesicoureteral reflux, Nephrolithiasis, Aspiration pneumonia...	ORPHA:438213
Charge Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Polyhydramnios, Hypoparat...	OMIM:214800
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Ureteropelvic junction obs...	ORPHA:506358
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Neonatal death	OMIM:618232
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Knobloch Syndrome 1	Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system	OMIM:267750
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Cheilitis, Hydroureter, Abnormality of the upper urinary tract, Episcl...	ORPHA:2273
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermat...	ORPHA:83617
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Keratoconjunctivitis sicca, Arthritis, Vesicoureteral reflux, Keratoc...	ORPHA:2363
Kabuki Syndrome 1	Recurrent otitis media, Premature thelarche, Congenital hypothyroidism, Coarctation of aorta, Ure...	OMIM:147920
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Lactic acidosis, Elevated circulating deoxyuridine concentration, Cachexia, Slender build, Weight...	OMIM:603041
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Exstrophy-Epispadias Complex	Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen...	ORPHA:322
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Hypospadias, Aortic isthmus hypoplasia, Premature thelarche, Failure to thrive, C...	OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Abnormal circulating calcium-phosphate regulating hormone concentratio...	ORPHA:2636
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Polyhydramnios, Anterior hypopituita...	ORPHA:709
Williams Syndrome	Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Hypertension...	ORPHA:904
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Recurrent urinary tract infections, Pulmonic stenos...	OMIM:616268
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Bradycardia, Increased circulating lactate concentration, Failure to...	OMIM:617248
Floating-Harbor Syndrome	Recurrent otitis media, Hypospadias, Glandular hypospadias, Atopic dermatitis, Coarctation of aor...	OMIM:136140
Doors Syndrome	Polyhydramnios, Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyperplasia, Hydronephro...	ORPHA:79500
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Decreased body weight	ORPHA:255138
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Lactic acidosis, Metabolic acidosis, Ascites, Osteomyelitis leading to amputation due to slow hea...	OMIM:256810
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Oligohydramnios, Dehydration	ORPHA:96191
Campomelic Dysplasia	Polyhydramnios, Hydronephrosis, Failure to thrive, Hypospadias	OMIM:114290
Osteogenesis Imperfecta, Type Vii	Hydronephrosis, Absent pulmonary artery	OMIM:610682
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena...	OMIM:619522
Rett Syndrome	Increased serum leptin, Abnormal autonomic nervous system physiology	ORPHA:778
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Metabolic acidosis, Bradycardia	ORPHA:70
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Ppoma	Gastrointestinal hemorrhage, Increased circulating gonadotropin level, Adrenocortical adenoma, Pr...	ORPHA:97278
Williams-Beuren Syndrome	Abnormal renal morphology, Hypertension, Pulmonic stenosis, Early onset of sexual maturation, Nep...	OMIM:194050
Grfoma	Gastrointestinal hemorrhage, Increased circulating gonadotropin level, Adrenocortical adenoma, Ph...	ORPHA:97261
Legius Syndrome	Nephrolithiasis, Pulmonic stenosis, Paroxysmal atrial tachycardia, Nephroblastoma, Male urethral ...	ORPHA:137605
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Patent urachus, Tachycardia, Micropenis	OMIM:618280
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hematochezia, Hypokalemia	OMIM:175500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydrops fetalis, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydro...	ORPHA:93271
Sotos Syndrome	Chronic otitis media, Abnormality of the kidney, Ureteral duplication, Hypospadias, Aortic aneury...	ORPHA:821
Tick-Borne Encephalitis	Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Facial palsy, Abno...	ORPHA:297
Stuve-Wiedemann Syndrome 1	Hyperhidrosis, Abnormal autonomic nervous system physiology, Pulmonary arterial hypertension	OMIM:601559
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Hypertrophic cardiomyopathy, Pulmonic stenos...	ORPHA:363700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Cerebral edema, Increased circulating lactate concentration	OMIM:617186
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Metabolic acidosis	OMIM:620423
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Xerostomia	ORPHA:1051
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Recurrent pneumonia, Hydronephrosis, Eczematoid dermatitis	OMIM:620330
Viss Syndrome	Pulmonary artery aneurysm, Epidural hemorrhage, Polyhydramnios, Abnormal branching pattern of the...	OMIM:619472
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Inability to walk, Falls, Atrial fibrillation, Supraventri...	ORPHA:273
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medu...	ORPHA:99889
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Keratoconjunctivitis sicca, Myositis, Thyroiditis, Tubulointerstitial nephritis,...	ORPHA:79078
Robinow Syndrome, Autosomal Dominant 1	Right ventricular outlet tract obstruction, Hydronephrosis, Micropenis, Renal duplication	OMIM:180700
Genitopatellar Syndrome	Polyhydramnios, Multicystic kidney dysplasia, Hypothyroidism, Hydronephrosis, Micropenis	OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Polyhydramnios, Hypospadias, Cardiomyopathy, Renal cyst, Pulmonic stenosis, Hydr...	OMIM:312870
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi...	OMIM:203500
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Hyperthyroidism, Sy...	OMIM:170390
Cranioectodermal Dysplasia 1	Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney dise...	OMIM:218330
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart valve physiology, Aortic regurgitation, Tachycardia	ORPHA:3384
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Cardiomyopathy, Increased circulating lactate concentration	ORPHA:572798
Peters-Plus Syndrome	Ureteral duplication, Polyhydramnios, Hypospadias, Decreased body weight, Pulmonic stenosis, Rena...	OMIM:261540
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Histiocytoid cardiomyopathy, Chordee, Arrhythmia, Micropenis, Junctional ectopic tac...	OMIM:309801
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Hyperpitui...	ORPHA:249
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cardiomyopathy, Abnormal circulating thyroid hormone concentration, Hydronephros...	ORPHA:480880
Coffin-Siris Syndrome 1	Hydroureter, Ectopic kidney, Hypospadias, Renal hypoplasia, Hydronephrosis	OMIM:135900
Nmda Receptor Encephalitis	Orthostatic tachycardia, Orthostatic hypotension, Abnormal sudomotor regulation, Neoplasm of the ...	ORPHA:217253
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Recurrent otitis media, Aortic aneurysm, Decreased body weight, Pulmon...	OMIM:616462
Marfan Syndrome	Congestive heart failure, Aortic regurgitation, Mitral regurgitation, Ventricular tachycardia, Ab...	ORPHA:558
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Atrial reentry tachycardia, Ascending tubular aorta aneurysm, Pulmonary art...	OMIM:270100
Focal Dermal Hypoplasia	Ureteral duplication, Hydronephrosis, Bifid ureter, Horseshoe kidney, Telangiectasia	OMIM:305600
Leprosy	Abnormal seventh cranial physiology, Abnormality of the adrenal glands, Abnormal autonomic nervou...	ORPHA:548
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Stillbirth, Hydronephrosis, Hypospadias	OMIM:304120
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic kidney dysplasia, Pelvic k...	ORPHA:261537
Mowat-Wilson Syndrome	Abnormality of the kidney, Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic kidney dysplasia, Pelvic k...	ORPHA:261552
Choreoacanthocytosis	Abnormal erythrocyte enzyme concentration or activity, Abnormal autonomic nervous system physiolo...	ORPHA:2388
Stüve-Wiedemann Syndrome	Abnormal autonomic nervous system physiology, Hypohidrosis, Hypothyroidism, Hyperhidrosis, Ectopi...	ORPHA:3206
Congenital Total Pulmonary Venous Return Anomaly	Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Ri...	ORPHA:99125
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Hypokalemia	OMIM:174900
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Epistaxis, Ray...	ORPHA:285
Marshall-Smith Syndrome	Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension	OMIM:602535
Carney Complex	Congestive heart failure, Thyroid carcinoma, Increased circulating insulin-like growth factor 1 c...	ORPHA:1359
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Hypertension, Transient ischemic attack, Internal hemorrhage, Renovascu...	ORPHA:286
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ren1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ren1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ren1^{Ren-1c Enhancer KO}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ren1^{Ren-1c Enhancer KO}	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ren1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ren1^{tm107149(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ren1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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