Gene: Agt MGI:87963

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

angiotensinogen (serpin peptidase inhibitor, clade A, member 8)

Synonyms:

Aogen, Serpina8, angiotensin precursor

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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.

Phenotype associated images not available

Human diseases caused by Agt 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 Agt (2 diseases)
Human diseases predicted to be associated with Agt (898 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypertension, Essential		Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated mean arterial pressure	OMIM:145500
Renal Tubular Dysgenesis		Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Hypotension	OMIM:267430

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

Disease	Matching phenotypes	Source
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Renal tubular atrophy, Hypotension, Hyperuricemia, Stage 5 chronic ...	OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca...	OMIM:613092
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:614196
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma...	ORPHA:2843
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hypertension, Renal atrophy, Multipl...	OMIM:620056
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Hyperkalemia, Renal salt wasting, Increased circulating ...	OMIM:610600
Hyperaldosteronism, Familial, Type I	Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level, Hypertension, Adre...	OMIM:103900
Nephronophthisis 1	Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:256100
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria...	ORPHA:97362
Nephronophthisis 18	Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hypertension...	OMIM:615862
Nephrotic Syndrome, Type 21	Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn...	OMIM:618594
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Short stature, Hypokalemia, Hypocalcemia, Increased circulating renin level, D...	OMIM:601198
Coenzyme Q10 Deficiency, Primary, 6	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr...	OMIM:614650
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc...	OMIM:610725
Nephrotic Syndrome, Type 4	Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme...	OMIM:256370
Late-Onset Familial Hypoaldosteronism	Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ...	ORPHA:556037
Hypercalcemia, Infantile, 1	Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin...	OMIM:143880
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Decreased circulating aldosterone level, Hyperkalemia, Renal salt wasting, Increased...	OMIM:203400
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Nephrotic Syndrome, Type 11	Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn...	OMIM:616730
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot...	OMIM:616892
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Lcat Deficiency	Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Atherosclerosis, Premat...	ORPHA:650
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri...	OMIM:616963
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Nephronophthisis 2	Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Hypertens...	OMIM:602088
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome	OMIM:249660
Gitelman Syndrome	Hypotension, Rhabdomyolysis, Hypokalemia, Nocturia, Increased circulating renin level, Ataxia, Fa...	OMIM:263800
Idiopathic Steroid-Resistant Nephrotic Syndrome	Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin...	ORPHA:567548
Tubulointerstitial Nephritis With Uveitis	Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat...	OMIM:607665
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat...	OMIM:617610
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr...	ORPHA:2260
Early-Onset Familial Hypoaldosteronism	Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ...	ORPHA:556030
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin...	OMIM:161900
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren...	OMIM:177735
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener...	OMIM:613388
Nephronophthisis 3	Renal tubular atrophy, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary c...	OMIM:604387
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu...	OMIM:603860
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Hepatosplenomegaly, Hepatomegaly, Weight loss, Renal interstitial amyloid ...	ORPHA:85450
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarge...	ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati...	OMIM:162000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Severe short stature, Nephropathy, Decreased glomerular filtration rate, Elevated circulating cre...	OMIM:242530
Adrenocortical Carcinoma	Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic...	ORPHA:1501
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ...	OMIM:300539
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ...	OMIM:615244
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal...	OMIM:241150
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:606966
Renal Hypoplasia	Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec...	ORPHA:93101
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Gout, Decreased glomer...	OMIM:618061
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis, Obe...	OMIM:616629
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased ...	OMIM:613090
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b...	OMIM:266900
Genetic Steroid-Resistant Nephrotic Syndrome	Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff...	ORPHA:656
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia, Hypertension, Decreased circulating aldosterone l...	OMIM:618114
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypern...	OMIM:602522
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Acute kidney injury, Hypertension, Glomerulonephritis, Glomerular C3 depositi...	ORPHA:567544
Glycogen Storage Disease Ia	Hyperuricemia, Short stature, Enlarged kidney, Hypertension, Gout, Delayed puberty, Decreased glo...	OMIM:232200
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,...	ORPHA:63
Birk-Landau-Perez Syndrome	Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina...	OMIM:617595
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Hypoph...	OMIM:618913
Galloway-Mowat Syndrome 7	Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn...	OMIM:618348
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff...	OMIM:256300
Liddle Syndrome 1	Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Hyperten...	OMIM:177200
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir...	ORPHA:320
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati...	OMIM:619468
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k...	ORPHA:228302
Primary Hyperoxaluria Type 1	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, At...	ORPHA:93598
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Familial Hypoaldosteronism	Hypotension, Hypovolemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyperka...	ORPHA:427
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short stature, Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, ...	OMIM:614376
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e...	OMIM:617575
Glycogen Storage Disease Ib	Hyperuricemia, Short stature, Enlarged kidney, Pancreatitis, Hypertension, Gout, Inflammation of ...	OMIM:232220
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Lateral ventricle dilatation, Nephrotic syndrome, Decreased glomeru...	ORPHA:488627
Bartter Syndrome, Type 3	Hypotension, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Increased circulating renin lev...	OMIM:607364
Galloway-Mowat Syndrome 4	Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang...	OMIM:617730
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hyperaldosteronism, Dysdiadochokinesis, Renal sodium wasting, Hypokalemia, Renal salt wasting, In...	OMIM:612780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport...	OMIM:263200
Alstrom Syndrome	Hypothyroidism, Chronic active hepatitis, Atherosclerosis, Hepatomegaly, Diabetes insipidus, Hype...	OMIM:203800
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Renal cell carcinoma, Macronodular adre...	ORPHA:189427
C3 Glomerulopathy	Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro...	ORPHA:329918
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas...	ORPHA:93126
Cardiomyopathy, Dilated, 1L	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat...	OMIM:606685
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic l...	OMIM:602114
Ochoa Syndrome	Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Hypertension, Re...	ORPHA:2704
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur...	OMIM:300971
East Syndrome	Hyperaldosteronism, Lower limb muscle weakness, Inability to walk, Renal sodium wasting, Hypokale...	ORPHA:199343
Nephronophthisis 7	Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease	OMIM:611498
Galloway-Mowat Syndrome 10	Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr...	OMIM:619609
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ...	ORPHA:157
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Diabetes mellitus, Failure to...	OMIM:613845
Aapoaiv Amyloidosis	Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Coronary arter...	ORPHA:439232
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Cerebellar hemorrhage, Hyperglycinemia, Methylmalonic acidemia, Sta...	OMIM:251000
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal...	ORPHA:255249
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone level, Premature thelarche...	ORPHA:90795
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Elevated hepati...	ORPHA:275555
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d...	OMIM:610489
Hemorrhagic Fever-Renal Syndrome	Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis...	ORPHA:340
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension, Adrenal hyperpl...	OMIM:613677
Senior-Boichis Syndrome	Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat...	ORPHA:84081
Aa Amyloidosis	Hypotension, Hypothyroidism, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormalit...	ORPHA:85445
Congenital Primary Megaureter	Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,...	ORPHA:617
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Glycogen Storage Disease Iv	Cirrhosis, Hepatic failure, Hepatosplenomegaly, Portal hypertension, Tubulointerstitial fibrosis,...	OMIM:232500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ...	ORPHA:228308
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri...	OMIM:613944
Hypomagnesemia 3, Renal	Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu...	OMIM:248250
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hyperalaninemia, Failure to thrive, Hypertrophic cardiomyopathy, He...	OMIM:614582
Acute Adrenal Insufficiency	Hypotension, Decreased circulating aldosterone level, Decreased circulating cortisol level, Prima...	ORPHA:95409
Eosinophilic Granulomatosis With Polyangiitis	Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Weight loss, Transient ischemic attac...	ORPHA:183
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia	OMIM:222100
Dent Disease	Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re...	ORPHA:1652
Nephronophthisis 16	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio...	OMIM:615382
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive,...	OMIM:191800
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle...	OMIM:619263
Bardet-Biedl Syndrome 19	Hypogonadism, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis	OMIM:615996
Focal Segmental Glomerulosclerosis 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl...	OMIM:603965
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Tubulointerstitial fibrosis	OMIM:263000
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Left ventricular hypertrophy, Hypertension, Abnormal renal corticomedullary diff...	OMIM:616733
Bartter Syndrome, Type 2, Antenatal	Hyperactive renin-angiotensin system, Chondrocalcinosis, Polydipsia, Low-to-normal blood pressure...	OMIM:241200
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level...	ORPHA:189439
Cystinosis	Aminoaciduria, Hypothyroidism, Hypophosphatemia, Hypokalemia, Gait disturbance, Type I diabetes m...	ORPHA:213
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium...	OMIM:618314
Bartter Syndrome, Type 1, Antenatal	Hyperactive renin-angiotensin system, Chondrocalcinosis, Low-to-normal blood pressure, Renal salt...	OMIM:601678
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Hypertension, Chronic kidney disease, Nephronophthisis, Congenita...	ORPHA:3156
Nephronophthisis 20	Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff...	OMIM:617271
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperkalemia, Hyperte...	OMIM:614492
Glycogen Storage Disease Ic	Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hyperuricemia, Hematuri...	OMIM:232240
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Duplicated collecting system, Intrauterine growth retardation, Postnatal growt...	OMIM:617093
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Tubulointerstitial nephritis, Proteinuria, Hematuria, Short stature	OMIM:616901
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Infectious encephalitis, Weight loss, Nephrotic syndrome, Hepatitis...	ORPHA:139402
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k...	OMIM:617805
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph...	ORPHA:18
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin...	OMIM:611555
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int...	OMIM:614377
Arima Syndrome	Renal tubular atrophy, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal sodium ...	OMIM:243910
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm...	OMIM:617056
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A	Hypotension, Urinary incontinence, Urinary urgency	OMIM:156310
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate...	ORPHA:90791
Analbuminemia	Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest...	OMIM:616000
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Hypertension, Decreased circulating aldosterone l...	OMIM:218030
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ...	OMIM:613095
Gitelman Syndrome	Parathyroid adenoma, Graves disease, Palpitations, Decreased urinary potassium, Renal tubular aci...	ORPHA:358
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,...	ORPHA:251274
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst...	OMIM:619113
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Short stature, Failure to thrive, Polyuria, Megacystis, Hypernatremia	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Failure to thrive, Polyuria, Megacystis, Hypernatremia, Nephrogenic diabetes insip...	OMIM:125800
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Lysinuric Protein Intolerance	Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste...	ORPHA:470
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar...	ORPHA:33001
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper...	OMIM:619201
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hydronephrosis	OMIM:247990
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia...	ORPHA:449395
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ...	ORPHA:171876
Focal Segmental Glomerulosclerosis 5	Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Nephronophthisis 11	Renal tubular atrophy, Hepatic fibrosis, Stage 5 chronic kidney disease, Renal corticomedullary c...	OMIM:613550
Lessel-Kubisch Syndrome	Short stature, Hypogonadism, Hypertension, Renal hypoplasia, Renal insufficiency	OMIM:618681
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor...	ORPHA:231625
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Hypert...	ORPHA:369929
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Hypertension, Proteinuria, Renal insufficiency, Focal segmental glomerulosclerosis	OMIM:607832
Obesity Due To Sim1 Deficiency	Hypotension, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Pos...	ORPHA:369873
Hepatorenocardiac Degenerative Fibrosis	Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti...	OMIM:619902
Bartter Syndrome Type 4	Impaired renal concentrating ability, Hyperaldosteronism, Small for gestational age, Acute kidney...	ORPHA:89938
Central Diabetes Insipidus	Diabetes insipidus, Weight loss, Nocturia, Failure to thrive, Hyponatremia, Polydipsia	ORPHA:178029
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Elevated circulating parathyroid ...	OMIM:239200
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Pulmonic stenosis, Hydronephrosis	OMIM:264140
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal...	ORPHA:231580
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Snakebite Envenomation	Neuromuscular dysphagia, Hypotension, Rhabdomyolysis, Cerebral ischemia, Acute kidney injury, Pse...	ORPHA:449285
Nephrotic Syndrome, Type 26	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:620049
Lead Poisoning	Tubulointerstitial nephritis, Small for gestational age, Skin rash, Decreased circulating osteoca...	ORPHA:330015
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Adenine Phosphoribosyltransferase Deficiency	Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati...	OMIM:614723
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Failure to thrive, Splenomegaly, Hepatomegaly	OMIM:615285
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria	OMIM:611771
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri...	OMIM:161950
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Rhabdomyolysis, Hyperkalemia, Elevated circulating creatine kinas...	OMIM:145600
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive, Polyuria, Hepatomegaly	OMIM:560000
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:614131
Nephrotic Syndrome, Type 9	Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy...	OMIM:615573
Nephrogenic Diabetes Insipidus	Hyposthenuria, Enuresis nocturna, Hypovolemia, Hydroureter, Nephrogenic diabetes insipidus, Failu...	ORPHA:223
Nephronophthisis 19	Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th...	OMIM:616217
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy...	OMIM:143400
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal...	ORPHA:231632
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis	OMIM:619603
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Eczema, A...	ORPHA:37042
Addison Disease	Hypotension, Decreased circulating aldosterone level, Decreased circulating cortisol level, Prima...	ORPHA:85138
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s...	OMIM:618178
Nephrotic Syndrome, Type 20	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616032
Focal Segmental Glomerulosclerosis 1	Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmental glomer...	OMIM:603278
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Short stature, Abnormality of the kidney, Aortic valve stenosis, En...	ORPHA:459061
Senior-Loken Syndrome 3	Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi...	OMIM:606995
Adenine Phosphoribosyltransferase Deficiency	Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect...	ORPHA:976
8P23.1 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Hydronephrosis	ORPHA:251076
Nephrotic Syndrome, Type 17	Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618176
Image Syndrome	Hydronephrosis, Hypogonadism, Hypospadias, Intrauterine growth retardation, Adrenal hypoplasia	ORPHA:85173
Galloway-Mowat Syndrome 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Glomerular sclerosis, Coarctati...	OMIM:617729
Dysmyelination With Jaundice	Hydroureter, Jaundice, Hypoplasia of penis, Hydronephrosis	OMIM:224250
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis	OMIM:182690
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Renal salt wasting, Failu...	OMIM:264350
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Failure to thrive in infancy, Short stature, Hydronephrosis	ORPHA:85285
Joubert Syndrome 4	Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor...	OMIM:609583
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Increased...	ORPHA:251004
Alkaptonuria	Arthritis, Aortic aneurysm, Elevated urinary homogentisic acid, Decreased glomerular filtration r...	OMIM:203500
Bardet-Biedl Syndrome 17	Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Obesity, Micropenis	OMIM:615994
Nephronophthisis 15	Nephronophthisis, Obesity	OMIM:614845
C3 Glomerulopathy 3	Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa...	OMIM:614809
Cocaine Intoxication	Hypotension, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, Elevated circu...	ORPHA:90068
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Denys-Drash Syndrome	Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Hypertension...	OMIM:194080
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur...	OMIM:308990
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:601894
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Decreased serum creatinine, Myocardial infarction, Proteinuria, A...	ORPHA:54057
Hypouricemia, Renal, 1	Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Gaisböck Syndrome	Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Hypovolemia, Increased ci...	ORPHA:90041
Zollinger-Ellison Syndrome	Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno...	ORPHA:913
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ...	OMIM:600995
Familial Hyperaldosteronism Type I	Hypokalemia, Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis, Secretory adr...	ORPHA:403
Focal Segmental Glomerulosclerosis 10	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien...	OMIM:256020
Rhyns Syndrome	Nephronophthisis, Multicystic kidney dysplasia, Abnormality of the liver	ORPHA:140976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Focal Segmental Glomerulosclerosis 9	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:616220
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Mesang...	OMIM:616818
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Short stature, Hypertension, Proteinuria, Microscopic hematuria	ORPHA:2613
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Hypertension, Elevated circulating creatinine concentration...	OMIM:123550
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease...	ORPHA:289548
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease...	ORPHA:168558
Posterior Urethral Valve	Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention...	ORPHA:93110
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor...	ORPHA:84090
Parathyroid Carcinoma	Nephroblastoma, Primary hyperparathyroidism, Chondrocalcinosis, Weight loss, Renal hamartoma, Thy...	ORPHA:143
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Hinman Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone...	ORPHA:84085
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Primary hyperald...	OMIM:615474
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret...	ORPHA:195
Nelson Syndrome	Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a...	ORPHA:199244
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ...	OMIM:612926
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp...	OMIM:179800
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis	OMIM:614844
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti...	ORPHA:91500
Urofacial Syndrome 2	Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency...	OMIM:615112
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ...	OMIM:612924
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level...	ORPHA:786
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Rhabdomyolysis, Cardiac arrest, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Hereditary Xanthinuria	Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,...	ORPHA:3467
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph...	OMIM:219800
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Hypothyroidism, Hypocalcemic tetany, Low-m...	ORPHA:411634
Pediatric-Onset Graves Disease	Hyperactivity, Sinus tachycardia, Increased circulating T4 concentration, Thyrotoxicosis with dif...	ORPHA:525731
Hyperparathyroidism-Jaw Tumor Syndrome	Nephroblastoma, Primary hyperparathyroidism, Chondrocalcinosis, Parathyroid adenoma, Thyroid carc...	ORPHA:99880
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Bardet-Biedl Syndrome 9	Polyphagia, Truncal obesity, Renal insufficiency, Obesity, Polydipsia	OMIM:615986
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Decreased plasma c...	ORPHA:159
Hypertension, Essential	Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated mean arterial pressure	OMIM:145500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Hyperuricemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellu...	ORPHA:79259
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ...	ORPHA:79233
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Xanthinuria, Type I	Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis	OMIM:278300
Fanconi Anemia, Complementation Group O	Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis	OMIM:613390
Relapsing Fever	Increased total bilirubin, Hypotension, Acute kidney injury, Jaundice, Hematuria, Elevated hepati...	ORPHA:91547
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ...	OMIM:214700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Renal dysplasia, Elevated hepatic transaminase, Elevated circ...	OMIM:608836
Systemic Capillary Leak Syndrome	Hypotension, Weight loss, Abnormal renal tubule morphology, Pericarditis, Oliguria, Arrhythmia, R...	ORPHA:188
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Facial telangiectasia, Impulsivity, Attention deficit hyperactivity disorder, Pulm...	OMIM:620141
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum, Hydronephrosis	OMIM:617127
Cardiogenic Shock	Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C...	ORPHA:97292
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Aplasia/Hypoplasia of the pancreas, ...	ORPHA:93111
Congenital Myopathy 19	Dysphagia, Renal atrophy, Hydronephrosis	OMIM:618578
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:618349
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot...	OMIM:120330
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Whipple Disease	Hypotension, Hypothyroidism, Cachexia, Ataxia, Pericarditis, Myocardial infarction, Myositis, Gas...	ORPHA:3452
Helix Syndrome	Hypokalemia, Hypermagnesemia, Hyperparathyroidism, Polyuria, Hypocalciuria, Renal insufficiency, ...	OMIM:617671
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Igg4-Related Retroperitoneal Fibrosis	Large vessel vasculitis, Psoriasiform dermatitis, Weight loss, Acute kidney injury, Deep dermal p...	ORPHA:49041
Coach Syndrome 2	Hepatic fibrosis, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Elevated circulat...	OMIM:619111
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ...	OMIM:236730
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency	OMIM:204690
Panhypophysitis	Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased ...	ORPHA:95513
Jeune Syndrome	Nephronophthisis, Nephropathy, Renal insufficiency, Abnormality of the liver	ORPHA:474
Intermediate Uveitis	Tubulointerstitial nephritis, Vasculitis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula...	OMIM:614455
Acquired Central Diabetes Insipidus	Diabetes insipidus, Polydipsia, Pollakisuria, Weight loss	ORPHA:95626
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Congestive heart failure, Hypertension, Myocardial infarction, Increase...	OMIM:615703
Hereditary Central Diabetes Insipidus	Diabetes insipidus, Polydipsia, Weight loss	ORPHA:30925
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant...	OMIM:617609
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis, Decreased body weight, Intrauterine growth retardation	OMIM:617564
Chromosome 5Q12 Deletion Syndrome	Hypotension, Decreased body mass index	OMIM:615668
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Diabetes mellitus, Diabetes insipidus, Hydronephrosis	OMIM:598500
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Decreased urine out...	ORPHA:542323
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Rayn...	ORPHA:247691
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr...	OMIM:619155
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, ...	ORPHA:90301
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Rabson-Mendenhall Syndrome	Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level...	ORPHA:769
Legionnaires Disease	Hypotension, Cellulitis, Hematuria, Ataxia, Pericarditis, Proteinuria, Arrhythmia, Hyponatremia, ...	ORPHA:549
Leprechaunism	Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged kid...	ORPHA:508
Teratoma, Pineal	Polyuria	OMIM:273120
Renal Tubular Dysgenesis	Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Hypotension	OMIM:267430
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Pancreatic cysts, Chronic pancreatitis, Stage 5 chronic kidney disease, Re...	OMIM:613159
Tyrosinemia, Type I	Hypermethioninemia, Enlarged kidney, Glomerular sclerosis, Elevated circulating alpha-fetoprotein...	OMIM:276700
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Enamel hypomineralization, Hypovolemia, Glycosuria, Hyperphosphat...	ORPHA:47159
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Jaundice, Abno...	OMIM:274150
Galloway-Mowat Syndrome 1	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta...	OMIM:251300
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Decreased urinary p...	OMIM:611489
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Agenesis of corpus callosum, Hydronep...	OMIM:613735
Pierson Syndrome	Retinal hemorrhage, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Hypoprotein...	OMIM:609049
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Lower limb muscle weakness, Abnormality of jaw muscles, Acute kidney injury, E...	ORPHA:99845
Structural Heart Defects And Renal Anomalies Syndrome	Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At...	OMIM:617478
Ethylene Glycol Poisoning	Hypotension, Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Congestive hea...	ORPHA:31826
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti...	ORPHA:731
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren...	OMIM:614748
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Joubert Syndrome 35	Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Senior-Loken Syndrome 8	Pancreatic cysts, Hepatic cysts, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatatio...	OMIM:616307
Diabetic Embryopathy	Hydronephrosis, Abnormal aortic morphology, Abnormality of the pancreas, Ventricular septal defec...	ORPHA:1926
Diarrhea 10, Protein-Losing Enteropathy Type	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ...	OMIM:618183
Joubert Syndrome 15	Nephronophthisis, Micropenis	OMIM:614464
Lipodystrophy, Familial Partial, Type 7	Pulmonary arterial hypertension, Hypercholesterolemia, Gait ataxia, Lower limb muscle weakness, D...	OMIM:606721
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis	OMIM:236110
Neuroleptic Malignant Syndrome	Hypotension, Elevated circulating creatine kinase concentration, Dysphagia, Hyponatremia, Hyperna...	ORPHA:94093
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Short stature, Anterior hypopituitarism, R...	OMIM:602152
Endove Syndrome, Limb-Brain Type	Osteomyelitis, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive, Hydrone...	OMIM:619218
Familial Glucocorticoid Deficiency	Hypotension, Precocious puberty, Decreased circulating aldosterone level, Weight loss, Recurrent ...	ORPHA:361
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Ort...	OMIM:223900
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Wolfram Syndrome	Diabetes insipidus, Hypogonadism, Recurrent urinary tract infections, Dysuria, Ataxia, Male hypog...	ORPHA:3463
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Congestive heart failure, Nephritis, ...	OMIM:617303
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Decreased body weight, Short stature, Hydronephrosis	OMIM:618265
Erdheim-Chester Disease	Diabetes insipidus, Weight loss, Dysuria, Congestive heart failure, Ataxia, Hypogonadotropic hypo...	ORPHA:35687
Beta-Ketothiolase Deficiency	Oral aversion, Hypotension, Hyperuricemia, Weight loss, Ketonuria, Hypertension, Agitation, Ataxi...	ORPHA:134
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Short stature, Small for gestational age, ...	OMIM:609757
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Inability to walk, Small for gestational age, Ataxia, Abnormality of medulla...	ORPHA:79243
Cushing Disease	Recurrent cutaneous fungal infections, Pituitary corticotropic cell adenoma, Increased circulatin...	ORPHA:96253
Meningococcal Meningitis	Hypotension, Elevated circulating C-reactive protein concentration, Renal insufficiency, Shock	ORPHA:33475
Colchicine Poisoning	Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Hypocalcemia, Congest...	ORPHA:31824
Bacterial Toxic-Shock Syndrome	Hypotension, Recurrent urinary tract infections, Cellulitis, Fasciitis, Hypocalcemia, Elevated ci...	ORPHA:36234
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer...	OMIM:614921
Hydroxykynureninuria	Hypotension, Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis	ORPHA:79155
Congenital Hypothyroidism	Hypotension, Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Hypertension, Macroglossia, ...	ORPHA:442
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts	OMIM:609886
Thyrocerebrorenal Syndrome	Euthyroid goiter, Renal insufficiency, Nephritis	ORPHA:3327
Igg4-Related Aortitis	Ascending tubular aorta aneurysm, Weight loss, Abnormal aortic arch morphology, Elevated circulat...	ORPHA:449400
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis	OMIM:607598
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Cholestasis, Hepatomegaly, Nephrono...	OMIM:615630
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Failure to thrive, Hepatomegaly, Rena...	OMIM:604273
Coach Syndrome 1	Hepatic fibrosis, Multiple small medullary renal cysts, Cirrhosis, Stage 5 chronic kidney disease...	OMIM:216360
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Cardiomyopathy, Neurogenic bladder, Hydroureter, Testicular a...	OMIM:222300
Desmoid Tumor	Abnormality of the upper urinary tract, Gastrointestinal hemorrhage, Hydronephrosis	ORPHA:873
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ...	OMIM:220210
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons...	ORPHA:91354
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo...	OMIM:104200
Vesicoureteral Reflux 3	Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G...	OMIM:613674
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular atrophy, Aminoaciduria, Intrahepatic biliary atresia, Patent foramen ovale, Renal t...	OMIM:208085
Tetraploidy	Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the thymus, Intrauterine growth retardation, Hydr...	ORPHA:3305
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Dysphagia, Calcinosis, Hypokalemia, Hypertension, Renal artery stenosis, Hyponatre...	OMIM:617913
Serotonin Syndrome	Hypotension, Rhabdomyolysis, Acute kidney injury, Hypertension, Agitation, Restlessness, Tachycardia	ORPHA:43116
Cholera	Hypotension, Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Hypokal...	ORPHA:173
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat...	OMIM:615605
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev...	OMIM:202010
Mercury Poisoning	Hypotension, Acute kidney injury, Hypokalemia, Hypertension, Tachycardia	ORPHA:330021
Recombinant Chromosome 8 Syndrome	Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:179613
Distal Trisomy 6P	Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati...	ORPHA:1745
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:203780
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, ...	OMIM:137920
Infantile Nephropathic Cystinosis	Aminoaciduria, Abnormality of thyroid physiology, Glycosuria, Hyperphosphaturia, Hypophosphatemia...	ORPHA:411629
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Renal cyst, Peripheral pulm...	OMIM:610205
Lymphoid Interstitial Pneumonia	Weight loss, Bronchiectasis, Rheumatoid arthritis, Enlarged kidney, Skin rash, Raynaud phenomenon...	ORPHA:79128
Autoimmune Polyendocrinopathy Type 3	Tubulointerstitial nephritis, Thymoma, Autoimmune hypoparathyroidism, Atrophic gastritis, Iridocy...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Tubulointerstitial nephritis, Thymoma, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid a...	ORPHA:227990
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
22Q11.2 Duplication Syndrome	Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Attention deficit hyp...	ORPHA:1727
Ileal Neuroendocrine Tumor	Hypotension, Weight loss, Arterial occlusion, Cardiogenic shock, Increased serum serotonin, Arrhy...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Hypotension, Weight loss, Arterial occlusion, Cardiogenic shock, Increased serum serotonin, Arrhy...	ORPHA:100077
Tako-Tsubo Cardiomyopathy	Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ...	ORPHA:66529
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria, Cholangitis, Failure to thrive, Hype...	OMIM:124000
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Stillbirth, A...	OMIM:615415
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Aortic dissection...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Aortic dissection...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Aortic dissection...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Aortic dissection...	ORPHA:881
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hypertension, Increased blood urea nitrog...	OMIM:235400
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:617731
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect,...	OMIM:618494
Sarcoidosis	Hypothyroidism, Bronchiectasis, Keratoconjunctivitis sicca, Heart block, Parotitis, Hepatomegaly,...	ORPHA:797
Microscopic Polyangiitis	Glomerulopathy, Episcleritis, Skin rash, Arthritis, Peritonitis, Hematuria, Congestive heart fail...	ORPHA:727
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Abnormality of the kidn...	ORPHA:289390
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypothyroidism, Gait ataxia, Urinary bladder sphincter dysfunction, Pollakisuria, Ga...	ORPHA:93256
Scrub Typhus	Hypotension, Renal insufficiency, Myocarditis	ORPHA:83317
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Splenomegaly, Diffuse mesangial sclerosis, Hepatomegaly	OMIM:102700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease	OMIM:617661
Sepsis In Premature Infants	Hypotension, Decreased body weight, Small for gestational age, Reversible renal failure, Oliguria...	ORPHA:90051
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:301006
Joubert Syndrome 7	Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:611560
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Diabetes mellitus, Nephropathy, Renal artery stenosis, Coronary artery atherosclerosis, Proteinur...	OMIM:209010
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Neonatal death, Urethral atresia, Hydronephrosis	OMIM:314390
Granulomatosis With Polyangiitis	Glomerulopathy, Prostatitis, Inflammatory abnormality of the eye, Angina pectoris, Pericarditis, ...	ORPHA:900
Septo-Optic Dysplasia Spectrum	Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Hypoplasia of penis, Obesit...	ORPHA:3157
Webb-Dattani Syndrome	Vesicoureteral reflux, Diabetes insipidus, Decreased response to growth hormone stimulation test,...	OMIM:615926
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis, Raynaud phenomenon	OMIM:607944
Netherton Syndrome	Aminoaciduria, Short stature, Skin rash, Eczema, Ectopic kidney, Erythroderma, Hydronephrosis	ORPHA:634
Post-Traumatic Pituitary Deficiency	Hypotension, Decreased response to growth hormone stimulation test, Decreased circulating ACTH le...	ORPHA:95619
H Syndrome	Facial telangiectasia, Hypogonadism, Short stature, Bronchiectasis, Abnormality of the kidney, En...	ORPHA:168569
Joubert Syndrome 37	Short stature, Hepatomegaly, Obesity, Micropenis, Hydronephrosis	OMIM:619185
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Nephritis, Myocardial infarction, Nephropathy, Proteinuria, Ren...	ORPHA:182050
Joubert Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Lateral ventricle dilatation	OMIM:608629
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Capillary fragility, Atypical pulmonary carcinoid tumor, Ad...	ORPHA:99889
Neuroendocrine Tumor Of The Colon	Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca...	ORPHA:100080
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Vesicoureteral reflux, Short stature, Small for gestational age, Pulmonic stenosis, Elevated circ...	OMIM:301056
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Alc...	ORPHA:36238
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity, Tricuspid regurgitation	OMIM:600151
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting	OMIM:613743
Bronchial Neuroendocrine Tumor	Hypotension, Facial telangiectasia, Weight loss, Increased circulating cortisol level, Cardiogeni...	ORPHA:97287
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Hyperaldosteronism, Abnormal T-wave, Sho...	ORPHA:37553
Pde4D Haploinsufficiency Syndrome	Hypotension, Elevated circulating parathyroid hormone level, Hypospadias, Obesity, Abnormal denta...	ORPHA:439822
Microphthalmia, Syndromic 9	Truncus arteriosus, Pulmonary artery atresia, Ventricular septal defect, Renal malrotation, Hypop...	OMIM:601186
46,Xy Sex Reversal 4	Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ...	OMIM:154230
Frasier Syndrome	Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Hypertension, Proteinuri...	ORPHA:347
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas...	OMIM:609057
Heme Oxygenase 1 Deficiency	Hematuria, Hypertension, Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating...	OMIM:614034
Autosomal Dominant Hypocalcemia	Hypotension, Hyperphosphatemia, Congestive heart failure, Arrhythmia, Nephrocalcinosis, Hypocalce...	ORPHA:428
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated hepatic transaminase, Elev...	OMIM:620138
Nipah Virus Disease	Hypotension	ORPHA:99825
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Rhizomelia, Stage 1 chronic kidney disease, Stage 5 chronic kidney ...	OMIM:218330
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Gapo Syndrome	Tubulointerstitial fibrosis, Hepatomegaly	OMIM:230740
Lujo Hemorrhagic Fever	Hypotension, Myocarditis, Shock, Oliguria, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Toxic Epidermal Necrolysis	Sudden cardiac death, Weight loss, Dysuria, Gastrointestinal hemorrhage, Dysphagia, Renal insuffi...	ORPHA:537
Bor Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc...	ORPHA:107
Hardikar Syndrome	Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly...	OMIM:301068
Prune Belly Syndrome	Congenital posterior urethral valve, Hydroureter, Hydronephrosis	OMIM:100100
Neuroendocrine Tumor Of The Rectum	Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca...	ORPHA:100082
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, T-wave inversion, Enlarged kidney, ST segment depression, Congestive heart failure, ...	OMIM:261740
Erythrocytosis, Familial, 2	Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Failure to thrive, Elevated ci...	OMIM:263400
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Syncope, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Orthos...	ORPHA:230
Diaphanospondylodysostosis	Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis,...	OMIM:608022
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal T-wave, Hyperphosphatemia, Rhabdomyolysis, Acute kidney injury, Sinus tachy...	ORPHA:466650
Congenital Tricuspid Stenosis	Pulmonary arterial hypertension, Hypotension, Heart murmur, Congestive heart failure, Carcinoid t...	ORPHA:95459
Non-Functioning Pituitary Adenoma	Hypotension, Adrenal insufficiency, Anterior hypopituitarism, Increased circulating gonadotropin ...	ORPHA:91349
Acquired Von Willebrand Syndrome	Hypotension, Hematuria, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral ...	ORPHA:99147
Infant Botulism	Hypotension, Cardiac arrest, Hypertension, Hyponatremia, Dysphagia	ORPHA:178478
Duodenal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Increased circulating ACTH level, Intestinal carcinoid, Insulinom...	ORPHA:100076
Dengue Fever	Hypotension, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorrhage	ORPHA:99828
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Growth delay, Hydronephrosis	ORPHA:488613
Simple Cryoglobulinemia	Weight loss, Nephrotic syndrome, Abnormality of the kidney, Vasculitis, Raynaud phenomenon, Arthr...	ORPHA:91139
Atresia Of Urethra	Vesicoureteral reflux, Pulmonary insufficiency, Renal dysplasia, Bladder fistula, Hydroureter, Re...	ORPHA:105
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Johanson-Blizzard Syndrome	Short stature, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Hypoprotei...	ORPHA:2315
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Atrioventricular canal defect, Pul...	ORPHA:210122
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Sudden cardiac death, Hyperaldosteronism, Hypocalcemic tetany,...	ORPHA:73224
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Proteinuria, Hematuria, Pulmonary venous hypertension	ORPHA:90060
Joubert Syndrome 6	Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Stage 5 chronic kidney disease	OMIM:610688
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Conjunctivitis, Tricuspid regurgitation, Nephrotic syndrome, Enl...	ORPHA:505248
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Periodontitis, Moderate albuminuria, Type I diabetes mellitus, Proportionate ...	OMIM:619269
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren...	ORPHA:2237
Feingold Syndrome Type 1	Vesicoureteral reflux, Renal dysplasia, Abnormality of the kidney, Interrupted aortic arch, Nephr...	ORPHA:391641
Liddle Syndrome 3	Hypokalemia, Hypertension	OMIM:618126
Frasier Syndrome	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:136680
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur...	OMIM:208540
Kury-Isidor Syndrome	Attention deficit hyperactivity disorder, Ventricular septal defect, Hydronephrosis	OMIM:619762
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase c...	OMIM:607426
Cutaneous Mastocytoma	Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Late-Onset Isolated Acth Deficiency	Hypotension, Hyperuricemia, Weight loss, Decreased circulating ACTH level, Decreased circulating ...	ORPHA:199299
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Axial Mesodermal Dysplasia Spectrum	Abnormality of the liver, Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Abnorm...	ORPHA:1834
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hyp...	OMIM:301050
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Growth delay, Hypoplasia of penis, Intrauterine growth retardation, Hydronephrosis	ORPHA:2083
Congenital Isolated Acth Deficiency	Hypotension, Decreased circulating cortisol level, Hyperkalemia, Adrenocorticotropin deficient ad...	ORPHA:199296
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Failure to thrive, Recurrent pneumonia, Dysplastic corpus callosum, Hydronephrosis	OMIM:619179
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste...	ORPHA:541423
Galloway-Mowat Syndrome 6	Proteinuria, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome	OMIM:618347
Even-Plus Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Severe short stature, Renal hypoplasia...	OMIM:616854
Toluene Embryopathy	Abnormal localization of kidney, Short stature, Hydronephrosis	ORPHA:1920
9Q21.13 Microdeletion Syndrome	Abnormal heart morphology, Hydronephrosis	ORPHA:531151
Bardet-Biedl Syndrome 12	Hypogonadism, Hydroureter, Cystic renal dysplasia, Obesity, Hydronephrosis	OMIM:615989
Suleiman-El-Hattab Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hydronephrosis	OMIM:618950
Kleefstra Syndrome	Vesicoureteral reflux, Short stature, Hypoplasia of penis, Coarctation of aorta, Renal cyst, Hypo...	ORPHA:261494
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Hypertrophic cardiomyopathy, Hypospadias, Micropenis, Cardiomegaly, In...	OMIM:616897
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