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Gene: Adamts1 MGI:109249

Gene Summary

Name:

ADAM metallopeptidase with thrombospondin type 1 motif 1

Synonyms:

METH1, METH-1, ADAMTS-1, ADAM-TS1

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tail morphology	Adamts1^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal heart morphology	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal blood vessel morphology	Adamts1^em1(IMPC)Mbp	HOM	E18.5	0.00
preweaning lethality, incomplete penetrance	Adamts1^em1(IMPC)Mbp	HOM	Early adult	0.00
eye hemorrhage	Adamts1^em1(IMPC)Mbp	HET	Early adult	1.14×10^-05
abnormal body wall morphology	Adamts1^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Adamts1^em1(IMPC)Mbp	HET	E18.5	0.00
no spontaneous movement	Adamts1^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal placenta morphology	Adamts1^em1(IMPC)Mbp	HOM	E18.5	0.00
small heart	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Adamts1^em1(IMPC)Mbp	HOM	E18.5	0.00
small kidney	Adamts1^em1(IMPC)Mbp	HET	Early adult	0.00

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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.

Gross Morphology Embryo E18.5

Images

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

75 Images

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X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Adamts1 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 Adamts1 (0 diseases)
Human diseases predicted to be associated with Adamts1 (927 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adamts1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Rudiger Syndrome	Inguinal hernia, Bicornuate uterus, Ovarian cyst, Flexion contracture, Ureterovesical stenosis, M...	OMIM:268650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Thrombocytopenia, ...	ORPHA:3002
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Decreased numbers of nephrons, Atretic vas ...	OMIM:137920
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc...	OMIM:143880
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Elevat...	ORPHA:49041
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega...	OMIM:619902
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot...	OMIM:140000
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter...	ORPHA:2438
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Cloacal Exstrophy	Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Abnormal clitoris morphology, Hypoplasia o...	ORPHA:93929
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Nephronophthisis 9	Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis	OMIM:613824
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Nephronophthisis-Like Nephropathy 2	Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating creatinine co...	OMIM:619468
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Prune Belly Syndrome	Hydroureter, Multicystic kidney dysplasia, Renal insufficiency, Abnormality of the bladder, Recur...	ORPHA:2970
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia	OMIM:620152
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k...	OMIM:606966
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium...	OMIM:618314
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormal bleeding, Anemia, Epidural hemorrhage, Abnormality of the lymphatic sys...	ORPHA:464329
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti...	OMIM:607364
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro...	OMIM:191800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure...	OMIM:613845
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Premature ovarian insufficiency, Nephronophthisis, Chronic kidney...	ORPHA:3156
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Type 1 Diabetes Mellitus	Polyuria, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Inguinal hernia, Failure to thrive, Ureteropelvic junction obstruction, H...	ORPHA:444072
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Distal arthrogryposis, Fail...	OMIM:618975
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Distal arthrogryposis, Cryptorchidism	OMIM:617557
Kabuki Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting sys...	ORPHA:2322
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters...	OMIM:614817
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy...	OMIM:613677
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag...	OMIM:613550
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital...	OMIM:273250
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Diabetes insipidus, Failure to thrive, Hypernatremia, Megacystis	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia, Megacystis	OMIM:125800
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin...	OMIM:201910
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El...	OMIM:266900
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Large for gestational age, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalc...	OMIM:615398
Senior-Loken Syndrome 9	Nephronophthisis, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Tubulointerstitial nephr...	OMIM:616629
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp...	OMIM:611555
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Renal Fanconi syndrome, Hypop...	OMIM:219800
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Proximal tubulopathy, Failure to thrive, Type I diabetes mellitus	OMIM:560000
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass...	OMIM:241200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyp...	OMIM:239200
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Dilatation of renal calices, Cryptorchidism, Inguinal hernia	OMIM:614294
Coach Syndrome 3	Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr...	OMIM:619113
Rhyns Syndrome	Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis	ORPHA:1046
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,...	ORPHA:2795
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Ureteral dysgenesis, Abnormality of the endocrine system	OMIM:274265
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Hypoplasia of penis, Abnormality of the ureter, Camptodactyly of fing...	ORPHA:3409
Trimethylaminuria	Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency, Hypogonadism	OMIM:618681
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Large for gestational age, Duplicated collecting system, Inguinal ...	OMIM:280000
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Septate vagina, Hypocholesterolemia, Hypospadias, Bicornuate uterus...	OMIM:270400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Grade III vesicoureteral ref...	OMIM:619522
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased fertility in females, Hyposp...	ORPHA:1916
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal...	OMIM:180860
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hydroureter, Obesity, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic ren...	OMIM:615989
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas...	ORPHA:189427
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroid hyperplasi...	OMIM:617994
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Congenital hypothyroidism, Failure to thrive, Ureteropelvic junction obstruct...	OMIM:616973
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Vater/Vacterl Association	Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Failure to thrive, Hydronephr...	OMIM:192350
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons...	OMIM:201810
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype...	OMIM:617671
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinos...	OMIM:204690
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Gitelman Syndrome	Delayed puberty, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increas...	OMIM:263800
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hyp...	ORPHA:818
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hydronephrosis, Renal insufficiency	OMIM:615996
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ...	OMIM:603278
Primary Pulmonary Hypoplasia	Failure to thrive, Ureteral stenosis	ORPHA:2257
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R...	ORPHA:2842
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr...	OMIM:612780
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va...	OMIM:158330
Monosomy 9P	Congenital diaphragmatic hernia, Hypospadias, Ureteropelvic junction obstruction, Hernia, Ambiguo...	ORPHA:261112
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the...	OMIM:194072
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,...	ORPHA:99827
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Hypothyroidism, Uretero...	ORPHA:506358
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis	OMIM:278300
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Abnormal circulating testosterone concentration, Hypokalemia, Infertility, O...	ORPHA:786
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H...	OMIM:618183
Nephronophthisis 18	Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ...	OMIM:615862
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility	ORPHA:721
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Duplication Of Urethra	Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R...	ORPHA:237
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Joubert Syndrome 15	Ambiguous genitalia, Nephronophthisis, Micropenis	OMIM:614464
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Igg4-Related Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu...	ORPHA:449395
Bladder Exstrophy	Epispadias, Abnormal clitoris morphology, Inguinal hernia, Hypoplasia of penis, Recurrent urinary...	ORPHA:93930
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Renal hypoplasia/aplasia, Abnormality of the ureter, Umbilical hernia, Polycy...	ORPHA:1770
Okamoto Syndrome	Urinary incontinence, Omphalocele, Ureteropelvic junction obstruction, Hydronephrosis, Bifid uter...	ORPHA:2729
Wiedemann-Steiner Syndrome	Dilatation of renal calices, Decreased response to growth hormone stimulation test, Failure to th...	ORPHA:319182
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Caudal Duplication	Renal hypoplasia/aplasia, Ureteral duplication, Cryptorchidism, Uterus didelphys, Omphalocele, Ab...	ORPHA:1756
Granulomatosis With Polyangiitis	Glomerulopathy, Prostatitis, Hematuria, Elevated circulating C-reactive protein concentration, Di...	ORPHA:900
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele...	ORPHA:322
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Dilatation of renal calices, Pelvic kidney, Obesity, Truncal obesity	ORPHA:466950
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t...	ORPHA:3109
Nephronophthisis 19	Nephronophthisis, Bile duct proliferation, Hyperechogenic kidneys, Renal interstitial fibrosis, S...	OMIM:616217
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity, Abnormality of the ureter	ORPHA:1035
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Caudal Regression Syndrome	Ureteral duplication, Maternal diabetes, Ectopic kidney, Vesicoureteral reflux, Abnormality of th...	ORPHA:3027
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:615415
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Teratoma, Pineal	Polyuria	OMIM:273120
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Flexion contracture, Renal dysplasia, Elevated c...	OMIM:616733
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter,...	ORPHA:1834
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Urete...	OMIM:269150
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis...	OMIM:103900
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cryptorchidism, Abnormality of the urinary system, Inguinal hernia, Ureteral stenosis	ORPHA:2719
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Ascites...	ORPHA:464321
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ...	OMIM:243910
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Oligomeganephronia	Congenital diaphragmatic hernia, Elevated circulating creatinine concentration, Abnormal nephron ...	ORPHA:2260
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Pelvic kidney, Obesity	ORPHA:466943
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Sotos Syndrome	Ureteral duplication, Congenital posterior urethral valve, Umbilical hernia, Abnormality of the k...	ORPHA:821
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Aredyld Syndrome	Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormality of the ureter, Type II diab...	ORPHA:1133
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicovaginal...	OMIM:300896
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Decreased response to growth hormone stimulation test, Hypospa...	ORPHA:3455
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Microscopic he...	ORPHA:319213
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst	OMIM:613390
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria	ORPHA:251004
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Jeune Syndrome	Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Kabuki Syndrome 1	Anoperineal fistula, Premature thelarche, Congenital hypothyroidism, Ureteropelvic junction obstr...	OMIM:147920
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper...	ORPHA:251274
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic ...	OMIM:613313
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Biliary tract ...	ORPHA:79301
Castleman Disease	Hematuria, Ureteral obstruction, Renal insufficiency, Weight loss	ORPHA:160
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Teebi-Shaltout Syndrome	Hydronephrosis, Horseshoe kidney, Camptodactyly, Ureteral stenosis	OMIM:272950
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic...	OMIM:613159
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hyperaldosteronism	ORPHA:369929
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, He...	OMIM:616307
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur...	OMIM:608836
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr...	ORPHA:2547
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ...	ORPHA:79404
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria...	OMIM:105200
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Abnormality of the ureter, Camptod...	ORPHA:2311
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter...	ORPHA:90790
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubu...	OMIM:617303
Peutz-Jeghers Syndrome	Renal cell carcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cyst...	ORPHA:2869
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Ovotestis, Hypospadias, Renal agenesis, Hypoplasia of the bladde...	OMIM:611812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612925
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Splenomegaly,...	OMIM:616589
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hypopituitarism...	OMIM:602152
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Tetraploidy	Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:3305
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski...	OMIM:617718
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila...	OMIM:602390
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a...	ORPHA:247768
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2522
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:600740
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231580
Distal Duplication 6P	Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system	ORPHA:1745
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter	OMIM:619431
15Q Overgrowth Syndrome	Abnormal renal morphology, Hydronephrosis, Contracture of the proximal interphalangeal joint of t...	ORPHA:314585
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612926
Interstitial Cystitis	Abnormal labia morphology, Elevated circulating C-reactive protein concentration, Abnormal vagina...	ORPHA:37202
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce...	ORPHA:231401
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio...	ORPHA:2414
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at...	OMIM:617914
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Cryptorchidism, Micropenis, Abnor...	ORPHA:1926
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Arthrogryposis ...	OMIM:616258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel...	OMIM:222300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal...	OMIM:208540
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, ...	ORPHA:99826
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Ureterocele	Ureterocele, Duplicated collecting system	OMIM:191650
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Bladder Exstrophy And Epispadias Complex	Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Inguinal hernia, Bladder exst...	OMIM:600057
Otopalatodigital Syndrome Type 2	Failure to thrive, Ureteral obstruction, Hydronephrosis, Hypospadias	ORPHA:90652
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipidus, Functional abnorma...	ORPHA:223
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:200995
Smith-Magenis Syndrome	Hypertriglyceridemia, Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Preco...	ORPHA:819
Premature Ovarian Failure 7	Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ...	OMIM:612964
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del...	ORPHA:99429
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Ce...	ORPHA:509
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	OMIM:613735
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ...	ORPHA:168563
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis,...	OMIM:612840
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Melnick-Needles Syndrome	Failure to thrive, Omphalocele, Hydronephrosis, Ureteral stenosis	OMIM:309350
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Renal tubular acidosis, Nephrogenic diabetes insipidus, Failure to thr...	OMIM:208085
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux	OMIM:618265
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Hereditary Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter	ORPHA:30
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Sple...	OMIM:269920
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization	OMIM:193235
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia...	OMIM:619463
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Supraventricular arrhythmia, Retinal hemorrhage, Renal cyst, Raynaud phenomenon, Lacun...	OMIM:611773
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity, Nephronophthisis, Chronic kidney disease	OMIM:615630
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthenuria, Neuroge...	OMIM:615926
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Diabetes mellitus...	ORPHA:261265
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Abnormal medullary pyramid morphology, Increased serum pyruvate, Flexi...	ORPHA:79243
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S...	ORPHA:403
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Alagille Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Failure...	ORPHA:52
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Trisomy 20P	Abnormality of the kidney, Hypospadias, Inguinal hernia, Abnormality of the ureter, Umbilical her...	ORPHA:261318
Familial Hyperaldosteronism Type Ii	Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G...	ORPHA:404
Branchioskeletogenital Syndrome	Penoscrotal hypospadias, Absent nipple, Ureteral stenosis, Umbilical hernia, Bladder exstrophy, M...	ORPHA:1299
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Decreased adipose tissue around neck, Loss of subcutaneous adipos...	OMIM:606721
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Abnormal bleeding, Acute myeloid leuke...	ORPHA:75564
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, He...	ORPHA:294
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Enamel hypoplasia, Nephrocalcinosis, ...	OMIM:211900
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Abnormal dental enamel morphology, Hypogonadism, Abnormality of the ureter	ORPHA:3253
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, ...	OMIM:617641
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney	OMIM:614846
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Neonatal Lupus Erythematosus	Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pan...	ORPHA:398124
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Abnormality of the ureter, ...	OMIM:175200
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Dyspareunia, Flexion contracture, Renal insufficiency	ORPHA:220393
Papillorenal Syndrome	Stage 5 chronic kidney disease, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinu...	OMIM:120330
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis...	OMIM:603903
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric...	ORPHA:79403
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Joubert Syndrome 37	Hydronephrosis, Micropenis, Hepatomegaly	OMIM:619185
Cushing Disease	Increased circulating ACTH level, Secondary amenorrhea, Increased urinary cortisol level, Increas...	ORPHA:96253
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Weight loss, Abnormal renal tubule morphology	ORPHA:188
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation	OMIM:610688
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Recombinant Chromosome 8 Syndrome	Hydronephrosis	OMIM:179613
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp...	OMIM:615830
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis	OMIM:618494
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
H Syndrome	Abnormality of the kidney, Enlarged kidney, Micropenis, Hepatosplenomegaly	ORPHA:168569
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Hypoplasia of the fallopian tube, Renal agenesis, Vaginal atresi...	OMIM:273395
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis, Pineal cyst	OMIM:617516
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Renal dysplasia, Unilateral renal atrophy, Nephritis, Pyelonephritis	OMIM:314300
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis...	OMIM:236700
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple...	OMIM:216360
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Hepatoportal Sclerosis	Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja...	ORPHA:64743
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:289
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae...	ORPHA:824
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ...	ORPHA:158029
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis, Dentinogenesis imperfecta	OMIM:184260
Dextrocardia	Abnormal renal morphology, Pancreatic hypoplasia, Abnormal reproductive system morphology, Abnorm...	ORPHA:1666
Lassa Fever	Oliguria, Menometrorrhagia	ORPHA:99824
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Failure to thrive, Flexion contracture, Absent gallbladder, ...	OMIM:617140
Toriello-Lacassie-Droste Syndrome	Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Failure to thrive...	ORPHA:3339
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren...	ORPHA:158684
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico...	OMIM:300707
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Renal tubular acidosis, Renal cyst, Death in infancy, Renal hypop...	OMIM:614922
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Arthrogryposis multiplex congenita	OMIM:236500
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis	ORPHA:2083
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Fliedner-Zweier Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Noonan Syndrome 9	Cryptorchidism, Hydroureter	OMIM:616559
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn...	ORPHA:173
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Elbow flexion contracture, Aplasia ...	OMIM:200980
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ...	ORPHA:505248
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullar...	ORPHA:99889
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Abnormality of the urinary system	OMIM:267430
Acute Monoblastic/Monocytic Leukemia	Oliguria, Central hypothyroidism, Weight loss	ORPHA:514
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly	OMIM:620296
22Q11.2 Duplication Syndrome	Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis	ORPHA:1727
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Purpura, Petec...	ORPHA:91138
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Omphalocele, Bifid uterus, Hyd...	OMIM:236680
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Asci...	OMIM:235200
Hypoplasminogenemia	Abnormal fallopian tube morphology, Nephrolithiasis, Decreased level of plasminogen, Cervicitis, ...	ORPHA:722
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia	OMIM:276950
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Hypospadias	OMIM:220210
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney...	ORPHA:1225
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Frontometaphyseal Dysplasia	Elbow flexion contracture, Wrist flexion contracture, Interphalangeal joint contracture of finger...	ORPHA:1826
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc...	ORPHA:227
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Eales Disease	Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit...	ORPHA:40923
Amyloidosis, Finnish Type	Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis...	OMIM:105120
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Senior-Boichis Syndrome	Tubular luminal dilatation, Chronic kidney disease, Increased total bilirubin, Renal hypoplasia, ...	ORPHA:84081
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Joubert Syndrome 2	Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Failure to thrive, Renal insuf...	OMIM:608091
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Ventriculomegaly With Defects Of The Radius And Kidney	Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney	OMIM:602200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Ureteral duplication, Ureteral stenosis	OMIM:270100
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio...	ORPHA:314588
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Inguinal hernia, Hydrocele testis, Cong...	ORPHA:96181
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro...	ORPHA:79328
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Czeizel-Losonci Syndrome	Congenital megaureter, Hypoplastic nipples, Aplasia of the left hemidiaphragm, Ureteral agenesis,...	ORPHA:2437
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Hydronephrosis, Micropenis, Hypospadias	OMIM:616897
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Sple...	OMIM:153670
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis	ORPHA:261290
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Gray Platelet Syndrome	Abnormal bleeding, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Splenomegaly...	OMIM:139090
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Cryptor...	OMIM:300661
Kury-Isidor Syndrome	Hydronephrosis	OMIM:619762
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Abnormal urinar...	ORPHA:90037
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro...	OMIM:616028
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr...	ORPHA:79259
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi...	ORPHA:89938
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Omphalocele, Umbilical hernia, Megacystis, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:2241
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased...	ORPHA:542323
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Igg4-Related Aortitis	Hydronephrosis	ORPHA:449400
Craniofacial Microsomia 1	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic...	OMIM:164210
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Tricuspid regurgitation, Retinal ...	OMIM:620371
Vacterl/Vater Association	Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid...	ORPHA:887
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Large for gestational age, Ureteral duplication, Vesicoureteral ...	OMIM:614080
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hematuria, Retinal hemorrhage, Vasculitis in the skin, Proteinuria, ...	OMIM:192315
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Noonan Syndrome 4	Large for gestational age, Ureteral duplication, Hydronephrosis, Cryptorchidism	OMIM:610733
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Oliguria, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blo...	ORPHA:31824
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,...	ORPHA:79477
Scrub Typhus	Myocarditis, Abnormal bleeding, Lymphadenopathy, Hypotension, Splenomegaly, Renal insufficiency	ORPHA:83317
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Rest...	ORPHA:758
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, M...	OMIM:301056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr...	OMIM:235400
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Hypotension...	ORPHA:549
Familial Visceral Myopathy	Hydroureter, Vesicoureteral reflux, Camptodactyly of finger, Umbilical hernia, Megacystis, Hyperp...	ORPHA:2604
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato...	OMIM:606003
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis, Hepatomegaly	OMIM:620454
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af...	ORPHA:159
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, ...	OMIM:271520
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Vesicoureteral reflux, Hypo...	ORPHA:96169
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Trisomy 1Q	Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter	ORPHA:261344
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Renal duplication	OMIM:270420
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Camptodactyly of finger, Hydronephrosis, Cryp...	ORPHA:568
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Duplication of renal pelvis, Ureteral duplication, Endometrial carcinoma	ORPHA:457212
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
X-Linked Intellectual Disability Due To Gria3 Mutations	Hydronephrosis, Micropenis	ORPHA:364028
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Carpenter Syndrome 1	External genital hypoplasia, Hydroureter, Camptodactyly, Omphalocele, Precocious puberty, Obesity...	OMIM:201000
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Aminoaci...	OMIM:617913
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Axial malrotation of the kidney, Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Woodhouse-Sakati Syndrome	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to...	ORPHA:3464
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr...	ORPHA:2473
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Hyperca...	ORPHA:116
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu...	OMIM:604292
Retinoblastoma	Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leukemia	ORPHA:790
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c...	ORPHA:75565
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullar...	OMIM:254450
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Hepatomegaly	ORPHA:912
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto...	OMIM:607323
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Abnormal bleeding, Bili...	ORPHA:77259
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Microscopic Polyangiitis	Oliguria, Glomerulopathy, Hematuria, Renal insufficiency	ORPHA:727
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Micro Syndrome	Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis	ORPHA:2510
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Polycystic kidney dysplasia, Adrenal hypo...	OMIM:249000
Schwartz-Jampel Syndrome	Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Cachexia, Decreased bo...	ORPHA:800
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis	OMIM:619179
Atelis Syndrome 2	Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vitreous hemorrhage	OMIM:620185
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney	OMIM:306955
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Hypocalcem...	ORPHA:31826
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Hepatosplenomegaly, Duplicated collecting system	ORPHA:541423
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu...	OMIM:129900
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Inguinal hernia, Nephrolithiasis, Renal cyst, Abnormality of the u...	ORPHA:798
Johanson-Blizzard Syndrome	Hydronephrosis, Hypospadias, Hypoplasia of penis	ORPHA:2315
Microphthalmia, Syndromic 9	Pelvic kidney, Renal hypoplasia, Hydronephrosis, Renal malrotation, Horseshoe kidney	OMIM:601186
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation	OMIM:618541
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Left ventricular hypertrophy, Renal insuf...	OMIM:611209
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th...	OMIM:617666
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ...	OMIM:613812
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren...	ORPHA:391641
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestas...	OMIM:615895
Kleefstra Syndrome	Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ...	ORPHA:261494
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl...	ORPHA:131
3C Syndrome	Hydronephrosis, Hypospadias, Hypoplasia of penis	ORPHA:7
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop...	OMIM:146510
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Absence of renal corticomedullary differentiation, Umbilical hernia	OMIM:619758
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal renal morphology, Hydronephrosis, Hepatosplenomegaly, Splenomegaly, Microp...	ORPHA:1655
Chromosome 2P16.1-P15 Deletion Syndrome	Hydronephrosis, Micropenis	OMIM:612513
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Codas Syndrome	Abnormal dental enamel morphology, Hydroureter	ORPHA:1458
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney	OMIM:615873
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Decreased body weight, Oliguria, Reversibl...	ORPHA:90051
Visceral Myopathy 1	Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis	OMIM:155310
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
ERI1-related disease	Hydronephrosis, Vesicoureteral reflux	OMIM:608739
Pseudo-Torch Syndrome 2	Abnormal renal corticomedullary differentiation	OMIM:617397
Q Fever	Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal left ventricular...	ORPHA:781
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Splenomegaly, Hepatomegaly	OMIM:235255
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias	OMIM:616449
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Inguinal hernia, Abnormal renal mor...	OMIM:122470
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Ogden Syndrome	Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis	OMIM:300855
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage, Mitral val...	OMIM:177850
Neuromuscular Oculoauditory Syndrome	Wrist flexion contracture, Elevated circulating creatine kinase concentration, Multiple renal cys...	OMIM:618733
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Failure to thrive, Reduc...	OMIM:266920
Vici Syndrome	Ureteral atresia, Renal tubular acidosis	ORPHA:1493
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Vesicoureteral reflux, Corneal scarring, Renal cyst, Renal hypoplasia, Fail...	OMIM:618460
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Hyponatremi...	ORPHA:544482
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis	ORPHA:1358
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Spider...	ORPHA:2137
Tuberous Sclerosis 2	Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Hypothyroidism, Renal ang...	OMIM:613254
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob...	ORPHA:90038
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Mosaic Trisomy 9	Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney	ORPHA:99776
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus	OMIM:618280
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Micropenis	OMIM:617798
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	OMIM:311900
46,Xy Sex Reversal 7	Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo...	OMIM:233420
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Autosomal Recessive Hypophosphatemic Rickets	Hypophosphatemic rickets, Renal phosphate wasting, Hyperphosphaturia, Enthesitis, Abnormality of ...	ORPHA:289176
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Cat Eye Syndrome	Renal agenesis, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	OMIM:115470
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias	OMIM:616737
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Breast aplasia, Recurrent urinary tract infectio...	ORPHA:2036
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Doors Syndrome	Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Increased urine alpha-ketoglutara...	ORPHA:79500
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney, Nephrolithiasis	ORPHA:2953
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Fanconi Anemia	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, A...	ORPHA:84
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Degcags Syndrome	Abnormal renal medulla morphology, Hypospadias, Hiatus hernia, Recurrent urinary tract infections...	OMIM:619488
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hydronephrosis, Horseshoe kidney, Ectopic kidney, Vesicoureteral reflux	OMIM:235510
Fryns Syndrome	Large for gestational age, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, R...	OMIM:229850
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Renal cortical microcysts, Hydronephrosis, Albuminuria, Aminoaciduria	OMIM:214100
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux	ORPHA:2059
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Hydronephrosis, Splenomegaly, Hepatomegaly	OMIM:608779
White-Kernohan Syndrome	Hydroureter, Rectovaginal fistula, Hypothyroidism, Obesity, Hydronephrosis, Horseshoe kidney	OMIM:619426
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonary arterial hypertension, Pulmonic s...	OMIM:602782
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis	OMIM:618454
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Aortic regurgitation, Polyc...	ORPHA:84064
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Hydronephrosis, Hepatomegaly	OMIM:614921
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:261349
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus t...	OMIM:232300
Fraser Syndrome 3	Small scrotum, Hypoplasia of penis, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of th...	OMIM:617667
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Hydronephrosis, Micropenis	ORPHA:96092
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261552
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Hydronephrosis	ORPHA:101000
Mosaic Trisomy 8	Hydronephrosis, Vesicoureteral reflux	ORPHA:96061
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina	ORPHA:457284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis	OMIM:619351
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Cor triatriatum, Hypoplasia of the thymus, Pulmonary ...	OMIM:612541
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, Vesicoureteral reflux	OMIM:620663
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract	ORPHA:2995
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hydronephrosis, Micropenis, Hypospadias	OMIM:301040
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria	OMIM:619269
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormality of the kidney, Hydronephrosis, Hypoplasia of penis	ORPHA:847
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Hydronephrosis	OMIM:300968
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis	ORPHA:464311
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Increased blood pressure, Neurogenic bladde...	ORPHA:90324
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Hydronephrosis, Vesicoureteral reflux	OMIM:610443
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Peroxisome Biogenesis Disorder 4B	Ureterocele, Adrenal insufficiency	OMIM:614863
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar...	ORPHA:71493
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Fanconi Anemia, Complementation Group L	Renal hypoplasia, Aplasia of the uterus, Micropenis, Unilateral renal agenesis	OMIM:614083
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:250989
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis	ORPHA:2092
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Hydronephrosis, Micropenis, Vesicoureteral reflux	OMIM:618653
Rift Valley Fever	Hematemesis, Abnormal bleeding, Jaundice, Hematuria, Anemia, Melena, Gingival bleeding, Retinal h...	ORPHA:319251
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis	ORPHA:464306
Erdheim-Chester Disease	Dysuria, Renal insufficiency, Hydronephrosis	ORPHA:35687
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Alagille Syndrome 1	Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux...	OMIM:118450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux	ORPHA:453499
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis, Elbow flexion contracture, Hip ...	OMIM:619194
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, Splenomegaly	OMIM:115150
Hardikar Syndrome	Hematemesis, Intrahepatic bile duct dilatation, Hypertension, Cholestasis, Prolonged neonatal jau...	OMIM:301068
Poland Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting sys...	ORPHA:2911
Chand Syndrome	Imperforate hymen, Hydroureter	ORPHA:1401
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hydroureter, Hypospadias, Inguinal hernia,...	ORPHA:373
Au-Kline Syndrome	Dilatation of the renal pelvis, Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux	OMIM:616580
Early Infantile Epileptic Encephalopathy	Ureterocele, Precocious puberty, Failure to thrive, Umbilical hernia, Renal dysplasia, Micropenis	ORPHA:1934
Raine Syndrome	Hydronephrosis, Hydroureter	OMIM:259775
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropeni...	OMIM:309801
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus, Axial malr...	OMIM:274000
Proteus Syndrome	Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly	ORPHA:744
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias	OMIM:300712
Cardiofaciocutaneous Syndrome	Hydronephrosis	ORPHA:1340
Eec Syndrome	Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Urethral atresia	ORPHA:1896
Cousin Syndrome	Hydronephrosis	OMIM:260660
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditi...	ORPHA:342
Isolated Biliary Atresia	Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, ...	ORPHA:30391
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	ORPHA:2886
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias, Enuresis	ORPHA:96121
Opitz Gbbb Syndrome	Hypospadias, Vesicoureteral reflux, Hydronephrosis, Enlarged ovaries, Abnormality of the urinary ...	ORPHA:2745
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Distal Deletion 12Q	Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Congenital hy...	ORPHA:96149
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Meckel Syndrome	Ureteral duplication, Pancreatic cysts, Pancreatic fibrosis, Male pseudohermaphroditism, True her...	ORPHA:564
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Decreased glomerular fi...	ORPHA:91500
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Ureteral duplication, Inguinal hernia, Pancreatic hypoplasia, Ap...	OMIM:600001
Trisomy 8P	Nephrocalcinosis, Micropenis, Hydronephrosis, Fetal pyelectasis	ORPHA:264450
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cryptorchidism, Hydroureter	OMIM:610759
Cutis Laxa, Autosomal Recessive, Type Ic	Right ventricular hypertrophy, Multiple bladder diverticula, Hydronephrosis	OMIM:613177
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Neonatal insulin-dependent diabetes mellit...	ORPHA:2255
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect	OMIM:614653
Retinoblastoma	Vitreous hemorrhage, Leukemia	OMIM:180200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Micropenis, Hypospadias	ORPHA:163979
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Dubowitz Syndrome	Hydronephrosis, Hypospadias	ORPHA:235
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias	ORPHA:487796
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati...	ORPHA:466650
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal renal tubular aci...	ORPHA:2785
Apert Syndrome	Hydronephrosis	OMIM:101200
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:251260
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subdural hemorrhage, Retinal hemorrhage, Chronic kidney disease	ORPHA:25
Orofaciodigital Syndrome Type 1	Hydronephrosis, Multicystic kidney dysplasia, Proteinuria, Renal insufficiency	ORPHA:2750
3Mc Syndrome 1	Hydronephrosis	OMIM:257920
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Nephrolithiasis, Hydronephrosis, Renal duplication, Nephrocalcinosis, Micropenis	OMIM:268310
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis	ORPHA:1507
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ...	ORPHA:572333
Chime Syndrome	Abnormality of the kidney, Hydronephrosis	ORPHA:3474
Knobloch Syndrome 1	Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system	OMIM:267750
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormality of the ureter	ORPHA:141127
Yellow Fever	Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph...	ORPHA:2044
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Inguinal h...	ORPHA:709
Monosomy 22Q13.3	Renal dysplasia, Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux	ORPHA:48652
Granulomatosis With Polyangiitis	Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis	OMIM:608710
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, ...	OMIM:135900
Robinow Syndrome	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis	ORPHA:97360
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Hydroureter, Hypospadias, Dilatation of the bladder, Bicornuate uterus, Omphalo...	OMIM:265380
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Fetal pye...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Fetal pye...	ORPHA:363958
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypertension, Medullary nephrocalcinosis, Transient ischem...	ORPHA:51608
Familial Drusen	Macular hemorrhage	ORPHA:75376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Jacobsen Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:2308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hydronephrosis, Vesicoureteral reflux	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hydronephrosis, Vesicoureteral reflux	ORPHA:352665
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Skin Creases, Congenital Symmetric Circumferential, 2	Ureterocele, Small scrotum, Cryptorchidism, Hypospadias	OMIM:616734
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Hydroureter, Inguinal hernia, Abnormal dental enamel morphology, Abnor...	ORPHA:2273
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Lip telangiectasia, Cholestasis, Biliary cir...	OMIM:613471
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Ureteral duplication, Inguinal hernia, Labial hypoplasia, Hypopl...	OMIM:305600
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Cockayne Syndrome	Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder, Hypertension, ...	ORPHA:191
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,...	ORPHA:464
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Abnormal circulating calcium-phosphate regulating hormone concentratio...	ORPHA:2636
Intellectual Developmental Disorder, Autosomal Dominant 73	Hydroureter, Inguinal hernia, Flexion contracture, Premature adrenarche, Knee flexion contracture...	OMIM:620450
Bardet-Biedl Syndrome	Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi...	ORPHA:110
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Decreased body weight, Clitoral hypoplas...	OMIM:261540
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis	ORPHA:93271
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital posterior urethr...	OMIM:136140
Tetrasomy 9P	Recurrent urinary tract infections, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Microp...	ORPHA:3310
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:616268
1P36 Deletion Syndrome	Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis	ORPHA:1606
Proboscis Lateralis	Duplication of renal pelvis, Ureteral agenesis, Unilateral renal agenesis, External genital hypop...	ORPHA:141099
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hydronephrosis, Micropenis, Hepatomegaly	ORPHA:83617
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Hydronep...	ORPHA:353281
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	ORPHA:2363
Campomelic Dysplasia	Hydronephrosis, Hypospadias	OMIM:114290
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Omphalocele	ORPHA:2736
Charge Syndrome	Hydronephrosis, Micropenis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:138
Neu-Laxova Syndrome 1	Camptodactyly, Renal agenesis, Yellow subcutaneous tissue covered by thin, scaly skin, Bifid uter...	OMIM:256520
Robinow Syndrome, Autosomal Dominant 1	Hydronephrosis, Micropenis, Renal duplication	OMIM:180700
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Congenital adrenal hypoplasia, Arthrogryposis multiplex congen...	ORPHA:1662
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Adrenal hypoplasia, Limb joint contracture, Flexion contracture	OMIM:275210
Rubinstein-Taybi Syndrome 1	Hydronephrosis, Hypospadias	OMIM:180849
Incontinentia Pigmenti	Eosinophilia, Leukocytosis, Retinal hemorrhage	OMIM:308300
Wolf-Hirschhorn Syndrome	Hypospadias, Aplasia of the uterus, Precocious puberty, Failure to thrive, Cryptorchidism, Small ...	OMIM:194190
Liver Disease, Severe Congenital	Hepatomegaly, Hypospadias, Recurrent urinary tract infections, Alpha-aminobutyric aciduria, Hydro...	OMIM:619991
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:363700
Digeorge Syndrome	Unilateral renal agenesis, Hydronephrosis, Splenomegaly, Renal dysplasia, Renal insufficiency	OMIM:188400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux...	ORPHA:353277
Ehlers-Danlos Syndrome, Vascular Type	Inguinal hernia, Cervical insufficiency, Cryptorchidism, Cigarette-paper scars, Uterine prolapse,...	OMIM:130050
Pierson Syndrome	Hypertension, Retinal hemorrhage, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, S...	OMIM:609049
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hydronephrosis, Nephrolithiasis, Vesicoureteral reflux	ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Medullary nephrocalcinosis, Hydronephrosis, Hyperechogenic kidneys, Dark urine, Spl...	OMIM:619534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis	OMIM:620330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Elbow flexion contracture, Hy...	OMIM:276820
Charge Syndrome	Renal agenesis, Renal hypoplasia, Hydronephrosis, Micropenis, Horseshoe kidney	OMIM:214800
Genitopatellar Syndrome	Hydronephrosis, Micropenis, Multicystic kidney dysplasia	OMIM:606170
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Trichinellosis	Retinal hemorrhage	ORPHA:863
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Inguinal hernia, Cigarette-paper scars, Renovascular h...	ORPHA:286
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aplasia of the upper vagina, Hypospadias, Small scrotum, Camptod...	OMIM:601803
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Hydronephrosis	ORPHA:480880
Norrie Disease	Delayed puberty, Erectile dysfunction, Cachexia, Cryptorchidism, Failure to thrive, Diabetes mell...	ORPHA:649
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Hypospadias	OMIM:304120
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261537
Mowat-Wilson Syndrome	Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi...	ORPHA:2152
Acrofacial Dysostosis, Cincinnati Type	Hydronephrosis	OMIM:616462
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Urethrovaginal fistula, Hydronephrosis, Splenomegaly, Micropenis	OMIM:243800
Viss Syndrome	Hydronephrosis, Right ventricular hypertrophy	OMIM:619472
Microphthalmia, Syndromic 1	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Camptodactyly, Renal hypoplasia, Cryptorchidi...	OMIM:309800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Cerebral hemorrhage, Hemolytic a...	OMIM:175780
Sympathetic Ophthalmia	Retinal hemorrhage	ORPHA:79098
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Uterine rupture	ORPHA:60030

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 Adamts1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Adamts1.

There are 10 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.	PLoS genetics (March 2021)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC8018652
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC7263671
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.	Nature genetics (December 2019)	Adamts19^{tm4a(EUCOMM)Wtsi} Adamts19^{tm4b(EUCOMM)Wtsi}	PMC7197892
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC7338221
Genetic manipulation of ureteric bud tip progenitors in the mammalian kidney through an Adamts18 enhancer driven tet-on inducible system.	Developmental biology (November 2019)	Adamts18^{tm1(KOMP)Vlcg}	31734175
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC6671969
Morphogenesis of the kidney and lung requires branch-tip directed activity of the Adamts18 metalloprotease.	Developmental biology (June 2019)	Adamts18^{tm1.1(KOMP)Vlcg}	31242448
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC5827107
Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics.	Matrix biology : journal of the International Society for Matrix Biology (March 2015)	Adamts18^{tm1.1(KOMP)Vlcg}	25770910

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MGI Allele	Allele Type	Produced
Adamts1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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Gene: Adamts1 MGI:109249

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Adamts1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data