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Gene: Slc3a1 MGI:1195264

Gene Summary

Name:

solute carrier family 3, member 1

Synonyms:

NTAA, D2H

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased bone mineral content	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.09×10^-05
polycystic kidney	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.74×10^-05
decreased total body fat amount	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.15×10^-06
urinary bladder obstruction	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
small kidney	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal kidney morphology	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased spleen weight	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.29×10^-24
cystolithiasis	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
decreased mean corpuscular volume	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.46×10^-05
increased circulating HDL cholesterol level	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.45×10^-07
increased eosinophil cell number	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	8.21×10^-05
abnormal urinary bladder morphology	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased lean body mass	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.94×10^-05
abnormal spleen morphology	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
enlarged urinary bladder	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating cholesterol level	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.85×10^-07
enlarged spleen	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased kidney weight	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	3.16×10^-20
increased blood urea nitrogen level	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.25×10^-40
enlarged kidney	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Colon	Section images	heterozygote	50% (1 of 2)
Duodenum	Section images	heterozygote	50% (1 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Eye	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	100% (2 of 2)
Jejunum	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Pancreas	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	Not available
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	Not available
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

16 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

1 Images

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Human diseases caused by Slc3a1 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 Slc3a1 (3 diseases)
Human diseases predicted to be associated with Slc3a1 (1721 diseases)

The table below shows human diseases associated to Slc3a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693

The table below shows human diseases predicted to be associated to Slc3a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Dibasic Amino Aciduria I	Hyperlysinuria, Ornithinuria, Argininuria, Dibasicaminoaciduria	OMIM:222690
Hyperprolinemia, Type Ii	Prolinuria, Hyperglycinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid...	OMIM:239510
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria	ORPHA:419
Threoninemia	Hyperthreoninemia, Hyperthreoninuria	OMIM:273770
Saccharopinuria	Elevated circulating saccharopine concentration, Histidinuria, Elevated urinary saccharopine leve...	OMIM:268700
Lysine Malabsorption Syndrome	Hyperlysinuria, Renal tubular lysine transport defect	OMIM:247950
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Spastic Paraplegia 41, Autosomal Dominant	Lower limb muscle weakness, Urinary urgency	OMIM:613364
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Enuresis, Nocturnal, 1	Enuresis nocturna	OMIM:600631
Enuresis, Nocturnal, 2	Enuresis nocturna	OMIM:600808
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Carnosinemia	Carnosinuria	OMIM:212200
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia	ORPHA:147
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Urinary bladder sphincter dysfunction	ORPHA:284282
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Spastic Paraplegia 27, Autosomal Recessive	Spastic/hyperactive bladder	OMIM:609041
Primary Hyperoxaluria Type 2	Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Gracile Syndrome	Increased circulating iron concentration, Increased circulating ferritin concentration, Increased...	OMIM:603358
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
5-Oxoprolinase Deficiency	Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis	OMIM:260005
Sucrase-Isomaltase Deficiency, Congenital	Nephrolithiasis	OMIM:222900
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Homocarnosinosis	Carnosinuria	OMIM:236130
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Hydroxykynureninuria	Elevated urinary xanthurenic acid level, Elevated urinary 3-hydroxykynurenine level	OMIM:236800
Glutamate Formiminotransferase Deficiency	Positive ferric chloride test, Elevated urinary formiminoglutamic acid level, Aminoaciduria	OMIM:229100
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinemia	OMIM:238750
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Hyperhomocystinemia, Homocystinuria	OMIM:236250
Hyperprolinemia, Type I	Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria	OMIM:239500
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta...	OMIM:161900
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Autosomal Dominant Spastic Paraplegia Type 4	Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, Urinary urgency, ...	ORPHA:100985
Galactosemia Iii	Failure to thrive, Hypergalactosemia, Aminoaciduria, Galactosuria	OMIM:230350
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu...	ORPHA:567544
Argininemia	Hyperammonemia, Diaminoaciduria	ORPHA:90
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Autosomal Recessive Spastic Paraplegia Type 27	Spastic/hyperactive bladder	ORPHA:101007
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Saccharopinuria	Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal...	ORPHA:3124
Spastic Paraplegia 31, Autosomal Dominant	Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Urinary urgency	OMIM:610250
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:488594
Spastic Paraplegia 83, Autosomal Recessive	Urinary urgency	OMIM:619027
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Renal tubular dysfunction	OMIM:606528
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Hartnup Disorder	Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria	OMIM:234500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Inguinal her...	OMIM:614376
Primary Hyperoxaluria Type 3	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ...	ORPHA:93600
Alpha-Methylacetoacetic Aciduria	Elevated urinary 2-methyl-3-hydroxybutyric acid level	OMIM:203750
Azoospermia, Obstructive, With Nephrolithiasis	Nephrolithiasis	OMIM:301060
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Nephrolithiasis, Renal tubular acidosis	OMIM:267300
Spastic Paraplegia 72A, Autosomal Dominant	Urinary bladder sphincter dysfunction	OMIM:615625
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acidemia	OMIM:613646
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Rickets, Glycosuria, Hyperphosphaturia, Elevated circulating cr...	OMIM:615605
Xanthinuria, Type Ii	Increased urinary hypoxanthine level, Renal insufficiency, Xanthinuria, Nephrolithiasis	OMIM:603592
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Hypertryptophanemia	Limited elbow extension, Tryptophanuria, Camptodactyly of finger, Hypertryptophanemia, Generalize...	OMIM:600627
Nephronophthisis 18	Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ...	OMIM:615862
Autosomal Spastic Paraplegia Type 72	Urinary bladder sphincter dysfunction	ORPHA:401849
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio...	OMIM:605850
Spastic Paraplegia 13, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:605280
Methionine Malabsorption Syndrome	Positive ferric chloride test, Aminoaciduria	OMIM:250900
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Senior-Loken Syndrome 9	Osteopenia, Nephronophthisis, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephritis	OMIM:616629
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis	OMIM:620374
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome...	ORPHA:329918
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal pyelectasis, Megacystis	OMIM:619365
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Aminoaciduria	ORPHA:664
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Idiopathic Hypercalciuria	Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis	ORPHA:2197
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur...	ORPHA:79233
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Phenylketonuria	Osteopenia, Phenylalaninuria, Hyperphenylalaninemia, Eczematoid dermatitis	ORPHA:716
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Camptodactyly, Renal hypoplasia, Failure to thrive, Flexion contract...	OMIM:604273
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Hematuria, Nephrolithiasis, Nephropathy	ORPHA:2196
Spastic Paraplegia 19, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:607152
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease...	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Vesicoureteral Reflux 8	Recurrent urinary tract infections, Vesicoureteral reflux, Duplicated collecting system	OMIM:615963
Spastic Paraplegia 12, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:604805
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis...	OMIM:616026
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Failure to thrive, Stage 5...	OMIM:251000
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis	OMIM:143880
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypospadias, Nephrolithiasis, Hypoplasia of penis	ORPHA:1816
Dent Disease 1	Low-molecular-weight proteinuria, Rickets, Renal phosphate wasting, Delayed epiphyseal ossificati...	OMIM:300009
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick...	ORPHA:1652
Hyperlysinemia, Type I	Argininuria, Hyperlysinemia, Ornithinuria, Hypoornithinemia, Hyperlysinuria, Homocitrullinuria, C...	OMIM:238700
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Uric acid nephrolithias...	ORPHA:411536
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula...	ORPHA:85450
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Argininosuccinic Aciduria	Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Aminoaciduria, Hypoargininemia	ORPHA:23
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Flexion contracture, Renal dysplasia, Elevated c...	OMIM:616733
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis	OMIM:216950
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Rickets, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy...	OMIM:134600
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Hyperuricemia, Hprt-Related	Hyperuricosuria, Nephrolithiasis, Renal insufficiency	OMIM:300323
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a...	OMIM:613388
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine succinate level, Elevated urine N-acetylaspartic acid level, Increased urine alph...	OMIM:618384
Hyperparathyroidism 4	Nephrolithiasis	OMIM:617343
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Pr...	OMIM:613404
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul...	OMIM:619468
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Failure to thrive, Methylmalonic aci...	OMIM:309541
Galactosemia I	Increased level of galactitol in red blood cells, Galactosuria, Increased level of galactitol in ...	OMIM:230400
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tra...	ORPHA:93598
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency	OMIM:260000
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal...	OMIM:619902
Rudiger Syndrome	Ureterovesical stenosis, Micropenis, Flexion contracture	OMIM:268650
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephroc...	OMIM:179800
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Failure t...	OMIM:617595
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar...	ORPHA:93126
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H...	ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla...	ORPHA:228308
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia	OMIM:605899
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicit...	OMIM:611555
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypercalciuria, Hyperphosphaturia, Nephrolithiasis, Renal phosphate wasting	OMIM:612286
Ulna Metaphyseal Dysplasia Syndrome	Nephrolithiasis	ORPHA:1837
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hyperalaninemia, Tubulointerstitial nephritis	OMIM:614582
Spastic Paraplegia 36, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary urgency	OMIM:613096
Spastic Paraplegia 37, Autosomal Dominant	Urinary incontinence, Urinary urgency	OMIM:611945
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminuria, Hyperglutaminemia, Alaninuria, Lac...	OMIM:616299
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Nephrolithiasis, Renal phosphate wasting	OMIM:612287
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa...	OMIM:614859
Autosomal Dominant Spastic Paraplegia Type 13	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	ORPHA:100994
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Sarcosinemia	Hypersarcosinemia, Hypersarcosinuria	ORPHA:3129
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency	OMIM:618878
Hypouricemia, Renal, 2	Nephrolithiasis	OMIM:612076
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Urethral valve, ...	OMIM:236730
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Aminoaciduria	OMIM:609560
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Xanthinuria, Type I	Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy	OMIM:278300
Familial Expansile Osteolysis	Pathologic fracture, Thin bony cortex, Hydroxyprolinuria, Osteolysis	OMIM:174810
Fanconi-Bickel Syndrome	Rickets, Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfun...	OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total...	OMIM:619868
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Hereditary Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter	ORPHA:30
Phenylketonuria	Increased level of hippuric acid in urine, Hyperphenylalaninemia, Elevated urinary phenylpyruvic ...	OMIM:261600
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ...	OMIM:603278
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Renal tubular acidosis, Failure to thrive, Nephr...	OMIM:208085
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Aminoaciduria	ORPHA:1933
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sagittal craniosynostosis, Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Renal Tubular Acidosis Iii	Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis	OMIM:267200
Spastic Paraplegia 8, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf...	OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Distal lower limb a...	OMIM:182600
Intellectual Developmental Disorder, X-Linked 90	Enuresis	OMIM:300850
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder	OMIM:300076
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Myopathy	ORPHA:2571
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Splenomegaly, Lipodystroph...	OMIM:608776
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Glutathionuria	Glutathionuria, Urinary incontinence	OMIM:231950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph...	OMIM:162000
Oligomeganephronia	Congenital diaphragmatic hernia, Abnormal nephron morphology, Elevated circulating creatinine con...	ORPHA:2260
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Renal Tubular Acidosis, Proximal	Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea...	OMIM:179830
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Failure t...	OMIM:232700
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Rickets, Osteopenia, Generalized aminoaciduria, Renal tubular acidosis, Hyp...	ORPHA:2088
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated circulating gamma-aminobutyric acid concentration, Elevated urinary 4-hydroxybutyric aci...	OMIM:271980
Flotch Syndrome	Nephrolithiasis	ORPHA:2045
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hyperammonemia, Organic aciduria, Failure to thrive i...	ORPHA:6
Tyrosinemia, Type Ii	Hypertyrosinemia, Elevated urine N-acetyltyrosine level, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Sebocystomatosis	Nephrolithiasis	ORPHA:841
Cystinosis	Rickets, Hypokalemia, Nephropathy, Failure to thrive, Proteinuria, Hypophosphatemia, Renal insuff...	ORPHA:213
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Failure to thrive, Hypomethioninemia...	OMIM:236270
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous...	OMIM:612526
Spastic Paraplegia, Ataxia, And Mental Retardation	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary ...	OMIM:607565
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Macdermot-Winter Syndrome	Camptodactyly of finger, Hydronephrosis	OMIM:247990
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Pyruvate Dehydrogenase Phosphatase Deficiency	Hyperprolinemia, Hyperalaninemia, Lacticaciduria	ORPHA:79246
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Spastic Paraplegia 89, Autosomal Recessive	Functional abnormality of the bladder	OMIM:620379
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Rickets, Reduced bone mineral density, Hypocitraturia, Decrease...	ORPHA:18
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Elevated cir...	ORPHA:275555
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Urinary incontinence, Urinary ur...	ORPHA:444099
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Hyd...	ORPHA:85285
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Increased bone mineral density, Cort...	OMIM:620366
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ...	ORPHA:400
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency	ORPHA:54057
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Spastic Paraplegia 10, Autosomal Dominant	Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf...	OMIM:604187
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytope...	OMIM:226990
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy, Nephrolithiasis, Cystine crystalluria, Cystinuria	OMIM:606407
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypergalactosemia, Increased level of galactitol in urin...	ORPHA:79237
Spastic Paraplegia 30, Autosomal Dominant	Lower limb amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction	OMIM:610357
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa...	ORPHA:488627
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Severe Canavan Disease	Elevated urine N-acetylaspartic acid level	ORPHA:314911
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Pustule, Infectious encephali...	ORPHA:139402
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
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re...	ORPHA:183
Sulfite Oxidase Deficiency, Isolated	Decreased urinary sulfate, Elevated circulating creatine kinase concentration, Eczematoid dermati...	OMIM:272300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Nephrolithiasis, Generalized amyotrophy, Weakness of facial musculature...	ORPHA:352447
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc...	OMIM:248190
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis	OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc...	OMIM:239000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Lead Poisoning	Cranial hyperostosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	ORPHA:330015
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,...	OMIM:619802
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro...	OMIM:191800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, P...	ORPHA:37042
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb amyotrophy, Hand muscle weakness, Urinary urgency	ORPHA:320355
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Chorioretinal...	ORPHA:91500
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Nephrolithiasis	OMIM:620023
Leber Congenital Amaurosis 1	Hyperthreoninemia, Hyperthreoninuria	OMIM:204000
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary urgency, Urinary bladder s...	OMIM:300266
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Pancreatitis, Hypera...	OMIM:603471
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria, Hyperuricosuria	ORPHA:411543
Hyperprolinemia Type 2	Prolinuria, Hyperalaninemia, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria...	ORPHA:79101
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Senior-Loken Syndrome	Abnormality of bone mineral density, Stage 5 chronic kidney disease, Nephronophthisis, Chronic ki...	ORPHA:3156
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infecti...	OMIM:613095
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Parkinson Disease 6, Autosomal Recessive Early-Onset	Urinary urgency	OMIM:605909
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Inguinal hernia, Camptodactyly, Enuresis, Sagittal craniosynostosis, T...	ORPHA:459061
Histidinemia	Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria	OMIM:235800
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ...	ORPHA:411634
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Spinocerebellar Ataxia Type 25	Facial myokymia, Urinary urgency	ORPHA:101111
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic...	ORPHA:107
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin...	OMIM:617872
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Calcium oxalate nephrolithiasis	OMIM:248000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,...	OMIM:613845
Vesicoureteral Reflux, X-Linked	Vesicoureteral reflux	OMIM:314550
Vesicoureteral Reflux 1	Vesicoureteral reflux	OMIM:193000
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Multiple Sclerosis, Susceptibility To	Urinary incontinence, Urinary hesitancy	OMIM:126200
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti...	ORPHA:33001
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Elbow flexion contracture, Flexion contracture, Hydroxyprolinuria, K...	OMIM:609220
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Acute hepatitis, Hyperammonemia, Failure to thrive, Homocitrullinuria	OMIM:238970
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin...	OMIM:608836
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, Increased blood ur...	ORPHA:251004
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300554
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nephrolithiasis	OMIM:619827
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Failure to thrive, Sm...	OMIM:612073
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner...	ORPHA:47159
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hypercalciuria, Recurrent fractures, Hyperphosphaturia, Failure to thrive, ...	OMIM:239200
Netherton Syndrome	Ectopic kidney, Skin rash, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Aminoaciduria	ORPHA:634
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Rickets, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanc...	ORPHA:411629
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Pneumonia, Hematuria, Decreased glomerular filtration rate, Ac...	ORPHA:340
Glutaric Acidemia Type 3	Glutaric aciduria, Failure to thrive, Abnormal circulating enzyme concentration, Elevated circula...	ORPHA:35706
Histidinemia	Hyperhistidinemia, Histidinuria	ORPHA:2157
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Elevated circulating creatine kinase concentration	OMIM:255100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hypon...	OMIM:617913
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Small Cell Carcinoma Of The Bladder	Recurrent urinary tract infections, Dysuria, Hematuria	ORPHA:284400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma	OMIM:618272
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Sjogren Syndrome	Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis	OMIM:270150
Coach Syndrome 3	Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr...	OMIM:619113
Hypocalciuric Hypercalcemia, Familial, Type Ii	Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypocalci...	OMIM:145981
Spastic Paraplegia 4, Autosomal Dominant	Urinary incontinence, Lower limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf...	OMIM:182601
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Failure to thrive, Umbilical hernia, Aminoaciduria, Ketonuria	OMIM:614520
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Stiff Skin Syndrome	Nephrolithiasis	ORPHA:2833
Autosomal Recessive Spastic Paraplegia Type 48	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:306511
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Lesch-Nyhan Syndrome	Hyperuricemia, Hematuria, Gout, Renal insufficiency	ORPHA:510
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalciuria, Nephrolithiasis, Hypocalciuria	OMIM:145980
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory inf...	ORPHA:49041
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre...	OMIM:248250
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycy...	OMIM:610199
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Hyperglycinemia, Arthrogryposis multiplex congenita	OMIM:615330
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis	ORPHA:157215
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Ureteral dysgenesis	OMIM:274265
Bardet-Biedl Syndrome 19	Renal hypoplasia, Obesity, Hydronephrosis, Renal insufficiency	OMIM:615996
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Truncal obesity, Hyperuricemia, Ch...	OMIM:203800
Argininosuccinic Aciduria	Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int...	OMIM:207900
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Nephrotic syndrome, Eosinophilia, Failure to thrive, Hepatosplen...	OMIM:618999
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Cholestasis, Nephr...	ORPHA:85445
Autosomal Dominant Spastic Paraplegia Type 3	Lower limb hypertonia, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary u...	ORPHA:100984
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Hyperglycinuria, Seborrheic dermatitis, Organic ac...	OMIM:210210
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc...	OMIM:264700
Methylmalonyl-Coa Epimerase Deficiency	Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, ...	OMIM:251120
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:35710
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Decreased urinary sulfate, Hypouricemia, Increased urinary taurine, Decreased urinar...	OMIM:252150
Peroxisome Biogenesis Disorder 2A (Zellweger)	Polycystic kidney dysplasia, Elevated circulating long chain fatty acid concentration, Camptodact...	OMIM:214110
Rhyns Syndrome	Osteopenia, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Bardet-Biedl Syndrome 10	Obesity, Renal insufficiency, Renal cyst	OMIM:615987
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Beta-alaninuria, Elevated urinary ...	OMIM:614105
Laron Syndrome	Hypercholesterolemia, Osteoarthritis, Truncal obesity, Hypoplasia of penis	ORPHA:633
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis	OMIM:615398
Propionic Acidemia	Hyperammonemia, Organic aciduria	ORPHA:35
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Pollakisuria, Vesicoureteral reflux, Congenital posterior urethral valve, U...	OMIM:618612
Meckel Syndrome 13	Polycystic kidney dysplasia, Flexion contracture	OMIM:617562
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi...	OMIM:154230
Propionic Acidemia	Increased level of hippuric acid in urine, Pancreatitis, Hyperglycinuria, Osteoporosis, Eczematoi...	OMIM:606054
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
D-Glyceric Aciduria	Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl...	ORPHA:941
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Neuromyelitis Optica Spectrum Disorder	Functional abnormality of the bladder	ORPHA:71211
Drug-Induced Lupus Erythematosus	Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:231111
Multiple Mitochondrial Dysfunctions Syndrome 1	Hyperglycinuria, Alpha-aminoadipic aciduria, Failure to thrive, Increased urine alpha-ketoglutara...	OMIM:605711
Interstitial Cystitis	Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the...	ORPHA:37202
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Inguinal hernia, Hyperhomocystinemia, Homocystinuria, Failure to thrive, ...	OMIM:614857
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Homocystinuria, Limitation of joint mobility,...	OMIM:236200
Isovaleric Acidemia	Elevated urinary isovalerylglycine level, Hyperglycinuria	OMIM:243500
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Failure to thrive, Mic...	OMIM:220120
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Medium chain dicarboxylic aciduri...	OMIM:201450
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Lysinuric Protein Intolerance	Oroticaciduria, Pancreatitis, Recurrent fractures, Osteoporosis, Hyperammonemia, Failure to thriv...	OMIM:222700
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Camptodactyly,...	ORPHA:168569
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype...	OMIM:615387
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Molybdenum Cofactor Deficiency, Complementation Group C	Hypertaurinemia, Hypocystinemia, Increased urinary taurine, Hypouricemia	OMIM:615501
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Failure to thrive, Abnormal circulating tyrosine concentration, 4...	ORPHA:2118
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss	ORPHA:90060
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Cirrhosis,...	OMIM:276700
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Aminoaciduria, Renal Fanconi syndr...	ORPHA:436271
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H...	OMIM:232200
Autosomal Dominant Spastic Paraplegia Type 36	Urinary incontinence, Urinary urgency	ORPHA:320365
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Gitelman Syndrome	Hypermagnesemia, Urinary incontinence, Chondrocalcinosis, Hypokalemia, Renal tubular acidosis, Re...	ORPHA:358
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Recurrent ski...	OMIM:617744
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Failure to thrive, Renal insufficiency	ORPHA:28
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb muscle weakness, Urinary urgency	ORPHA:171612
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Aminoaciduria, Increased urinary O-linked sialo...	ORPHA:812
Castleman Disease	Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con...	ORPHA:160
Congenital Myopathy 19	Congenital contracture, Hydronephrosis, Renal atrophy	OMIM:618578
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hyperhomocystinemia, Homocystinuria, Failure to thrive, Hypomethioninemia, Methylmalonic aciduria	OMIM:250940
Cystinosis, Nephropathic	Generalized aminoaciduria, Hypophosphatemia, Stage 5 chronic kidney disease, Rickets, Reduced blo...	OMIM:219800
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Failure to thrive, Thrombocytop...	OMIM:304790
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Periportal fibrosis, Polycystic kidney dysplasia, Decreased skul...	OMIM:263210
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Polycystic kidney...	ORPHA:26791
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive, Hydronephrosis, Umbili...	OMIM:619218
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive	OMIM:615863
2,4-Dienoyl-Coa Reductase Deficiency	Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Hyperlysinemia, Failure to...	OMIM:616034
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Autosomal Dominant Spastic Paraplegia Type 8	Peroneal muscle atrophy, Urinary incontinence, Lower limb muscle weakness, Urinary urgency	ORPHA:100989
Leukonychia Totalis	Nephrolithiasis	ORPHA:2387
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Urinary urgency	ORPHA:314603
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hyperalaninemia, Aciduria	OMIM:617950
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys...	OMIM:137920
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Canavan Disease	Increased circulating N-acetylaspartic acid concentration, Elevated urine N-acetylaspartic acid l...	OMIM:271900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fi...	ORPHA:79259
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Increased blood urea nitrogen, Microscopic ...	OMIM:274150
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hyperglycinemia, Lacticaciduria	OMIM:619063
Congenital Disorder Of Glycosylation, Type Iip	Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circu...	OMIM:616829
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi...	OMIM:600740
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Hip contracture, Splenomegaly, Eosinophilia	OMIM:616651
Cloacal Exstrophy	Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux...	ORPHA:93929
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Knee flexion contracture, Hypercholest...	OMIM:620454
Roifman Syndrome	Lymphadenopathy, Delayed proximal femoral epiphyseal ossification, Hip contracture, Hepatosplenom...	ORPHA:353298
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Decreased body weight, Decreased calvarial ossification, Hydronephrosis, C...	OMIM:618265
Roussy-Lévy Syndrome	Distal amyotrophy, Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Skeletal...	ORPHA:3115
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnor...	ORPHA:100024
Lowe Oculocerebrorenal Syndrome	Pathologic fracture, Joint hypermobility, Stage 5 chronic kidney disease, Keloids, Rickets, Corne...	OMIM:309000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Failure to thrive, Hyperlipidemia, Ketonuria	ORPHA:2089
Spastic Paraplegia 80, Autosomal Dominant	Urinary urgency	OMIM:618418
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Liver abscess, Bone cyst, Abnormal bladder morphology, Abnormal sp...	ORPHA:284
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Decreased circulating ca...	ORPHA:79159
Primary Pulmonary Hypoplasia	Abnormal hemidiaphragm morphology, Ureteral stenosis	ORPHA:2257
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Ne...	OMIM:608022
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ...	OMIM:620085
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ...	ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Aminoaciduria, Renal Fanconi syndr...	OMIM:220110
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, Hydroxyprolinuria, Sclero...	OMIM:602080
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Metacarpal osteolysis, Osteopenia, Carpal osteolysis, Metatarsal...	OMIM:166300
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Caroli Syndrome	Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit...	ORPHA:480520
Yao Syndrome	Nephrolithiasis	OMIM:617321
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration	ORPHA:35878
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis, Weight loss, Elevated circulating C-reactive protein concentra...	ORPHA:449400
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Marcus-Gunn Syndrome	Nephrolithiasis	ORPHA:91412
Bardet-Biedl Syndrome 16	Renal cyst, Renal agenesis, Obesity, Renal dysplasia, Stage 5 chronic kidney disease, Renal insuf...	OMIM:615993
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropelvic junction ob...	ORPHA:2438
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal...	ORPHA:2924
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Helix Syndrome	Polyuria, Renal insufficiency, Nephrolithiasis, Hypocalciuria	OMIM:617671
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ...	ORPHA:91547
Glycogen Storage Disease V	Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine, Hyperuricemia	OMIM:232600
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Nephronophthisis 9	Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis	OMIM:613824
6P22 Microdeletion Syndrome	Hernia, Hydronephrosis	ORPHA:251046
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Hypertyrosinemia, Failure to thrive, Aminoaciduria, Tubulointerstitial nephritis, La...	OMIM:124000
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Fumarase Deficiency	Bilateral fetal pyelectasis, Hyperbilirubinemia, Necrotizing enterocolitis, Reduced subcutaneous ...	OMIM:606812
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:614870
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Nephrolithiasis, Achilles tendon calcification	OMIM:617994
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Inguinal hernia, Long penis, Polycystic kidney dysplasia, Abnormal loca...	ORPHA:1988
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites...	ORPHA:2070
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Pancre...	ORPHA:247585
Systemic Lupus Erythematosus	Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis	OMIM:152700
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hyperhomocystinemia, Cystathioninuria, Homocystinuria, Skin rash, Stomati...	OMIM:277380
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc...	ORPHA:289157
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Decreased body weight, Nephroptosis	OMIM:617564
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Hypospadi...	OMIM:614866
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia, Delayed ossification of carpal bones, Osteoporosis...	OMIM:184260
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Hypomethioninemia, Methylmalonic aci...	OMIM:277410
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Intermediate Uveitis	Optic neuritis, Anterior uveitis, Macular scar, Psoriasiform dermatitis, Tubulointerstitial nephr...	ORPHA:279914
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein...	ORPHA:261222
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria	OMIM:617184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Flexion contracture, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthinuria, Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary ...	OMIM:252160
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary incontinence, Urinary bladder sphincter dysfunction	ORPHA:206583
Temple Syndrome	Hypertriglyceridemia, Recurrent otitis media, Truncal obesity, Obesity, Flexion contracture, Join...	OMIM:616222
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid...	ORPHA:79240
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia, Hyperprolinemia, Lacticaciduria	OMIM:619003
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Small thenar eminence, Chordee, Ureterop...	OMIM:140000
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis	OMIM:613670
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal...	ORPHA:90041
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Low plasma citrulline, Hyperalaninemia, Elevate...	OMIM:615751
Plasminogen Deficiency, Type I	Nephritis, Nephrolithiasis	OMIM:217090
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Obesity, Osteoarthritis, Acne, Hyper...	ORPHA:77296
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cranioectodermal Dysplasia 1	Inguinal hernia, Hypocalcemia, Stage 1 chronic kidney disease, Osteoporosis, Enamel hypoplasia, C...	OMIM:218330
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega...	OMIM:607616
Cocaine Intoxication	Acute kidney injury, Hematuria, Colitis, Elevated circulating creatine kinase concentration, Prot...	ORPHA:90068
Immunodeficiency 88	Eosinophilia	OMIM:619630
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Overweight, Hypercholesterolemia	ORPHA:401923
Syndromic Diarrhea	Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Inguinal hernia, Polycystic kidney dysp...	ORPHA:84064
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf...	ORPHA:223
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Organic aciduria	OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,...	OMIM:619055
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Nocturia, Urinary hesitancy, Urinary urgency	OMIM:609727
Lesch-Nyhan Syndrome	Nephrocalcinosis, Hyperuricosuria, Nephrolithiasis	OMIM:300322
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he...	OMIM:210250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Ankle flexion contracture, Elevated circulating creatine kinase conc...	OMIM:618120
Wilson Disease	Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc...	OMIM:277900
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Omphalocele, Craniosynostosis, Hepatic fibro...	OMIM:200995
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Bone cyst, Failure to thrive, Increased C-peptide ...	ORPHA:528
Cog4-Cdg	Cirrhosis, Thrombocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Hypercholesterolemia	ORPHA:263501
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hyperammonemia, Failure to thrive, Hydronephrosis, Conjugated hyper...	OMIM:617093
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylc...	OMIM:210200
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Cellulitis, Elevated circulating creatinine concentration, Myocarditis, Hyp...	ORPHA:36234
Desmoid Tumor	Hydronephrosis, Limitation of joint mobility, Abnormality of the upper urinary tract, Osteolysis	ORPHA:873
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Thenar muscle atrop...	OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb amyotrophy, Lower limb muscle weakness, Urinary urgency	ORPHA:100999
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Ureterocele	Ureterocele, Duplicated collecting system	OMIM:191650
Multiple Myeloma	Osteopenia, Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, W...	ORPHA:29073
Alkaptonuria	Decreased glomerular filtration rate, Nephrolithiasis, Thickened Achilles tendon, Dark urine, Ele...	OMIM:203500
Urocanic Aciduria	Abnormal circulating histidine concentration, Urocanic aciduria	ORPHA:210128
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Epiphyseal stippling, Elevated circulating long chain fatty acid concentration, Fail...	OMIM:214100
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera...	OMIM:301110
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Polycystic kidney dysplasia, Camptodactyly,...	ORPHA:314588
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Vesicoureteral reflux, Renal hypoplasia, Failure to thrive, Hydronephrosis	OMIM:613735
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Tyrosinemia, Type Iii	4-hydroxyphenylacetic aciduria, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276710
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypercalciuria, Calcium nephrolithiasis, Renal phosphate wasting, Renal tubular dysfunction	OMIM:241530
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to thrive, Lymph no...	OMIM:602450
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Smith-Magenis Syndrome	Hypertriglyceridemia, Chronic otitis media, Renal hypoplasia/aplasia, Abnormality of the ureter, ...	ORPHA:819
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,...	OMIM:229600
Mucopolysaccharidosis, Type X	Left ventricular hypertrophy, Nephrolithiasis, Dermatan sulfate excretion in urine	OMIM:619698
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the urinary system, Abnormal renal morphology, Increased bod...	OMIM:182290
Pyruvate Dehydrogenase E3 Deficiency	Decreased circulating carnitine concentration, Hyperisoleucinemia, Hyperammonemia, Elevated circu...	ORPHA:2394
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat...	ORPHA:64753
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Joint hypermobility, Obesity, Recurrent otitis media, Hypercholesterolemia	ORPHA:254531
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k...	OMIM:606966
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Upper limb muscle weakness, Urinary urgency, Lower limb hypertonia, Low...	ORPHA:99013
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria...	OMIM:277400
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Aminoaciduria	OMIM:614946
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Craniosynostosis, Joint contracture of the hand	OMIM:618523
D-Lactic Aciduria With Gout	Elevated urine D-lactate level, Lacticaciduria	OMIM:245450
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Argininemia	Hyperargininemia, Hyperammonemia, Oroticaciduria, Diaminoaciduria	OMIM:207800
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis...	OMIM:610984
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Reduced bone mineral density, Hepatomegaly, Abnormality of the lymphatic sys...	ORPHA:1414
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia, Hepatic fibrosis	OMIM:614091
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu...	OMIM:613673
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Leukopenia, Proteinuria...	ORPHA:505248
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis	ORPHA:1046
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly...	ORPHA:486
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, ...	ORPHA:2169
Myh9-Related Disease	Nephritis, Nephropathy, Proteinuria, Renal insufficiency	ORPHA:182050
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he...	OMIM:618188
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst	OMIM:613390
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Wrist flexion contracture, Failure to thrive, Recurr...	OMIM:609465
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Failure to thrive,...	OMIM:269920
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells...	ORPHA:169160
Interstitial Lung And Liver Disease	Hyperammonemia, Failure to thrive, Aminoaciduria	OMIM:615486
Jeune Syndrome	Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Hydronephrosis	OMIM:619797
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp...	OMIM:618963
Distal Duplication 6P	Hernia, Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system	ORPHA:1745
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Cellulitis, Weight loss, Eosinophilia, Fasciitis	ORPHA:3165
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Renal cyst, P...	OMIM:109130
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypercholesterolemia	OMIM:620211
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Hyperlysinemia	Argininuria, Decreased urine alpha-ketoglutarate concentration, Hyperlysinemia, Hyperammonemia, H...	ORPHA:2203
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Upper limb muscle weakness, Urinary urgency, Urinary bladder sphincter dysf...	OMIM:607259
Autosomal Recessive Spastic Paraplegia Type 15	Functional abnormality of the bladder, Distal amyotrophy, Upper limb muscle weakness, Leg muscle ...	ORPHA:100996
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Hypopho...	ORPHA:534
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Elbow flexion contracture, Shoulder muscle hypoplasia, Wrist flexi...	ORPHA:1826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Splenome...	ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Cholestas...	ORPHA:79303
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia, Keloids	OMIM:314300
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration...	ORPHA:542323
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Flexion contrac...	ORPHA:261290
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Decreased muscle mass, Ar...	ORPHA:2953
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalciuria, Generalized osteoporosis, Hyperphosphaturia, Nephrocalcinosis, Hyperc...	ORPHA:99879
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary retention, Urinary incontinence, Dysuria, Abnormality of the urethra	ORPHA:2795
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys...	OMIM:223900
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, W...	ORPHA:79242
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Unilateral renal agenesis, Failure to thrive, Hydronephrosis, Small for ges...	OMIM:609757
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Elevated urine trihydroxycholestanoic acid level, Osteoporosis, Elevated circulating...	OMIM:266510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Hypoalbumine...	OMIM:617021
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Abnormal medullary pyramid morphology, Recurrent aspiration pneumonia, ...	ORPHA:79243
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Urinary incontinence, Di...	OMIM:606071
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Spinocerebellar Ataxia 42	Urinary incontinence, Urinary urgency	OMIM:616795
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Skin rash, Proteinuria, Pneumonia, Elevated circulating creatinine concentr...	ORPHA:247691
Webb-Dattani Syndrome	Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hypernatremia, Obesity, Hydronephrosis	OMIM:615926
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Tubulointerstitial nephritis, Rheumatoid arthritis, Iridocyclitis, Atrophic gastritis...	ORPHA:227990
Primary Hyperoxaluria	Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Nephrocalcin...	ORPHA:416
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Scarring alopecia of scalp, Atrophic scars, Aplasia of the bladder, Elevate...	ORPHA:158684
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic st...	OMIM:614480
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Dicarboxylic aciduria, Increased serum...	OMIM:619355
Otopalatodigital Syndrome Type 2	Ureteral obstruction, Hydronephrosis, Hypospadias	ORPHA:90652
Spastic Paraplegia 84, Autosomal Recessive	Ankle flexion contracture, Leg muscle stiffness, Urinary urgency, Hip contracture, Knee flexion c...	OMIM:619621
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Left ventricular hypertrophy	OMIM:615474
Myopathy, Myofibrillar, 7	Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion contracture,...	OMIM:617114
Mandibuloacral Dysplasia	Hypertriglyceridemia, Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Increased adipos...	ORPHA:2457
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	3-Methylglutaconic aciduria, Failure to thrive, Hyperalaninemia, Hyperammonemia	OMIM:614739
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Nephrolithiasis	ORPHA:369929
Squalene Synthase Deficiency	Hypospadias, Knee flexion contracture, Increased circulating farnesol concentration, Elevated uri...	OMIM:618156
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Hypertyrosinemia, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria	OMIM:140350
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis	ORPHA:93160
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Isolated Epispadias	Epispadias, Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoureteral reflux	ORPHA:93928
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium clearance to creatinine clearance,...	ORPHA:405
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Distal amyotrophy, Urinary urgency, Urinary bladder sphincter dysfunction, ...	OMIM:270700
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Hydroureter, Renal insufficiency, Abnormality of the b...	ORPHA:2970
Heme Oxygenase 1 Deficiency	Hematuria, Elevated circulating C-reactive protein concentration, Nephritis, Proteinuria, Increas...	OMIM:614034
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Tubulointerstitial nephritis, Rheumatoid arthritis, Hashimoto thyroiditis, Iridocycli...	ORPHA:227982
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Ketonuria	OMIM:618857
Autosomal Dominant Spastic Paraplegia Type 10	Dupuytren contracture, Leg muscle stiffness, Urinary urgency, Upper limb amyotrophy, Spastic/hype...	ORPHA:100991
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Renal steatosis, Decreased HDL cholesterol concentration, Incr...	ORPHA:412
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Fai...	ORPHA:79128
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Hydronephrosis	ORPHA:3305
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Progressive Familial Intrahepatic Cholestasis	Jaundice, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Cholestasis, Failure to thriv...	ORPHA:172
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-feto...	OMIM:251880
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi...	ORPHA:2842
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb amyotrophy, Urinary incontinence, Lower limb muscle weakness, Urinary urgency	ORPHA:100993
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia	OMIM:620141
Leigh Syndrome	3-Methylglutaconic aciduria, Multiple joint contractures, Generalized aminoaciduria, Renal tubula...	ORPHA:506
Joubert Syndrome 15	Nephronophthisis, Micropenis	OMIM:614464
Sarcoidosis	Scarring, Keratoconjunctivitis sicca, Maculopapular exanthema, Hypercalciuria, Bone cyst, Parotit...	ORPHA:797
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis	ORPHA:36913
Teebi-Shaltout Syndrome	Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Cachexia, Elevated circulating creatine kinase concentration, Hyperammonem...	ORPHA:42
Rhyns Syndrome	Osteopenia, Nephronophthisis, Osteoporosis, Chronic kidney disease, Renal insufficiency	OMIM:602152
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Arima Syndrome	Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros...	OMIM:243910
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	OMIM:615952
Spinocerebellar Ataxia 25	Facial myokymia, Urinary urgency	OMIM:608703
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Decreased skull ossification, Multiple prenatal fractures, Hydronephrosi...	OMIM:616897
Cockayne Syndrome Type 1	Scarring, Hepatomegaly, Anemia, Foot joint contracture, Increased blood urea nitrogen, Enamel hyp...	ORPHA:90321
Autosomal Recessive Spastic Paraplegia Type 44	Urinary bladder sphincter dysfunction	ORPHA:320401
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Renal tubular acidosis, Transient hyperlipidemia, Elevated circulating cre...	OMIM:255120
Xq28 (MECP2) duplication	Functional abnormality of the bladder	DECIPHER:45
Bardet-Biedl Syndrome 20	Pancreatitis, Obesity, Proteinuria, Micropenis, Hypercholesterolemia	OMIM:619471
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2902
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density, Ketonuria	ORPHA:1399
Mitochondrial Dna Depletion Syndrome 18	Elevated urinary quinolinic acid level, Lacticaciduria	OMIM:618811
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Camptodactyly of finger, Hyp...	ORPHA:1194
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Spastic Paraplegia Type 2	Spastic/hyperactive bladder	ORPHA:99015
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Developmental And Epileptic Encephalopathy 111	Nephrolithiasis	OMIM:620504
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Hyponatre...	ORPHA:199299
Mucolipidosis Ii Alpha/Beta	Osteopenia, Enlarged kidney, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, ...	OMIM:252500
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Urinary incontinence, Urinary urgency	OMIM:612319
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Spastic Paraplegia 26, Autosomal Recessive	Distal lower limb amyotrophy, Lower limb muscle weakness, Upper limb muscle weakness, Urinary urg...	OMIM:609195
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Primary Sjögren Syndrome	Abnormality of the kidney, Keratoconjunctivitis sicca, Arteritis, Chronic active hepatitis, Myosi...	ORPHA:289390
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Increased blood urea nitrogen, Rhinitis, Nocturia, Elevated circ...	ORPHA:230
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Obesity, Renal cyst	OMIM:615982
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Elevated urinary gly...	OMIM:259900
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Hyperuricosuria	OMIM:300661
Proteus Syndrome	Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splen...	OMIM:176920
Bladder Exstrophy	Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor...	ORPHA:93930
Immunodeficiency 23	Failure to thrive, Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, ...	OMIM:615816
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Joubert Syndrome 37	Joint hypermobility, Obesity, Hydronephrosis, Micropenis	OMIM:619185
Granulomatosis With Polyangiitis	Glomerulopathy, Hematuria, Elevated circulating C-reactive protein concentration, Ureteral stenos...	ORPHA:900
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Decreased circulating carnitine concentration, Renal tubular acidosis, Organic acid...	ORPHA:431361
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Camptodactyly, Joint contracture of the hand	OMIM:179613
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Pediatric Systemic Lupus Erythematosus	Hematuria, Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Abnormality of the uri...	ORPHA:93552
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Arthrogryposis multiplex congenita	OMIM:607598
Pituitary Adenoma 4, Acth-Secreting	Nephrolithiasis, Skeletal muscle atrophy	OMIM:219090
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis	ORPHA:97289
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Hematuria, Hyperuricemia, Elevated circulating creatine kinase co...	OMIM:232800
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Acquired Central Diabetes Insipidus	Pollakisuria	ORPHA:95626
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Failure to thrive, Camptodactyly	OMIM:608104
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
Beckwith-Wiedemann Syndrome	Enlarged kidney, Renal cortical cysts, Vesicoureteral reflux, Diastasis recti, Nephrolithiasis, N...	OMIM:130650
Central Diabetes Insipidus	Nocturia	ORPHA:178029
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Recurrent otitis media, Truncal obesity, Obesity, Joint hypermobility, Hypercholesterolemia, Smal...	ORPHA:96184
Epidermal Nevus Syndrome	Osteopenia, Polycystic kidney dysplasia, Lipoma	ORPHA:35125
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Lymphangiectasis, Cirrhosis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Failure...	OMIM:602579
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Elevated...	OMIM:613313
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Multiple renal cysts, Spl...	ORPHA:116
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Anemia, Craniofacial hyperostosis	ORPHA:1802
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric...	ORPHA:79403
Paroxysmal Nocturnal Hemoglobinuria	Abnormal erythrocyte enzyme concentration or activity, Unconjugated hyperbilirubinemia, Reticuloc...	ORPHA:447
Senior-Boichis Syndrome	Tubular luminal dilatation, Chronic kidney disease, Increased total bilirubin, Renal hypoplasia, ...	ORPHA:84081
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria	OMIM:619053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Elevated circulating creatine k...	OMIM:301056
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter	OMIM:619431
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Osteoporosis	OMIM:620532
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Aspergillosis	Eosinophilia, Abnormality of the kidney, Hepatitis, Neutropenia	ORPHA:1163
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormality of the urinary system, Ureteral stenosis	ORPHA:2719
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag...	OMIM:613550
Chondrodysplasia Punctata 2, X-Linked Dominant	Epiphyseal stippling, Stippled calcification in carpal bones, Failure to thrive, Hydronephrosis, ...	OMIM:302960
ERI1-related disease	Osteopenia, Limited elbow extension, Inguinal hernia, Vesicoureteral reflux, Decreased body weigh...	OMIM:608739
Pandas	Enuresis	ORPHA:66624
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Spastic Paraplegia 78, Autosomal Recessive	Urinary urgency	OMIM:617225
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Joint hyp...	ORPHA:1475
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Joint hyperm...	OMIM:618494
Nail-Patella Syndrome	Reduced bone mineral density, Contracture of the distal interphalangeal joint of the fingers, Sta...	ORPHA:2614
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Arachnoiditis	Urinary bladder sphincter dysfunction	ORPHA:137817
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Methylmalonic acidemia, Elevated u...	OMIM:251100
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Simple Cryoglobulinemia	Abnormality of the kidney, Arthritis, Viral hepatitis, Nephrotic syndrome, Microscopic hematuria,...	ORPHA:91139
Alport Syndrome 1, X-Linked	Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Pro...	OMIM:301050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Oroticaciduria, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Failure to t...	OMIM:620358
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Pancreatitis, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Urinary incontinence, Neurogenic bladder, Functional abnormali...	ORPHA:79093
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenom...	OMIM:105200
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Wells Syndrome	Eosinophilia, Cellulitis	ORPHA:901
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous...	ORPHA:276280
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hyperalaninemia, Renal hypoplasia, Hyperammonemia	ORPHA:254913
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Obesity, Hydronephrosis, Joint hypermobility, Multicystic kidney dyspl...	OMIM:620511
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi...	OMIM:251110
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Proximal amyotrophy, Renal cell carcinoma, Nephrolithiasis	ORPHA:189427
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr...	OMIM:618885
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Ascites, Osteoporosis, Splenomegaly, Flexion contracture, Umbilica...	ORPHA:87876
Citrullinemia, Classic	Elevated plasma citrulline, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failur...	OMIM:215700
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Dicarboxylic aciduria, Increased circulating free fatty acid level, Hypophosphatemia...	OMIM:605911
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R...	ORPHA:99880
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ...	ORPHA:2484
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Alkaptonuria	Prostatitis, Reduced bone mineral density, Arthritis, Nephrolithiasis, Joint stiffness, Osteoarth...	ORPHA:56
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Lacticaciduria	OMIM:245400
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Unconjugated hyperbilirubi...	ORPHA:90038
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis, Inguinal hernia	OMIM:618950
Mesomelia-Synostoses Syndrome	Synostosis of carpal bones, Synostosis of joints, Joint stiffness, Hydronephrosis, Umbilical hern...	ORPHA:2496
15Q Overgrowth Syndrome	Abnormal renal morphology, Hydronephrosis, Nephroblastoma, Ureterovesical stenosis, Horseshoe kidney	ORPHA:314585
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Failure to thrive, Thromb...	ORPHA:90045
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria	OMIM:620089
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the kidney, Nephrolithiasis	ORPHA:521445
Split-Hand/Foot Malformation 3	Renal hypoplasia, Camptodactyly	OMIM:246560
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:614846
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Periodontitis, Obesity, Hydronephrosis, Dentinogenesis imperfecta, Moderate albuminuria	OMIM:619269
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Cachexia, Ascites, Hypernatriuria, Jaundice, Vacu...	ORPHA:275761
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc...	OMIM:614227
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hyperhomocystinemia, Homocystinuria, Cystathioninemia, Failure to thrive, Hypomethioninemia	ORPHA:395
Senior-Loken Syndrome 8	Stage 5 chronic kidney disease, Global glomerulosclerosis, Nephronophthisis, Glomerular subepithe...	OMIM:616307
Spastic Ataxia 3, Autosomal Recessive	Neurogenic bladder, Urinary urgency	OMIM:611390
Parathyroid Carcinoma	Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R...	ORPHA:143
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Increased level of hippuric acid in urine, Hyperuricemia, Decreased circulatin...	OMIM:246450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity, Nephronophthisis, Chronic kidney disease	OMIM:615630
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli...	ORPHA:86816
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst, Epiphys...	OMIM:614862
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Gapo Syndrome	Nephrolithiasis	ORPHA:2067
Beta-Thalassemia Intermedia	Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly...	ORPHA:231222
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Generalized aminoaci...	ORPHA:404454
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Failure to thrive, Ketonuria	OMIM:615453
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Urinary bladder sphincter dysfunction	ORPHA:53721
Coccidioidomycosis	Abnormality of the kidney, Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Panniculit...	ORPHA:228123
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Distal arthrogryposis, Diap...	OMIM:618975
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Hydronephrosis, Hypoplasia of penis	ORPHA:2083
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Renal Tubular Dysgenesis	Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts	ORPHA:3033
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Umbilical hernia, ...	OMIM:617237
Meckel Syndrome, Type 1	Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aspleni...	OMIM:249000
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated circulating creati...	OMIM:212140
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter,...	ORPHA:1834
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis	ORPHA:1926
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis	ORPHA:488613
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipo...	OMIM:248370
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Alagille Syndrome 1	Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux...	OMIM:118450
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Decreased circulating copper concentration, Accessory...	OMIM:300972
Johanson-Blizzard Syndrome	Hypospadias, Hypoplasia of penis, Hypoproteinemia, Failure to thrive, Hydronephrosis	ORPHA:2315
Phelan-Mcdermid Syndrome	Polycystic kidney dysplasia, Cellulitis, Vesicoureteral reflux, Abnormality of the kidney	OMIM:606232
Legius Syndrome	Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis	ORPHA:137605
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Eo...	ORPHA:449427
Kanzaki Disease	Aminoaciduria, Increased urinary O-linked sialopeptides	OMIM:609242
Spastic Paraplegia 9B, Autosomal Recessive	Urinary retention, Urinary incontinence, Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:616586
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myelofibrosis, M...	ORPHA:3260
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Hydronephrosis, Umbilical hernia	ORPHA:3079
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Silver-Russell Syndrome 1	Hypospadias, Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Neph...	OMIM:180860
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno...	OMIM:617514
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Epiphyseal stippling, Anterior rib punctate calcifications, Abnormall...	ORPHA:35173
Enamel-Renal Syndrome	Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure...	ORPHA:1031
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia, Hypospadias	OMIM:610644
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Low plasma citr...	OMIM:311250
Caudal Regression Syndrome	Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age...	ORPHA:3027
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N...	OMIM:214900
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Bladder Exstrophy And Epispadias Complex	Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney	OMIM:600057
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Omphalocele, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypert...	OMIM:601389
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Enuresis	ORPHA:289483
East Syndrome	Renal salt wasting, Enuresis, Renal sodium wasting, Renal magnesium wasting, Abnormal urinary ele...	ORPHA:199343
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Renal steatosis, Ketonuria	OMIM:261680
Pure Autonomic Failure	Urinary incontinence, Dysuria	ORPHA:441
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Osteolysis, Pancytope...	ORPHA:77259
Leprechaunism	Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, In...	ORPHA:508
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab...	ORPHA:2204
Loeffler Endocarditis	Eosinophilia, Weight loss, Left ventricular hypertrophy	ORPHA:75566
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi...	OMIM:300908
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Hydronephrosis	ORPHA:531151
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Pneumonia, Hypotriglyceridemia, Skin rash, Increased bo...	ORPHA:2298
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye...	ORPHA:457077
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Focal segm...	OMIM:194080
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Elbow flexion cont...	ORPHA:508533
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Sterile abscess	OMIM:618282
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Orthostatic Hypotension 1	Increased blood urea nitrogen, Nocturia, Hypomagnesemia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Osteopor...	OMIM:612562
Hypoplasminogenemia	Nephrolithiasis	ORPHA:722
22Q11.2 Deletion Syndrome	Hypospadias, Cholelithiasis, Inguinal hernia, Hypocalcemia, Polycystic kidney dysplasia, Abnormal...	ORPHA:567
Glutaric Acidemia I	Failure to thrive, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria	OMIM:231670
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome...	ORPHA:186
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Wolfram Syndrome 1	Neurogenic bladder, Hydronephrosis, Hydroureter	OMIM:222300
Alexander Disease Type Ii	Limb muscle weakness, Urinary bladder sphincter dysfunction	ORPHA:363722
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Enlarged kidney, Inguinal hernia, Chronic neutropenia, Camptodactyly, ...	ORPHA:500095
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Holocarboxylase Synthetase Deficiency	Skin rash, Organic aciduria, Hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-met...	OMIM:253270
Esophagitis, Eosinophilic, 2	Eosinophilia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Failure to thrive	OMIM:610247
Meckel Syndrome 14	Decreased calvarial ossification, Polycystic kidney dysplasia, Hepatic fibrosis	OMIM:619879
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint hypermobility, Slender build, Hydronephrosis, Micropenis	ORPHA:364028
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Esophagitis, Hydronephrosis, Decreased serum zinc, Joint hypermobility	ORPHA:541423
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency	OMIM:611773
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Erdheim-Chester Disease	Xanthelasma, Increased bone mineral density, Skin rash, Dysuria, Hydronephrosis, Weight loss, Ost...	ORPHA:35687
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Joint hemorrhage, Hematuria, Hyperuricemia	ORPHA:35909
Beta-Thalassemia	Reduced bone mineral density, Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Anem...	ORPHA:848
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Mody	Abnormality of the kidney, Hepatocellular adenoma, Large for gestational age, Abnormal circulatin...	ORPHA:552
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Purine Nucleoside Phosphorylase Deficiency	Elevated urinary inosine level, Hypouricemia, Recurrent urinary tract infections, Decreased urina...	OMIM:613179
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Periportal fibrosis, Omphalocele, Abno...	ORPHA:79328
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Vesicoureteral reflux, Leukocytosis, Hepatosplen...	OMIM:274000
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Inguinal hernia, Galactosuria, Organic aciduria, Aminoaciduria	ORPHA:85276
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Decreased circulating carnitine concentrat...	OMIM:201475
Osteogenesis Imperfecta, Type X	Nephrolithiasis	OMIM:613848
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Failure to thrive, T...	OMIM:616050
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Micropenis	OMIM:269150
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Hajdu-Cheney Syndrome	Osteopenia, Osteolytic defects of the phalanges of the hand, Hypospadias, Inguinal hernia, Polycy...	OMIM:102500
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc...	OMIM:267700
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Inguinal her...	OMIM:300855
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Elevated circulating creatine kinase concentration, Failure to thrive, Hyperammone...	OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 26	Lacticaciduria	OMIM:618247
Narcolepsy Type 1	Nocturia	ORPHA:2073
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Failure to thrive, Sp...	ORPHA:79301
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Liver Disease, Severe Congenital	Hypoproteinemia, Hyperammonemia, Umbilical hernia, Joint hypermobility, Hypospadias, Inguinal her...	OMIM:619991
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Hemolytic-uremic syndrome, Hypospadias, Camptodactyly, Hydronephrosis, Failure to thr...	OMIM:611209
22Q11.2 Duplication Syndrome	Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis	ORPHA:1727
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Joubert Syndrome 18	Intrahepatic biliary atresia, Camptodactyly, Horseshoe kidney, Renal cyst	OMIM:614815
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Tubulointerstitial nephritis, Weight loss, Keratoconjunctivitis sicca	ORPHA:79078
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Proximal tu...	OMIM:212065
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Craniosynostosis, Cellulitis, Eosinophilia	ORPHA:2314
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Spastic Paraplegia 20, Autosomal Recessive	Distal amyotrophy, Camptodactyly, Urinary urgency, Flexion contracture, Lower limb muscle weakness	OMIM:275900
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia, Pancreatitis, Renal insufficiency	ORPHA:27
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Orofaciodigital Syndrome Xvii	Renal hypoplasia, Decreased body weight, Micropenis	OMIM:617926
Prader-Willi Syndrome	Hypertriglyceridemia, Osteopenia, Decreased HDL cholesterol concentration, Osteoporosis, Obesity,...	OMIM:176270
Kury-Isidor Syndrome	Hydronephrosis, Recurrent otitis media	OMIM:619762
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Hypoplasia of penis, Tracheomalacia, Vesicoureteral reflux, Li...	ORPHA:261494
Frontometaphyseal Dysplasia 1	Limited elbow movement, Ankle flexion contracture, Hydroureter, Cervical C2/C3 vertebral fusion, ...	OMIM:305620
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Trisomy 1Q	Congenital diaphragmatic hernia, Congenital megaureter, Omphalocele, Camptodactyly of finger, Hyd...	ORPHA:261344
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu...	OMIM:266200
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Meacham Syndrome	Enlarged kidney, Accessory spleen, Aplasia of the left hemidiaphragm, Aplasia of the right hemidi...	OMIM:608978
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, EMG: myopathic abnormalities, Urinary bladder sphincter dysfunction, Increased v...	ORPHA:52430
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Hypospadias	OMIM:220210
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Microsporidiosis	Cachexia, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Weight loss, Pneumonia, Os...	ORPHA:2552
Trisomy 20P	Abnormality of the kidney, Reduced bone mineral density, Hypospadias, Inguinal hernia, Abnormalit...	ORPHA:261318
Free Sialic Acid Storage Disease	Reduced bone mineral density, Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuri...	ORPHA:834
Pudendal Neuralgia	Pollakisuria, Dysuria	ORPHA:60039
Czeizel-Losonci Syndrome	Congenital megaureter, Aplasia of the left hemidiaphragm, Ureteral agenesis, Hydronephrosis, Post...	ORPHA:2437
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis, Failure to thrive	OMIM:619179
Melnick-Needles Syndrome	Hydronephrosis, Ureteral stenosis	OMIM:309350
Glycogen Storage Disease Ic	Xanthelasma, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemia...	OMIM:232240
Liver Failure, Infantile, Transient	Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hypoalbuminemia, Lacti...	OMIM:613070
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Hydroureter, Camptodactyly, Omphalocele, Coronal craniosynostosis, O...	OMIM:201000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir...	ORPHA:71212
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Branchioskeletogenital Syndrome	Penoscrotal hypospadias, Bladder exstrophy, Micropenis, Ureteral stenosis	ORPHA:1299
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af...	ORPHA:99901
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Vesicoureteral reflux, Camptodactyly, Coronal craniosynostosis, Erysipelas, Hydro...	OMIM:235510
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Omphalocel...	OMIM:306955
Distal Deletion 12Q	Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral re...	ORPHA:96149
Encephalocraniocutaneous Lipomatosis	Lipoma, Pelvic kidney, Hydronephrosis, Multiple central nervous system lipomas, Subcutaneous lipoma	OMIM:613001
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live...	ORPHA:69663
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increas...	OMIM:618398
Zellweger Syndrome	Hypospadias, Epiphyseal stippling, Failure to thrive, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:912
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hep...	OMIM:607765
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Schwartz-Jampel Syndrome	Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, Nephrolith...	ORPHA:800
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cel...	OMIM:256550
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Cutaneous abscess, Failure to thrive, Decreased proportion of CD4-positiv...	OMIM:243700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Calvarial hyperostosis, Anemia of inadequate pro...	OMIM:612714
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Vacterl/Vater Association	Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Omphalocele, R...	ORPHA:887
Aredyld Syndrome	Lipoatrophy, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Developmental And Epileptic Encephalopathy 50	Hyperammonemia, Failure to thrive, Oroticaciduria, Renal tubular acidosis	OMIM:616457
Joubert Syndrome 39	Polycystic kidney dysplasia, Overweight, Joint contracture of the 5th finger	OMIM:619562
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Limb joint contracture	OMIM:620327
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Decreased adipose tissue around neck, Loss of subcutaneous adipos...	OMIM:606721
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Cholestas...	OMIM:614576
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Nephritis, Proteinuria, Conjugated h...	OMIM:208500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Delayed ossification of carpal bones, Lymphopenia	OMIM:617425
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Zaki Syndrome	Renal agenesis, Hydronephrosis, Congenital diaphragmatic hernia	OMIM:619648
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Cenani-Lenz Syndactyly Syndrome	Ectopic kidney, Metacarpal synostosis, Renal agenesis, Renal hypoplasia, Enamel hypoplasia, Radio...	OMIM:212780
Amyloidosis, Finnish Type	Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis...	OMIM:105120
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Tuberous Sclerosis Complex	Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Shagree...	ORPHA:805
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Hypocalcemia, Hypoproteinemia, Hydronephrosis, Micropenis	OMIM:235255
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Urinary bladder inflammation	ORPHA:556
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Inguinal hernia, Wrist flexion contracture, Camptodactyly, Omphalocele, Hydronephrosis, Flexion c...	ORPHA:254528
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Multiple renal ...	ORPHA:1166
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper...	OMIM:615160
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cach...	ORPHA:77297
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Urinary urgency	OMIM:619286
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Vesicoureteral reflux, Rena...	ORPHA:96169
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly	ORPHA:37748
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c...	OMIM:620300
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,...	OMIM:619743
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Osteopetrosis	OMIM:618541
Vater/Vacterl Association	Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstru...	OMIM:192350
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul...	OMIM:602390
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple...	OMIM:269840
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hoxha-Aliu Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 4th finger, Inguinal hernia,...	OMIM:620662
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Vesicoureteral reflux, Corneal scarring, Renal cyst, Renal hypoplasia, Fail...	OMIM:618460
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Failure to thrive, Splenomegaly, Hy...	OMIM:619046
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af...	ORPHA:159
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity...	ORPHA:811
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Wrist flexion contracture, Thrombocytopenia, Knee flexio...	ORPHA:3103
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Ureteral duplication, Ureteral stenosis	OMIM:270100
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h...	OMIM:618849
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Lipoatrophy, Glomerulopathy, Hepatomegaly, Pancreatitis, Loss of subcutaneo...	ORPHA:2348
Adrenoleukodystrophy	Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunction	OMIM:300100
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho...	OMIM:611881
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronephrosis, Microp...	ORPHA:1655
Pfeiffer Syndrome Type 3	Tracheomalacia, Vesicoureteral reflux, Limitation of joint mobility, Hydronephrosis, Horseshoe ki...	ORPHA:93260
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary incontinence, Dysuria	OMIM:176000
Joubert Syndrome 20	Renal cyst	OMIM:614970
Xeroderma Pigmentosum	Craniofacial hyperostosis, Blepharitis, Failure to thrive, Keratitis, Aminoaciduria	ORPHA:910
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Hematuria	OMIM:158310
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro...	ORPHA:158061
Spinal Cord Injury	Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Enamel hypoplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic...	OMIM:311200
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
15q26 overgrowth syndrome	Abnormality of the kidney, Craniosynostosis, Polycystic kidney dysplasia, Vesicoureteral reflux, ...	DECIPHER:81
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphadenopathy, Elev...	ORPHA:829
Netherton Syndrome	Hypereosinophilia, Failure to thrive	OMIM:256500
Noonan Syndrome 4	Large for gestational age, Ureteral duplication, Hydronephrosis	OMIM:610733
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2522
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Branchio-Oculo-Facial Syndrome	Renal agenesis, Atypical scarring of skin, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Acute Interstitial Pneumonia	Bronchiectasis, Elevated circulating creatinine concentration, Elevated circulating C-reactive pr...	ORPHA:79126
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Multiple renal cysts	ORPHA:66637
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Tarsal synostosis, Glandular hypospadias, Urogenital sinus anomaly, Fai...	ORPHA:2473
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydrone...	ORPHA:2322
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Arthrogryposis multiplex congenita	OMIM:236500
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Renal cyst, Bone marrow hypocellul...	ORPHA:445038
Spinocerebellar Ataxia 10	Urinary incontinence, Urinary urgency	OMIM:603516
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:444072
Birt-Hogg-Dube Syndrome 1	Multiple lipomas, Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Neurogenic bladder, Hydronephrosis, Elevated circulating creatine kinase conce...	OMIM:608779
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Hepatic stea...	OMIM:614922
Genitopatellar Syndrome	Radioulnar synostosis, Hip contracture, Hydronephrosis, Knee flexion contracture, Arthrogryposis ...	ORPHA:85201
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Shoulder flexion contracture, Hyperbilirubinemia, Polycystic kid...	OMIM:210710
Spinocerebellar Ataxia Type 13	Urinary incontinence, Torticollis, Urinary urgency	ORPHA:98768
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Micro Syndrome	Joint stiffness, Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis	ORPHA:2510
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia, Arthritis, ...	ORPHA:93111
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Left ventricular hypertrophy	ORPHA:90065
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Hydronephrosis	ORPHA:457193
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Spinocerebellar Ataxia, Autosomal Recessive 7	Urinary urgency	OMIM:609270
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Abnormality of the ureter, Flexion contracture of toe, Hypoplasia of penis	ORPHA:3409
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Craniosynostosis, Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Crossed fuse...	OMIM:300707
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb hypertonia, Neurogenic bladder, Ureteropelvic junction obstruction, Hydronephrosis, Lower li...	OMIM:616973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Large for gestational age, Ureteral duplication, Vesicoureteral ...	OMIM:614080
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Elbow flexion contracture, Aplasia ...	OMIM:200980
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Elevated circulating creatine kinase concentration, H...	OMIM:251900
Chromosome 2P16.1-P15 Deletion Syndrome	Hydronephrosis, Micropenis, Camptodactyly, Joint contracture of the hand	OMIM:612513
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Epiphyseal stippling, Hydronephrosis, Flexion contracture, Elevated 8(...	OMIM:308050
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Retroperit...	ORPHA:449432
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Osteopenia, Limited elbow extension, Vesicoureteral reflux, Decreased hip abduction, Hydronephros...	OMIM:620663
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Flexion contracture, Generalized limb muscle atrophy, Spastic/hyperactive bladder, Leg muscle sti...	ORPHA:137898
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Renal hypoplasia, Flexion contracture, Abdominal obesity, Micropenis	OMIM:619321
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Urinary urgency	OMIM:601338
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Camptodactyly of finger, Hydronephrosis	ORPHA:568
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis...	OMIM:607323
Beta-Ketothiolase Deficiency	Hyperammonemia, Hyperuricemia, Weight loss, Ketonuria	ORPHA:134
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Leg muscle stiffness, Urinary bladder sphincter dysfunction	ORPHA:43
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Joint hypermobility	ORPHA:250989
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Hypospadias, Inguinal hernia, Hyperalaninemia, Hyperammonemia, Failu...	OMIM:614052
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb amyotrophy, Detrusor sphincter dyssynergia, Neurogenic bladder, Urinary incontinence	ORPHA:466722
Urachal Cyst	Urachus fistula, Dysuria, Hematuria, Pyuria	ORPHA:488
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Spastic Paraplegia 9A, Autosomal Dominant	Generalized amyotrophy, Urinary incontinence, Urinary urgency	OMIM:601162
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome...	OMIM:612840
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis	OMIM:263520
Visceral Myopathy 1	Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis	OMIM:155310
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Enamel hypoplasia, Hyd...	OMIM:259775
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Pearson Syndrome	Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Hypophosphatemia, Splenomegaly, Pancre...	ORPHA:699
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Cinca Syndrome	Reduced bone mineral density, Anemia, Hepatomegaly, Elevated circulating C-reactive protein conce...	ORPHA:1451
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Tarsal synostosis, Renal insufficiency, Proteinuria	ORPHA:1307
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port...	ORPHA:824
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Loss of facial adipose ...	ORPHA:79083
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Inguinal hernia, Abnormal adipose tiss...	ORPHA:2092
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Nephrotic syndrome, Hernia of the abdominal wall, Camptodactyly of finger, ...	ORPHA:575
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Eczematoid dermatitis, Failure to thri...	OMIM:610443
Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive	OMIM:258900
Iatrogenic Botulism	Urinary retention	ORPHA:254509
Biotinidase Deficiency	Seborrheic dermatitis, Skin rash, Organic aciduria, Hyperammonemia, Conjunctivitis, Recurrent ski...	OMIM:253260
D-Bifunctional Protein Deficiency	Osteopenia, Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Cholest...	OMIM:261515
Bone Marrow Failure Syndrome 3	Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Reduced bone mineral density, ...	OMIM:617052
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Enlarged kidney, Long penis,...	ORPHA:744
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Vesicoureteral reflux, Renal hypoplasia, Failure to thrive, Hors...	ORPHA:2470
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Renal sodium wasting	OMIM:612780
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Mosaic Trisomy 8	Vesicoureteral reflux, Limitation of joint mobility, Camptodactyly of finger, Hydronephrosis, Art...	ORPHA:96061
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Hydronephrosis, Hypospadias, Inguinal hernia	OMIM:616449
Meckel Syndrome, Type 10	Hypospadias, Camptodactyly, Renal cyst, Micropenis, Malformation of the hepatic ductal plate	OMIM:614175
Osteopetrosis With Renal Tubular Acidosis	Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal renal tubular acidosis, Distal ...	ORPHA:2785
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Elevated circulating creatine kinase concentration, Chronic hepatitis, Hy...	OMIM:614921
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney...	ORPHA:1225
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Inguinal hernia, Pelvic kidney, Renal hypoplasia, Hydronephrosis...	OMIM:601186
Wound Botulism	Urinary retention	ORPHA:178475
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Pate...	OMIM:618280
Neuromuscular Oculoauditory Syndrome	Wrist flexion contracture, Elevated circulating creatine kinase concentration, Multiple renal cys...	OMIM:618733
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Micropenis	OMIM:616546
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
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
3C Syndrome	Hydronephrosis, Hypospadias, Inguinal hernia, Hypoplasia of penis	ORPHA:7
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Inguinal hernia, Cholestasis, Biliary ci...	OMIM:267010
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren...	ORPHA:391641
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Nephrolithiasis, Camptodactyly, Hydronephrosis, Nephrocalcinosis, Renal duplication,...	OMIM:268310
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary dif...	OMIM:619758
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Inguinal hernia, Vesicoureteral reflux, Laryngotracheomalacia, R...	OMIM:618454
Carnitine-Acylcarnitine Translocase Deficiency	Hyperammonemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration	OMIM:212138
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, F...	OMIM:618495
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Failure to thrive, Thr...	OMIM:617591
Amish Lethal Microcephaly	Limitation of joint mobility, Organic aciduria, Decreased skull ossification, Osteoporosis	ORPHA:99742
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Inguinal hernia, Recurrent urinary tract infections, Vesicoureteral...	ORPHA:90349
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Small for gestational age, Renal cyst	OMIM:615583
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Neph...	OMIM:618935
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney	OMIM:266810
12Q14 Microdeletion Syndrome	Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Failure to thrive, Horseshoe kidney	ORPHA:94063
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Elevated circulating creatin...	OMIM:615895
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Abnormality of the upper urinary tract, Glycosuria, Failure to thri...	ORPHA:99885
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	OMIM:311900
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Chronic kidney disease, ...	ORPHA:1667
Schinzel-Giedion Syndrome	Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Camptodactyly, Hydronephrosi...	ORPHA:798
Megalocornea-Intellectual Disability Syndrome	Joint hypermobility, Hypercholesterolemia, Osteopenia	ORPHA:2479
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity...	OMIM:615812
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Failure to thrive, Hydronephrosis, Multicystic kidney d...	ORPHA:261349
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Autosomal Dominant Spastic Paraplegia Type 9A	Lower limb hypertonia, Pollakisuria, Urinary incontinence, Urinary urgency	ORPHA:447753
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e...	OMIM:619632
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis, Umbilical hernia	OMIM:104350
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Vacterl Association With Hydrocephalus	Renal hypoplasia, Radial club hand	OMIM:276950
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Lipoatrophy, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Autosomal Recessive Spastic Paraplegia Type 20	Joint hypermobility, Dysuria, Hydronephrosis	ORPHA:101000
Lipodystrophy, Congenital Generalized, Type 1	Generalized muscular appearance from birth, Nephrolithiasis	OMIM:608594
Goodpasture Syndrome	Anemia, Glomerular crescent formation, Increased blood urea nitrogen, Cylindruria, Proteinuria, M...	OMIM:233450
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate	ORPHA:760
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l...	ORPHA:124
Zimmermann-Laband Syndrome 1	Nephrolithiasis, Long penis	OMIM:135500
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Joint stiffness, Failure to thrive, Hydronep...	ORPHA:2995
Intellectual Developmental Disorder, Autosomal Dominant 53	Joint hypermobility, Hydronephrosis, Micropenis	OMIM:617798
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Inguinal hernia, Camptodactyly, Hydronephrosis	OMIM:616737
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Abnormal renal morphology, Vesicoureteral reflux, Decreased body weight...	OMIM:609053
Legionnaires Disease	Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Hyponatremia, Bone marrow hypocell...	ORPHA:549
Inhalational Botulism	Urinary retention	ORPHA:254504
Autosomal Recessive Spastic Paraplegia Type 9B	Pollakisuria, Urinary retention, Skeletal muscle atrophy	ORPHA:447760
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Zygomycosis	Myocarditis, Pancreatitis, Gastritis, Renal insufficiency, Acute infectious pneumonia, Hepatitis,...	ORPHA:73263
Spinocerebellar Ataxia Type 42	Urinary incontinence, Urinary urgency	ORPHA:458803
Osteopetrosis, Autosomal Recessive 1	Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Anemia, Pancytopenia, Hypocalcemia, Increa...	OMIM:259700
Joubert Syndrome 2	Failure to thrive, Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, Urinary inco...	ORPHA:79276
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Osteoporosis, Increased circulating i...	OMIM:235200
Incontinentia Pigmenti	Abnormal dental enamel morphology, Camptodactyly of finger, Umbilical hernia, Eosinophilia, Osteo...	ORPHA:464
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm...	ORPHA:2869
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Hydronephrosis, Cervical C2/C3 vertebral fusion	ORPHA:1780
Hardikar Syndrome	Hydroureter, Cholangitis, Recurrent urinary tract infections, Hyperbilirubinemia, Vesicoureteral ...	OMIM:301068
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231226
Mosaic Trisomy 9	Hypoplasia of penis, Limitation of joint mobility, Camptodactyly of finger, Hydronephrosis, Multi...	ORPHA:99776
Gitelman Syndrome	Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Rhabdomyolysis, Nocturia, Renal magne...	OMIM:263800
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Hydronephrosis, Recurr...	ORPHA:140
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal ossificatio...	ORPHA:90674
Braddock-Carey Syndrome 1	Enamel hypoplasia, Thrombocytopenia, Multicystic kidney dysplasia, Camptodactyly	OMIM:619980
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections, Joint stiffne...	ORPHA:847
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Arthrogryposis multiplex congenita, Renal hypoplasia	OMIM:616258
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula	OMIM:236700
Fryns Syndrome	Congenital diaphragmatic hernia, Hypospadias, Vesicoureteral reflux, Omphalocele, Hydronephrosis,...	ORPHA:2059
Fatal Familial Insomnia	Urinary retention	OMIM:600072
Spinocerebellar Ataxia Type 10	Urinary urgency	ORPHA:98761
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Abnormal bladder morphology, Vesicoureteral reflux, Failure to thrive, Hydronephrosis...	ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Fai...	ORPHA:464311
Spinocerebellar Ataxia 2	Distal amyotrophy, Urinary incontinence, Urinary bladder sphincter dysfunction	OMIM:183090
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Hydronephrosis	ORPHA:2839
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Joint hypermobility, Vesicoureteral reflux, Hypospadias, Renal atrophy	OMIM:618659
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circu...	OMIM:616878
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Umbilical hernia, Horseshoe kidney	OMIM:115470
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr...	OMIM:614527
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Hypochro...	ORPHA:231214
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Failure to thr...	OMIM:235555
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Pancreatitis, Cholangitis, Elevated circulating C-reactive protein con...	ORPHA:449563
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Oculoskeletodental Syndrome	Hepatomegaly, Hypocalcemia, Hypercalciuria, Elbow flexion contracture, Renal agenesis, Mucopolysa...	OMIM:618440
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Cystic angiomatosis of bone, Acute pancreatitis, N...	OMIM:269700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena...	OMIM:619522
Spastic Ataxia, Charlevoix-Saguenay Type	Distal amyotrophy, Peroneal muscle atrophy, Urinary urgency	OMIM:270550
Distal Deletion 10Q	Acute kidney injury, Vesicoureteral reflux, Facial diplegia, Scapular winging, Enuresis, Function...	ORPHA:96148
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Neu...	OMIM:612852
Marburg Hemorrhagic Fever	Pancreatitis, Hypokalemia, Arthritis, Skin rash, Hyperamylasemia, Elevated circulating creatine k...	ORPHA:99826
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria	OMIM:619167
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Osteoly...	ORPHA:280365
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Contractures of the large joints, Hydronephrosis, Micropenis	ORPHA:96092
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cranial hyperostosis, Lipoma, Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Transketolase Deficiency	Elevated circulating ribitol concentration, Hepatomegaly, Renal cyst, Increased level of ribose i...	ORPHA:488618
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Neuhauser Syndrome	Osteopenia, Hypercholesterolemia	OMIM:249310
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Multiple bladder diverticula, Inguinal hernia, Tracheomalacia, Morgagni diaphragmatic...	OMIM:613177
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Failure to thrive, Obesit...	OMIM:615873
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,...	ORPHA:95409
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Elevated circulating 7-dehydrocholest...	ORPHA:818
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Cranioectodermal Dysplasia 3	Joint hypermobility, Stage 5 chronic kidney disease, Nephronophthisis, Sagittal craniosynostosis	OMIM:614099
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Increased circulating ferritin concentration, Elevated circulating creatinine concent...	OMIM:619534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Pelvic kidney, Vesicoureteral reflux, Obesity, Hydronephrosis, Micropenis	OMIM:618653
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Hyperglutamatemia, Increased serum...	ORPHA:3008
Immunodeficiency 10	Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Recurrent ur...	OMIM:612783
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Hepatomegaly, Hypospadias, Inguinal hernia, Ren...	OMIM:312870
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis	ORPHA:1358
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Smith-Lemli-Opitz Syndrome	Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re...	OMIM:270400
Williams Syndrome	Hypoplasia of penis, Hypercalciuria, Pelvic kidney, Recurrent urinary tract infections, Vesicoure...	ORPHA:904
Pallister-Hall Syndrome	Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph...	OMIM:146510
Congenital-Onset Steinert Myotonic Dystrophy	Enuresis, Facial hypotonia	ORPHA:589821
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter	ORPHA:1770
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarn...	ORPHA:480864
Lathosterolosis	Hyperbilirubinemia, Osteoporosis, Hyperammonemia, Elevated circulating lathosterol concentration,...	OMIM:607330
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Eczematoid dermatitis, Failure...	ORPHA:464306
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Hydronep...	ORPHA:353281
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph...	ORPHA:2044
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Inguinal hernia, Splenomegaly, Umbilical hernia, Heparan sulfate ex...	OMIM:252900
Bardet-Biedl Syndrome 6	Obesity, Hypospadias, Renal cyst	OMIM:605231
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Stomatiti...	ORPHA:79282
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Mungan Syndrome	Renal hypoplasia, Vesicoureteral reflux	OMIM:611376
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of the finger joints, Hydroneph...	ORPHA:163979
Apert Syndrome	Chronic otitis media, Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal oss...	OMIM:101200
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys	OMIM:617914
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Multiple renal cysts, ...	ORPHA:1318
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Hydronephrosis, Block vertebrae, Urethral atresia, Vertebral fusion	OMIM:271520
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomega...	ORPHA:91138
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Intr...	ORPHA:1454
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Hypoperistalsis, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Abnormal circulating citrulline concentration, Hyperornithinemia, Oroticaciduria, Hyperammonemia,...	ORPHA:415
Parkinson Disease, Late-Onset	Urinary urgency	OMIM:168600
Au-Kline Syndrome	Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Chronic kidney disease, Craniosynostosi...	OMIM:616580
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Congenital hepatic fibrosis	ORPHA:2031
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Multiple System Atrophy 1, Susceptibility To	Urinary incontinence, Skeletal muscle atrophy, Urinary urgency	OMIM:146500
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hematuria	ORPHA:60025
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Loss of gluteal subcutaneous adipo...	OMIM:604367
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Atypical scarrin...	OMIM:263700
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Acute pancreatitis, Hyperammonemia, 3-Methylglutaric aciduria, Weight loss, Ketonuria	ORPHA:20
Pseudo-Torch Syndrome 2	Abnormal renal corticomedullary differentiation	OMIM:617397
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia	ORPHA:348
Blepharophimosis-Impaired Intellectual Development Syndrome	Flexion contracture, Recurrent urinary tract infections, Hypospadias, Enuresis	OMIM:619293
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, 4-Hydroxy...	OMIM:617156
Yellow Fever	Acute kidney injury, Hyperbilirubinemia, Anuria, Skin rash, Acute pancreatitis, Elevated circulat...	ORPHA:99829
Botulism	Urinary retention	ORPHA:1267
Cystic Fibrosis	Nephrolithiasis	ORPHA:586
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Panniculitis, Inguinal hernia, Recurrent urinary tract infections, Failure to t...	OMIM:612541
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Chronic otitis media, Unilateral renal agenesis, Hypospadias, In...	ORPHA:96121
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Duplicated collecting system	OMIM:280000
Trisomy 18	Congenital diaphragmatic hernia, Cachexia, Abnormality of the upper urinary tract, Omphalocele, C...	ORPHA:3380
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Obesity, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Congenital Erythropoietic Porphyria	Increased urinary porphobilinogen, Purple urine, Red-brown urine, Unconjugated hyperbilirubinemia...	ORPHA:79277
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Inguinal hernia, Hydronephrosis, Contracture of the proximal interphalangeal joint o...	ORPHA:464738
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Atopic dermatitis, Failure to thrive, Hydron...	OMIM:115150
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Joint hypermobility, Hydronephrosis	OMIM:300968
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Decreased ...	ORPHA:90051
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular...	ORPHA:2137
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Monosomy 9P	Congenital diaphragmatic hernia, Ureteropelvic junction obstruction, Hypospadias	ORPHA:261112
White-Kernohan Syndrome	Recurrent otitis media, Hydroureter, Obesity, Hydronephrosis, Joint hypermobility, Horseshoe kidney	OMIM:619426
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Tarsal synostosis, Renal insufficiency, Abnor...	ORPHA:2750
Meckel Syndrome, Type 2	Omphalocele, Renal cyst, Bile duct proliferation	OMIM:603194
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Wiskott-Aldrich Syndrome	Acute leukemia, Glomerulopathy, Anemia, Hyperostosis, Abnormal eosinophil morphology, Hypoplasia ...	ORPHA:906
Machado-Joseph Disease	Distal amyotrophy, Urinary bladder sphincter dysfunction	OMIM:109150
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Anemia, Hep...	OMIM:266920
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto...	OMIM:259720
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Enamel hypoplasia, ...	ORPHA:90324
Degcags Syndrome	Abnormal renal medulla morphology, Osteopenia, Hypospadias, Tracheomalacia, Hiatus hernia, Recurr...	OMIM:619488
Incontinentia Pigmenti	Eosinophilia, Scarring, Leukocytosis	OMIM:308300
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Tracheomalacia, Vesicoureteral ref...	ORPHA:2745
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Trichohepatoenteric Syndrome 1	Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hypospadias, Galactosuria, Abnormality of t...	OMIM:222470
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Osteopenia, Hepatomegaly, Elevated circulating creatine kinase concentratio...	OMIM:613327
Foodborne Botulism	Urinary retention	ORPHA:228371
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Acholic stools, Hyperbi...	OMIM:613812
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Hydronephrosis, Umbilical hernia, Micropenis	OMIM:301040
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Cousin Syndrome	Wrist flexion contracture, Camptodactyly, Humeroradial synostosis, Hydronephrosis, Joint contract...	OMIM:260660
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:604292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Craniofacioskeletal Syndrome	Hypocalcemia, Hydronephrosis, Hypospadias	OMIM:300712
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena...	OMIM:258040
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Craniosynostosis, Horseshoe kidney, Renal cyst	ORPHA:166035
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Biotinidase Deficiency	Skin rash, Organic aciduria, Eczematoid dermatitis, Hyperammonemia, Conjunctivitis	ORPHA:79241
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicovaginal fistula	OMIM:300896
Isolated Biliary Atresia	Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Severe failure to thrive, Periportal fibrosis, Ch...	ORPHA:30391
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis	OMIM:619351
Listeriosis	Myocarditis, Acute kidney injury, Pneumonia, Stiff neck, Arteritis, Pericarditis, Pustule, Cholec...	ORPHA:533
Okamoto Syndrome	Ureteropelvic junction obstruction, Urinary incontinence, Hydronephrosis, Unilateral renal hypopl...	ORPHA:2729
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Parkinson Disease 1, Autosomal Dominant	Urinary urgency	OMIM:168601
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Monosomy 22Q13.3	Vesicoureteral reflux, Obesity, Hydronephrosis, Recurrent pyelonephritis, Umbilical hernia, Renal...	ORPHA:48652
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Osteopenia, Congenital megaureter, Hypercalciuria, Renal cyst, Obesity, Nep...	ORPHA:369837
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Ascites, Eosinophilia, Splenomegaly, Cardiomegaly, Hypoalbuminemia	ORPHA:75565
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, H...	ORPHA:110
3Mc Syndrome 1	Lambdoidal craniosynostosis, Omphalocele, Coronal craniosynostosis, Hydronephrosis, Radioulnar sy...	OMIM:257920
Adrenomyeloneuropathy	Distal lower limb muscle weakness, Urinary incontinence, Urinary urgency, Leg muscle stiffness, U...	ORPHA:139399
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Sple...	OMIM:300842
Spinocerebellar Ataxia 1	Distal amyotrophy, Skeletal muscle atrophy, Urinary bladder sphincter dysfunction	OMIM:164400
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Renal insufficiency	ORPHA:469
Cushing Disease	Increased body weight, Lymphopenia, Leukocytosis, Osteoporosis, Abdominal obesity, Decreased eosi...	ORPHA:96253
Traboulsi Syndrome	Joint hypermobility, Homocystinuria	OMIM:601552
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Splenomegaly, Hep...	OMIM:618641
Addison Disease	Renal salt wasting, Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased cir...	ORPHA:85138
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Aspartylglucosaminuria	Chronic otitis media, Abnormal cortical bone morphology, Inguinal hernia, Arthritis, Joint stiffn...	ORPHA:93
Toriello-Lacassie-Droste Syndrome	Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo...	ORPHA:3339
Eec Syndrome	Renal hypoplasia/aplasia, Hypospadias, Inflammatory abnormality of the eye, Abnormal dental ename...	ORPHA:1896
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Inguinal hernia, Hyperbilirubinemia, Cholestasis, Bil...	OMIM:613610
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hydronephrosis, Nephrolithiasis, Vesicoureteral reflux	ORPHA:438213
Pelizaeus-Merzbacher Disease	Urinary urgency	OMIM:312080
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
Osteogenesis Imperfecta	Hypercalciuria, Flexion contracture, Nephrolithiasis	ORPHA:666
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Generalized lipodystrophy, Lymphadenopathy, Panniculit...	OMIM:619183
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Limited elbow extension, Pneumonia, Ectopic kidney, Hypospadias,...	OMIM:122470
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia...	OMIM:268300
Meckel Syndrome, Type 6	Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent gallbla...	OMIM:612284
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ...	OMIM:127550
Familial Tumoral Calcinosis	Hyperostosis, Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Multicystic kidney dysplasia	OMIM:618829
Tenorio Syndrome	Macroglossia, Enuresis	OMIM:616260
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Renal cortical cysts, Elbow flexion contracture, Renal cyst, Omp...	ORPHA:1692
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Camptodactyly of finger, Hypospadias, Abnormality of the ureter	ORPHA:2311
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	ORPHA:2886
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ...	ORPHA:2036
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Scarring, Atrophic scars, Nephrotic syndrome, Hydronephrosis, Distal arthrogryposis, Umbilical he...	OMIM:601776
Gabriele-De Vries Syndrome	Facial hypotonia, Ureteropelvic junction obstruction, Hydronephrosis, Distal arthrogryposis, Dist...	ORPHA:506358
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple prenatal fractures, Decreased calvarial ossification, Hydronephrosis, Dentin...	OMIM:610682
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Abnormal mesentery ...	ORPHA:2075
Fanconi Anemia, Complementation Group F	Pelvic kidney, Vesicoureteral reflux, Microphallus, Renal hypoplasia, Failure to thrive, Pneumonia	OMIM:603467
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Fryns Syndrome	Large for gestational age, Ureteral duplication, Hypospadias, Aplasia of the left hemidiaphragm, ...	OMIM:229850
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Hydronephrosis	ORPHA:1340
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Inguinal hernia, Polycystic kidney dysplasia, Renal ...	OMIM:134780
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation	OMIM:611134
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis, Small for gest...	OMIM:257300
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Trisomy 8P	Multiple joint contractures, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Hernia, Micropenis	ORPHA:264450
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Nephrolithiasis	ORPHA:652
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hypospadias, Inguinal hernia, Camptodactyly, Hydronephrosis, Flexion c...	ORPHA:487796
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:129900
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Nijmegen Breakage Syndrome	Recurrent otitis media, Recurrent urinary tract infections, Sinusitis, Hydronephrosis, Recurrent ...	OMIM:251260
Friedreich Ataxia	Hand muscle atrophy, Urinary bladder sphincter dysfunction	ORPHA:95
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Inguinal hernia, Renal cyst, Transient neutropenia, Bifid ureter, Rena...	OMIM:617107
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Osteopenia, Recurrent otitis media, Hypospadias, Congenital ge...	ORPHA:3455
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Fused cervical vertebrae, Inguinal hernia, Seborrheic dermatitis, Superficial dermal perivascular...	ORPHA:83617
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia	OMIM:220500
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hydroureter, Hypospadias, Inguinal hernia,...	ORPHA:373
Hepatoerythropoietic Porphyria	Osteopenia, Scarring, Red urine, Scarring alopecia of scalp, Purple urine, Red-brown urine, Osteo...	ORPHA:95159
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Abnormality of the kidney, Osteopenia, Hydroureter, Abnormally ossified vertebrae, Abnor...	ORPHA:2636
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Dubowitz Syndrome	Hypospadias, Eczematoid dermatitis, Hydronephrosis, Joint hypermobility, Craniosynostosis	ORPHA:235
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Hypospadias, Tracheomalacia, Recurrent urinary tract infections, Vesicour...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Hypospadias, Tracheomalacia, Recurrent urinary tract infections, Vesicour...	ORPHA:363958
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Hepatomegaly, Renal agenesis, Failure to thrive, Crossed fused renal ec...	ORPHA:2538
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Hydronephrosis, Micropenis, Crossed fused renal ectopia	OMIM:147920
Aspartylglucosaminuria	Pathologic fracture, Aspartylglucosaminuria, Acne, Joint hypermobility, Hernia	OMIM:208400
Atelosteogenesis Type I	Abnormal ossification involving the femoral head and neck, Absent or minimally ossified vertebral...	ORPHA:1190
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Failure to thrive, Obesity, Craniosynostosis, Multicystic kidney...	ORPHA:261197
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Lambdoidal craniosynostosis, Vesicoureteral reflux, Hydronephrosis, Joint hypermobili...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Lambdoidal craniosynostosis, Vesicoureteral reflux, Hydronephrosis, Joint hypermobili...	ORPHA:352665
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Inguinal hernia, Hypoplasia of penis, Synostosis of carpal bones, Camptodac...	ORPHA:1507
Primary Sclerosing Cholangitis	Cholestasis, Ascites, Splenomegaly, Jaundice, Hepatocellular carcinoma, Osteoporosis, Portal hype...	ORPHA:171
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Metacarpal synostosis, Partial fusion of proximal row of carpal bones...	OMIM:600383
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Digeorge Syndrome	Recurrent otitis media, Acne, Unilateral renal agenesis, Inguinal hernia, Hypocalcemia, Seborrhei...	OMIM:188400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Hydronephrosis, Umbilical hernia, Webbed ...	ORPHA:97360
Harrod Syndrome	Failure to thrive, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Alagille Syndrome	Nephrotic syndrome, Renal hypoplasia/aplasia, Abnormality of the ureter	ORPHA:52
Sotos Syndrome	Abnormality of the kidney, Ankle flexion contracture, Ureteral duplication, Hypospadias, Bilatera...	ORPHA:821
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Inguinal hernia, Periportal fibrosis, Ascites, Omphalocele, Renal hypoplasia, Splen...	OMIM:269860
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Cheilitis, Hydroureter, Inguinal hernia, Abnormal dental enamel morpho...	ORPHA:2273
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Multiple lipomas, Renal insufficiency, Pyelonephritis	OMIM:181270
Chime Syndrome	Abnormality of the kidney, Hydronephrosis, Osteolysis	ORPHA:3474
Hereditary Hemorrhagic Telangiectasia	Hematuria, Nephrolithiasis	ORPHA:774
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Umbilical hernia, Nephroblastoma, Multicystic kidney dy...	ORPHA:1001
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction	ORPHA:93256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration,...	OMIM:615287
Tuberous Sclerosis 1	Renal cell carcinoma, Renal cyst, Dental enamel pits, Shagreen patch, Pulmonary lymphangiomyomato...	OMIM:191100
Hajdu-Cheney Syndrome	Osteopenia, Hepatomegaly, Hypospadias, Inguinal hernia, Decreased skull ossification, Osteoporosi...	ORPHA:955
Autosomal Dominant Cutis Laxa	Osteopenia, Unilateral renal agenesis, Inguinal hernia, Bronchiectasis, Bladder diverticulum, Joi...	ORPHA:90348
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Gaucher Disease	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Osteolysis, Pancytopenia, Incr...	ORPHA:355
Campomelic Dysplasia	Hypospadias, Poorly ossified cervical vertebrae, Tracheomalacia, Absent sternal ossification, Del...	OMIM:114290
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Spastic/hyperactive bladder	ORPHA:411602
Joubert Syndrome 14	Renal cyst	OMIM:614424
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Renal cell carcinoma, Polycythemia, Multiple renal ...	OMIM:193300
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dorsiflexor we...	ORPHA:171629
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Increased body weight, Lymphopenia, Le...	ORPHA:99889
Ulbright-Hodes Syndrome	Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia	ORPHA:3404
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormality of the urinary system, Myop...	ORPHA:3463
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Camptodactyly of finger, Lymphangioma, Sp...	ORPHA:2136
Peutz-Jeghers Syndrome	Bladder polyp, Abnormality of the ureter	OMIM:175200
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Craniosynostosis, Horseshoe kidney, Renal cyst	OMIM:250410
Dextrocardia	Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Floating-Harbor Syndrome	Recurrent otitis media, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Inguina...	OMIM:136140
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Knobloch Syndrome 1	Duplicated collecting system, Renal duplication, Hydronephrosis, Bifid ureter, Joint hypermobility	OMIM:267750
Homozygous Familial Hypercholesterolemia	Renal steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis, ...	ORPHA:391665
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Multicystic kidne...	ORPHA:261265
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Jaundice, Hepatomegaly, Abnormal blood inorganic cation co...	ORPHA:309854
Joubert Syndrome 21	Hyperechogenic kidneys, Splenomegaly, Renal cyst	OMIM:615636
Cardiac Valvular Dysplasia 1	Inguinal hernia, Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Aciduria, Tracheomalacia, Osteoporosis, Ethylmalonic aciduria, Failu...	OMIM:203700
Tuberous Sclerosis 2	Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Shagreen patch, Pulmonary lymphangiomyoma...	OMIM:613254
Tetrasomy 9P	Amelogenesis imperfecta, Myositis, Recurrent urinary tract infections, Abnormal dental enamel mor...	ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Absent or minimally ossified vertebral bodies, Hypoplasia of penis, Abnormal pelvis bone ossifica...	ORPHA:93271
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Multipl...	ORPHA:538
Brucellosis	Lung abscess, Liver abscess, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concen...	ORPHA:1304
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, EMG: myopathic abnormali...	ORPHA:254892
Joubert Syndrome 1	Hepatic fibrosis, Nephropathy, Renal cyst	OMIM:213300
Viss Syndrome	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd toe, Failure to thr...	OMIM:619472
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Recurrent cutaneous abscess formation, Craniosynostosis, Cutaneous absc...	OMIM:147060
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Arachnoid Cyst	Facial palsy, Urinary incontinence, Lower limb muscle weakness, Urinary bladder sphincter dysfunc...	ORPHA:2356
Superficial Siderosis	Functional abnormality of the bladder, Lower limb muscle weakness	ORPHA:247245
Jacobsen Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Inguinal hernia, Eczematoid dermatitis	ORPHA:2308
Mayer-Rokitansky-Kuster-Hauser Syndrome	Reduced renal corticomedullary differentiation, Multicystic kidney dysplasia, Renal cyst, Renal m...	OMIM:277000
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena...	OMIM:617666
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Renal artery atherosclerosis, Vacuolated lymphocytes, Hyperlipidemia,...	ORPHA:565612
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, ...	ORPHA:77261
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Unicoronal synostosis, Renal hypoplasia, Renal cyst, Omphalocele	OMIM:616300
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Arthritis, Vesicoureteral reflux, Keratoconjunctivitis, Renal ...	ORPHA:2363
1P36 Deletion Syndrome	Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Joint stiffness, Camptod...	ORPHA:1606
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter	ORPHA:3253
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co...	OMIM:610717
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Eczematoid dermatitis, Recurrent pneumonia, Hydronephrosis, Umbilical hernia, Joint...	OMIM:620330
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Foot joint contracture, Abnormality of the urinary system, Urinary bladde...	ORPHA:79408
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Recurrent urinary tract infections, Hydronephrosis,...	OMIM:616268
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Charge Syndrome	Abnormality of bone mineral density, Vesicoureteral reflux, Omphalocele, Hydronephrosis, Umbilica...	ORPHA:138
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis, Hypocalcemic seizures, Anemia, Hepatomegaly, Abnormal trabecular bone morphology, ...	OMIM:612301
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased ...	OMIM:620376
Scorpion Envenomation	Myocarditis, Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Acu...	ORPHA:466677
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae	ORPHA:3301
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Rhabdomyolysis, Increased intramyocellular lipid droplets, Abnormal ...	ORPHA:79102
Pagod Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Omphalocele, Abnormality of the spleen...	ORPHA:991
Doors Syndrome	Aspiration pneumonia, Sagittal craniosynostosis, Hydronephrosis, Increased urine alpha-ketoglutar...	ORPHA:79500
Isolated Posterior Meningocele	Enuresis	ORPHA:268810
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:289
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Rubinstein-Taybi Syndrome 1	Hypospadias, Small for gestational age, Enamel hypoplasia, Failure to thrive, Hydronephrosis, Fle...	OMIM:180849
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, Renovascular hypertension, Renal artery stenosis	ORPHA:391487
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Hydroureter, Ectopic kidney, Hypospadias, Inguinal hernia, Renal...	OMIM:135900
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the bladder, Omphalocele, Hydronephrosis, Dilatation of t...	OMIM:265380
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Urinary retention, Flexion contracture, Urinary urgency	ORPHA:99027
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asplenia, Congenital hepati...	ORPHA:564
Acute Transverse Myelitis	Distal lower limb muscle weakness, Urinary incontinence, Upper limb muscle weakness, Urinary blad...	ORPHA:139417
Parkinson Disease 14, Autosomal Recessive	Hypomimic face, Nocturia	OMIM:612953
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Failure to thrive, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Craniofacial Microsomia 1	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Hypopl...	OMIM:164210
Robinow Syndrome, Autosomal Dominant 1	Inguinal hernia, Limited elbow extension and supination, Hydronephrosis, Renal duplication, Umbil...	OMIM:180700
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Ureteral duplication, Inguinal hernia, Omphalocele, Enamel hypop...	OMIM:305600
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Abn...	ORPHA:50918
Johanson-Blizzard Syndrome	Hypospadias, Hypocalcemia, Increased VLDL cholesterol concentration, Failure to thrive, Urethrova...	OMIM:243800
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Bone cyst, Sinusitis, Hydronephrosis, Joint ...	ORPHA:363700
Radio-Renal Syndrome	Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3015
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Re...	ORPHA:892
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Cellul...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Cellul...	OMIM:233710
Peters-Plus Syndrome	Limited elbow movement, Ureteral duplication, Hypospadias, Decreased body weight, Renal hypoplasi...	OMIM:261540
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Cellul...	OMIM:233690
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention	OMIM:600145
Mosaic Variegated Aneuploidy Syndrome	Ascites, Acute lymphoblastic leukemia, Nephroblastoma, Multicystic kidney dysplasia, Osteolysis	ORPHA:1052
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Inguinal hernia, Hydronephrosis, Ren...	ORPHA:709
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Inguinal hernia, Hyperammonemia, Failure to thrive, Small for gestational age, Keton...	OMIM:220111
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Reduced bone mineral density, Multicystic kidney dysplasia, ...	ORPHA:1556
Reynolds Syndrome	Steatorrhea, Calcinosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhos...	OMIM:613471
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, Enuresis	ORPHA:369950
Otopalatodigital Syndrome, Type Ii	Hypospadias, Omphalocele, Hydronephrosis, Umbilical hernia, Sclerosis of skull base, Nonossified ...	OMIM:304120
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Camptodactyly, Omphalocele, Failure to thrive, Sclerosis of skull bas...	OMIM:300373
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Acrofacial Dysostosis, Cincinnati Type	Recurrent otitis media, Inguinal hernia, Tracheobronchomalacia, Decreased body weight, Failure to...	OMIM:616462
Charge Syndrome	Hypocalcemia, Omphalocele, Renal agenesis, Renal hypoplasia, Hydronephrosis, Umbilical hernia, Mi...	OMIM:214800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Vesicoureteral reflux, Hypospadias, Renal cyst	OMIM:616975
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Limitation of joint mobility, Hydronephrosis, Renal dysplasia, Joint hypermobility, H...	ORPHA:480880
Genitopatellar Syndrome	Multicystic kidney dysplasia, Radioulnar synostosis, Hip contracture, Hydronephrosis, Knee flexio...	OMIM:606170
Hydrolethalus Syndrome 1	Hydronephrosis, Hypospadias, Omphalocele	OMIM:236680
Steinert Myotonic Dystrophy	Hypercholesterolemia, Cholelithiasis	ORPHA:273
Trisomy 10P	Abnormality of the kidney, Camptodactyly, Multiple renal cysts, Absent gallbladder, Small for ges...	ORPHA:171929
Cerebrocostomandibular Syndrome	Ectopic kidney, Calcaneal epiphyseal stippling, Elbow flexion contracture, Renal cyst, Horseshoe ...	OMIM:117650
Spondylocarpotarsal Synostosis Syndrome	Inguinal hernia, Enamel hypoplasia, Renal cyst	OMIM:272460
Distal Deletion 15Q	Congenital diaphragmatic hernia, Hypospadias, Multicystic kidney dysplasia, Failure to thrive, Ab...	ORPHA:1596
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic kidney dysplasia, Right un...	ORPHA:261537
Mowat-Wilson Syndrome	Abnormality of the kidney, Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic...	ORPHA:2152
Dermatomyositis	Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration, Weight loss, ...	ORPHA:221
Williams-Beuren Syndrome	Renal insufficiency, Hypercalciuria, Pelvic kidney, Abnormal renal morphology, Vesicoureteral ref...	OMIM:194050
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Recurrent otitis media, Hypospadias, Multicystic kidney dysplasia, Right un...	ORPHA:261552
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormality of the ureter	ORPHA:141127
C Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Omphalocele, Failure to thrive in infa...	ORPHA:1308
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Pmm2-Cdg	Abnormal renal tubule morphology, Osteopenia, Abnormal liver parenchyma morphology, Abnormal subc...	ORPHA:79318
Branchiooculofacial Syndrome	Hypospadias, Elbow flexion contracture, Duplication of internal organs, Renal cyst, Renal agenesi...	OMIM:113620
Townes-Brocks Syndrome 1	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Umbili...	OMIM:107480
Townes-Brocks Syndrome	Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflu...	ORPHA:857
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis	ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Pelvic kidney, Elbow flexion contracture, Urinary urgency, Hip contrac...	OMIM:619503
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, ...	ORPHA:199
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Hypospadias, Inguinal hernia, Omphalocele, Renal agenesis, Umbilical h...	OMIM:308205
Alström Syndrome	Detrusor sphincter dyssynergia, Urinary incontinence, Recurrent urinary tract infections, Dysuria...	ORPHA:64
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Hypospadias, Camptodactyly of 2nd-5th fingers, Inguinal hernia, ...	OMIM:601803

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.

Phenotype	Allele	Zygosity	Life Stage
Urinary bladder - MPATH pathological process term hyperplasia	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Urinary bladder - MPATH pathological process term chronic inflammation	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Urinary bladder - MPATH pathological process term erosion	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Kidney - MPATH pathological process term chronic inflammation	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Kidney - MPATH pathological entity term hydronephrosis	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Urinary bladder - MPATH pathological process term metaplasia	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult
Kidney - MPATH pathological process term atrophy	Slc3a1^{tm1.1(KOMP)Vlcg}	HOM	Early adult

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 Slc3a1.

No publications found that use IMPC mice or data for Slc3a1.

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

MGI Allele	Allele Type	Produced
Slc3a1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc3a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Slc3a1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Slc3a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc3a1^{em1(IMPC)Cnrm}	Deletion	Mice
Slc3a1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Slc3a1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc3a1 MGI:1195264

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Histopathology

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X-ray

Human diseases caused by Slc3a1 mutations

Histopathology

IMPC related publications

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