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Gene: Fryl MGI:1919563

Gene Summary

Name:

FRY like transcription coactivator

Synonyms:

2310004H21Rik, 9030227G01Rik, 2510002A14Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular hemoglobin	Fryl^{tm1b(KOMP)Wtsi}	HET	Early adult	4.42×10^-05
abnormal skin pigmentation	Fryl^{tm1a(KOMP)Wtsi}	HET	Early adult	7.29×10^-05
decreased circulating calcium level	Fryl^{tm1b(KOMP)Wtsi}	HET	Early adult	2.85×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Fryl^{tm1a(KOMP)Wtsi}
body, WT, Female, WTSI

Fryl^{tm1a(KOMP)Wtsi}
head, WT, Female, WTSI

Fryl^{tm1a(KOMP)Wtsi}
body, HET, Female, WTSI

Fryl^{tm1a(KOMP)Wtsi}
head, HET, Female, WTSI

Fryl^{tm1a(KOMP)Wtsi}
forearm, HET, Female, WTSI

View all 128 images

Fryl^{tm1b(KOMP)Wtsi}
fused cornea and lens, HET, Female, WTSI

Fryl^{tm1b(KOMP)Wtsi}
abnormal placement of pupils, HET, Male, WTSI

Fryl^{tm1b(KOMP)Wtsi}
abnormal coat/hair pigmentation, HET, Male, WTSI

Human diseases caused by Fryl 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 Fryl (0 diseases)
Human diseases predicted to be associated with Fryl (966 diseases)

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

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

Disease	Matching phenotypes	Source
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Cafe-Au-Lait Spots, Multiple	Multiple cafe-au-lait spots	OMIM:114030
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O...	OMIM:615993
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati...	OMIM:263200
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hydronephrosis	OMIM:247990
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Renal cyst	OMIM:614870
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Placental Insufficiency	Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta	ORPHA:439167
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst, Obesity	OMIM:615982
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Renal cortical cysts, Erythroderma	OMIM:609180
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Adamantinoma	Hypercalcemia	ORPHA:55881
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Glycogen Storage Disease Iv	Hepatosplenomegaly, Failure to thrive, Tubulointerstitial fibrosis	OMIM:232500
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neph...	OMIM:617056
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret...	ORPHA:195
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Short stature, Hydronephrosis, Failure to thrive in infancy	ORPHA:85285
Senior-Loken Syndrome	Chronic kidney disease, Short stature, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He...	ORPHA:85450
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Image Syndrome	Intrauterine growth retardation, Hypospadias, Hydronephrosis	ORPHA:85173
Fanconi Anemia, Complementation Group O	Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis	OMIM:613390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mpdu1-Cdg	Eczema, Renal cortical cysts	ORPHA:79323
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Abnormal renal corticomedullary differen...	OMIM:616733
Say Syndrome	Short stature, Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
C Syndrome	Hepatomegaly, Short stature, Patent ductus arteriosus, Renal cortical cysts, Failure to thrive	OMIM:211750
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Bardet-Biedl Syndrome 19	Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hydronephrosis	OMIM:615996
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Joubert Syndrome 20	Renal cyst	OMIM:614970
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia	ORPHA:172
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts	ORPHA:2924
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
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
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Obesity, Macroscopic hematu...	ORPHA:251004
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren...	OMIM:243910
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono...	OMIM:616217
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts	OMIM:615415
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Short stature, Rhizomelic leg shortening, Renal cortical cysts,...	ORPHA:397715
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Renal Hypoplasia, Bilateral	Failure to thrive, Proteinuria, Short stature, Small for gestational age, Chronic kidney disease,...	ORPHA:97362
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Short stature, Pancreatitis, Nephrolithiasis, Gout, Growth delay, Foca...	OMIM:232200
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity	OMIM:616629
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Short stature, Thyroiditis, Nephrolithiasis, Stage 5 chronic kidney di...	ORPHA:79259
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Short stature, Renal hypoplasia/aplasia	ORPHA:1166
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn...	OMIM:608022
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag...	OMIM:216360
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Jeune Syndrome	Nephropathy, Renal insufficiency, Short stature, Nephronophthisis	ORPHA:474
Williams-Beuren Region Duplication Syndrome	Short stature, Small for gestational age, Unilateral renal agenesis, Patent ductus arteriosus, Ch...	OMIM:609757
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati...	ORPHA:79397
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Short stature, Hydronephrosis, Decreased body weight	OMIM:618265
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections, Failure to thrive, Hydrone...	OMIM:619218
Joubert Syndrome 18	Intrauterine growth retardation, Renal cyst, Horseshoe kidney	OMIM:614815
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy...	ORPHA:3467
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Pancreatitis, Nephrolithiasis, Gout, Foca...	OMIM:232220
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Failure to thriv...	OMIM:214100
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Patent ductus a...	OMIM:208540
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumat...	ORPHA:79128
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycystic kidney dyspla...	OMIM:145001
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic...	OMIM:617303
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Axial Osteomalacia	Renal cyst	OMIM:109130
Verheij Syndrome	Short stature, Renal agenesis, Small for gestational age, Renal hypoplasia, Renal cyst, Growth de...	OMIM:615583
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Tetraploidy	Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Hypospadias, Small for gestational age, Splenomegaly, Renal cyst, Hepatosplenomegal...	OMIM:614866
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir...	OMIM:614922
Trichohepatoenteric Syndrome 1	Hepatomegaly, Short stature, Hypospadias, Small for gestational age, Splenomegaly, Galactosuria, ...	OMIM:222470
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Distal Duplication 6P	Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati...	ORPHA:1745
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Cardio...	OMIM:608836
Campomelia, Cumming Type	Pancreatic cysts, Short stature, Polycystic kidney dysplasia	OMIM:211890
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Silver-Russell Syndrome Due To A Point Mutation	Small placenta, Oligohydramnios	ORPHA:397590
Spondyloenchondrodysplasia With Immune Dysregulation	Short stature, Pneumonia, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media, Juve...	OMIM:607944
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Growth delay, Renal Fanconi sy...	OMIM:276700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small placenta	ORPHA:73272
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Joubert Syndrome 37	Hepatomegaly, Short stature, Obesity, Micropenis, Hydronephrosis	OMIM:619185
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Recombinant Chromosome 8 Syndrome	Growth delay, Patent ductus arteriosus, Postnatal growth retardation, Hydronephrosis	OMIM:179613
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis	OMIM:613735
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Prune Belly Syndrome	Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity	OMIM:615989
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Nephronophthisis	OMIM:615630
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Proximal tubulopathy, Renal cyst	OMIM:602579
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Hydronephrosis	OMIM:620141
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Tetrasomy 15Q26	Intrauterine growth retardation, Patent ductus arteriosus, Hydronephrosis, Horseshoe kidney	OMIM:614846
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis...	OMIM:613095
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Giant cell hepatitis, Postnatal growth retardation, Renal cyst, Failure...	ORPHA:79303
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Failure to thrive, Hydronephrosis	ORPHA:488613
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Obesity, Nephrotic syndrome	ORPHA:110
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation	ORPHA:2222
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Netherton Syndrome	Short stature, Eczema, Skin rash, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Toluene Embryopathy	Short stature, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Hematuria, Growth delay, Nephritis	OMIM:614034
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Hydronephrosis	ORPHA:531151
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Growth delay, Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis	OMIM:617219
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Polyhydramnios	ORPHA:254534
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Proportionate short stature, Seborrheic dermati...	ORPHA:488618
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Dilatation of the...	ORPHA:314588
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
X-Linked Agammaglobulinemia	Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Mody	Abnormality of the kidney, Large for gestational age, Overweight, Obesity, Renal cyst, Glycosuria...	ORPHA:552
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
H Syndrome	Psoriasiform dermatitis, Short stature, Abnormality of the kidney, Bronchiectasis, Hepatosplenome...	ORPHA:168569
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Meckel Syndrome, Type 2	Intrauterine growth retardation, Renal cyst	OMIM:603194
Gapo Syndrome	Growth delay, Hepatomegaly, Tubulointerstitial fibrosis	OMIM:230740
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short stature, Patent ductus arteriosus, Urethral stenosis, ...	ORPHA:261290
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Renal cyst	ORPHA:2031
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different...	OMIM:618541
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis	OMIM:602152
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Immunodeficiency 96	Growth delay, Multicystic kidney dysplasia, Recurrent otitis media, Eczema	OMIM:619774
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Harrod Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Failure to thrive, Hypospadias	ORPHA:2115
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Igg4-Related Aortitis	Increased inflammatory response, Hydronephrosis, Weight loss	ORPHA:449400
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Postnatal growth retardation, Intrauteri...	OMIM:617093
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Patent...	ORPHA:2473
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,...	ORPHA:18
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Obesity, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis	OMIM:615926
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Trisomy 13	Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displacement of the ur...	ORPHA:3378
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Intrauterine growth retardation, Abnormal medullary pyramid morphology...	ORPHA:79243
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Severe p...	ORPHA:2237
Femoral-Facial Syndrome	Short stature, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycystic ...	ORPHA:1988
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Meckel Syndrome, Type 4	Intrauterine growth retardation, Renal cyst	OMIM:611134
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Stage 5 chronic kidney ...	OMIM:614376
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney, Seborrheic dermatitis	ORPHA:276280
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hypospadias, Hydronephrosis	OMIM:220210
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia	OMIM:607361
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylglutaconic aciduria	ORPHA:445038
Wolfram Syndrome 1	Growth delay, Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete...	ORPHA:261265
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Recurrent pneumonia, Short stature, Hydronephrosis	OMIM:619179
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Patent ductus art...	ORPHA:391641
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
22Q11.2 Duplication Syndrome	Growth delay, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Ovarian cyst, Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Alstrom Syndrome	Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Short stature, Recurrent pneumonia, ...	OMIM:203800
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Odontochondrodysplasia 1	Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd...	ORPHA:1297
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Pancreatic cysts, Splenomeg...	ORPHA:731
Kury-Isidor Syndrome	Growth delay, Recurrent otitis media, Hydronephrosis	OMIM:619762
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoa...	OMIM:208085
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Small for gestational age, Cardiomegaly, Intrauterine growth retardation, Micropenis...	OMIM:616897
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc...	ORPHA:508
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas...	OMIM:617595
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Al-Gazali Syndrome	Failure to thrive, Recurrent pneumonia, Hydronephrosis	OMIM:609465
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis	OMIM:618950
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Failure to thrive, Hydron...	ORPHA:912
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur...	OMIM:615398
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Short stature, Hydronephrosis, Slender build	ORPHA:364028
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Intrauterine growth retardation, Failure to thri...	ORPHA:2315
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Recurrent otitis media, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Short stature, Pancreatic cysts, Chronic kidney disease, Renal ...	OMIM:208500
Meacham Syndrome	Patent ductus arteriosus, Horseshoe kidney, Stillbirth, Neonatal death, Enlarged kidney	OMIM:608978
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Patent ductus arteriosus, Hydronephrosis	OMIM:620327
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne...	ORPHA:505248
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Hypospadias, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia	OMIM:614091
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Failure to thrive in infancy, Hemoly...	OMIM:611209
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Hypospadias, Short stature, Small for gestational age...	OMIM:301056
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Cystic Echinococcosis	Hepatomegaly, Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Zaki Syndrome	Patent ductus arteriosus, Renal agenesis, Hydronephrosis, Short stature	OMIM:619648
Braddock-Carey Syndrome 1	Growth delay, Multicystic kidney dysplasia	OMIM:619980
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy	OMIM:618829
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Severe postnatal gro...	OMIM:252500
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Short stature, Renal cyst, Horseshoe kidney	ORPHA:166035
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Mesomelia-Synostoses Syndrome	Short stature, Hydronephrosis	ORPHA:2496
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Intellectual Disability, Buenos-Aires Type	Short stature, Hydronephrosis	ORPHA:3079
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Trisomy 1Q	Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Joubert Syndrome 39	Overweight, Polycystic kidney dysplasia	OMIM:619562
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hepatosplenomegaly, Growth delay, Esophagitis, Intrauterine growth ...	ORPHA:541423
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Short stature, Renal hypopl...	OMIM:618460
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Growth delay, Patent ductus arteriosus, Short stature, Hydronephrosis	ORPHA:457193
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid...	ORPHA:500095
Microphthalmia, Syndromic 9	Renal malrotation, Severe short stature, Short stature, Patent ductus arteriosus, Renal hypoplasi...	OMIM:601186
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Micro Syndrome	Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin...	ORPHA:2510
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Chronic otitis media, Obesi...	ORPHA:261494
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
Baller-Gerold Syndrome	Short stature, Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of ...	ORPHA:1225
Tarp Syndrome	Horseshoe kidney, Neonatal death, Intrauterine growth retardation, Failure to thrive, Hydronephrosis	OMIM:311900
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Noonan Syndrome 4	Ureteral duplication, Short stature, Hydronephrosis, Large for gestational age	OMIM:610733
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Renal hypoplasia, Hors...	OMIM:266810
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst, Hepatomegaly	OMIM:601539
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short stature, Small for gestational a...	OMIM:257300
Timothy Syndrome	Hypocalcemia	OMIM:601005
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne...	ORPHA:2552
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Hypocalcemia	OMIM:618440
Melnick-Needles Syndrome	Vesicoureteral reflux, Short stature, Hydronephrosis	ORPHA:2484
Campomelia, Cumming Type	Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Postnatal growth retardation, Intrauterine growth retardation, Micropenis, Hydrone...	OMIM:612513
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen...	ORPHA:37042
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl...	ORPHA:158684
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Hydronephrosis, Erythroderma	ORPHA:35173
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Obesity, Growth delay, Periodontitis, Moderate albuminuria, Hydronep...	OMIM:619269
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst	OMIM:615560
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Genitopatellar Syndrome	Multicystic kidney dysplasia, Short stature, Hydronephrosis	ORPHA:85201
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor...	OMIM:614527
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Rhizomelia, Ureteral hypoplasia, Hepatic cysts, Abnormal...	ORPHA:79328
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postnatal growth retardation, Erythroderma, Failure to thrive, Hydronephrosis	OMIM:302960
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Aminoaciduria, Polycystic kidney dysplasia, Intrauterine growth retardation, Failur...	OMIM:214110
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short stature, Renal cyst, Horseshoe kidney	OMIM:250410
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo...	ORPHA:139402
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Recurrent otitis media, Hydronephrosis	OMIM:154230
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
3C Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Postnatal growth retardation, Hydronephrosis	ORPHA:7
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Growth delay, Short stature, Glandular hypospadias	ORPHA:1358
Joubert Syndrome 14	Growth delay, Renal cyst	OMIM:614424
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Nephro...	ORPHA:116
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Patent ...	OMIM:146510
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Failure to thrive, Hepatomegaly	OMIM:614582
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Short stature, Small for gestational age, Vesicoureteral ...	OMIM:300707
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Short stature, Cardiomegaly, Hepatitis, Chronic hepatitis, Growth delay, Delayed pu...	OMIM:614921
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Renal artery steno...	OMIM:617913
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst...	OMIM:220500
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Short stature, Splenomegaly, Growth delay, Intrauterine growth ...	OMIM:608779
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Ren...	ORPHA:3015
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
1Q21.1 Microdeletion Syndrome	Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Intrauterine growth retardation, ...	ORPHA:250989
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:568
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Patent duct...	ORPHA:464311
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Short stature, Vesicoureteral reflux, Hydronephrosis, Renal du...	ORPHA:96169
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Abnormal renal morphology, Hepatospleno...	ORPHA:1655
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Growth delay, Intrauterine growth retardation, Failure to thrive, H...	ORPHA:261349
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Short stature, Renal dysplasia, Renal cyst	OMIM:617260
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature	OMIM:616901
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Patent ductus arteriosus, Horseshoe kidney, Multiple renal ...	ORPHA:99776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Pate...	OMIM:614080
Pelvis-Shoulder Dysplasia	Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor...	ORPHA:2839
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Short stature, Eczema, Small for gestational age, Patent duct...	OMIM:610443
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis	ORPHA:254528
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Ureteral triplication, Hydronephrosis	OMIM:104350
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Eczema, Obesity, Nephroblastoma	ORPHA:1001
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Abnormality of body weight, Enlarged polycys...	ORPHA:2298
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Short stature, Obesity, Enuresis nocturna, Truncal obesity, I...	OMIM:615873
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia	OMIM:618975
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Hypospadias, Short stature, Unilateral renal agenesis, Eczema, Small for gesta...	ORPHA:464306
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Cat Eye Syndrome	Renal agenesis, Short stature, Patent ductus arteriosus, Horseshoe kidney, Vesicoureteral reflux,...	OMIM:115470
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Patent ductus arteriosus, Horseshoe kidney, Failure t...	OMIM:306955
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Growth delay, Short stature, Dysuria	ORPHA:101000
Pseudo-Torch Syndrome 2	Hepatomegaly, Patent ductus arteriosus, Abnormal renal corticomedullary differentiation	OMIM:617397
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti...	OMIM:251000
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Neu-Laxova Syndrome 1	Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar...	OMIM:256520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Polycystic kidney dysplasia,...	OMIM:610199
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Obesity	ORPHA:261197
Carpenter Syndrome 1	Hydroureter, Short stature, Patent ductus arteriosus, Obesity, Hydronephrosis	OMIM:201000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Growth delay, Recurrent otitis media, Renal hypoplasia, Absence of renal corticomedullary differe...	OMIM:619758
Ogden Syndrome	Global glomerulosclerosis, Short stature, Eczema, Cardiomegaly, Postnatal growth retardation, Pat...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Micropenis, Hydronephrosis	OMIM:617798
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, E...	ORPHA:26791
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena...	OMIM:619351
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo	OMIM:221350
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Fa...	OMIM:212065
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski...	ORPHA:900
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Perianal abscess, Splenomegaly, Patent ductus a...	OMIM:612541
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Erysi...	OMIM:235510
Alveolar Echinococcosis	Cholangitis, Pancreatic cysts, Renal cyst, Weight loss, Abnormal bladder morphology, Hepatic cyst...	ORPHA:284
Marcus-Gunn Syndrome	Postnatal growth retardation, Nephrolithiasis	ORPHA:91412
Stromme Syndrome	Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hydronephrosis	ORPHA:1780
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Restrictive Dermopathy	Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o...	ORPHA:1662
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Atelosteogenesis Type I	Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts	ORPHA:1190
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Hydronephrosis	ORPHA:35687
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mosaic Trisomy 8	Vesicoureteral reflux, Short stature, Hydronephrosis	ORPHA:96061
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureter...	OMIM:618454
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten...	OMIM:192350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Growth delay, Failure to thrive, Hydronephrosis	ORPHA:2995
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hypokalemi...	ORPHA:699
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Distal Deletion 12Q	Late onset atopic dermatitis, Short stature, Failure to thrive in infancy, Ectopic kidney, Patent...	ORPHA:96149
Teebi-Shaltout Syndrome	Ureteral stenosis, Short stature, Hydronephrosis, Horseshoe kidney	OMIM:272950
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Growth delay, Micropenis, Hydronephrosis	OMIM:301040
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth	OMIM:616300
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retarda...	ORPHA:314585
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor...	ORPHA:2322
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ureteropelvic junction obstruction...	ORPHA:444072
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Patent ductus arteriosus, Short stature, Renal dysplasia	OMIM:300968
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney...	ORPHA:847
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ureter, Renal dys...	OMIM:617107
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn...	ORPHA:2953
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten...	ORPHA:33001
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Short stature, Ectopic kidney, Pneumonia, Abnormal renal morphology, Ve...	OMIM:122470
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k...	ORPHA:2538
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:247262
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnormality of t...	ORPHA:369837
Campomelic Dysplasia	Short stature, Hydronephrosis	ORPHA:140
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Anemia	OMIM:241500
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Failure to thrive, Short stature, Rhizomelia, Cholangitis, Pa...	OMIM:266920
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Craniofacioskeletal Syndrome	Hypospadias, Short stature, Patent ductus arteriosus, Intrauterine growth retardation, Hydronephr...	OMIM:300712
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy	ORPHA:1454
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Intrauterine growth retardation, Failure to thrive, Abnormal bladder morph...	ORPHA:453499
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
3Mc Syndrome 1	Growth delay, Patent ductus arteriosus, Postnatal growth retardation, Hydronephrosis	OMIM:257920
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Short stature, Recurrent pneumonia, Bronchiectasis...	OMIM:251260
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Intermediate Generalized Junctional Epidermolysis Bullosa	Abnormality of skin pigmentation	ORPHA:79402
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Short stature, Small for gestational age, Postnatal gr...	ORPHA:1596
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Unilateral renal agenesis, Mild intrauterine growth retardation, Stillbirth, Hydro...	OMIM:308050
Syndromic Diarrhea	Hepatomegaly, Short stature, Gastritis, Small for gestational age, Splenomegaly, Patent ductus ar...	ORPHA:84064
Tarp Syndrome	Intrauterine growth retardation, Failure to thrive, Hydronephrosis, Horseshoe kidney	ORPHA:2886
Trisomy 18	Short stature, Abnormality of the upper urinary tract, Cachexia, Growth delay, Intrauterine growt...	ORPHA:3380
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia	ORPHA:163979
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Hepa...	ORPHA:470
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Hydronephrosis	ORPHA:210122
D-Bifunctional Protein Deficiency	Splenomegaly, Hepatomegaly, Failure to thrive, Renal cyst	OMIM:261515
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Short stature, Abnormality of the kidney	ORPHA:459061
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Horseshoe kidne...	ORPHA:2092
Hajdu-Cheney Syndrome	Short stature, Hypospadias, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia, Fa...	OMIM:102500
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia	ORPHA:544482
Cartilage-Hair Hypoplasia	Hypocalcemia, Anemia, Neutropenia	ORPHA:175
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Recurrent otitis media, Hydronephrosis	OMIM:619426
Zygomycosis	Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Severe short stature, Recurrent pneumonia, Pyelonephritis, Ur...	ORPHA:90349
Cockayne Syndrome Type 3	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retarda...	ORPHA:90324
Caroli Disease	Hepatomegaly, Cholangitis, Splenomegaly, Weight loss, Polycystic kidney dysplasia	ORPHA:53035
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Patent ductus arteriosus, Patent urachus, Micropenis, Enlarged kidney	OMIM:618280
Raine Syndrome	Neonatal death, Hydroureter, Short stature, Hydronephrosis	OMIM:259775
Cardiofaciocutaneous Syndrome 1	Short stature, Splenomegaly, Atopic dermatitis, Failure to thrive, Hydronephrosis	OMIM:115150
Eec Syndrome	Hypospadias, Short stature, Renal hypoplasia/aplasia, Keratitis, Inflammatory abnormality of the ...	ORPHA:1896
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches	ORPHA:626
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Darier Disease	Abnormality of skin pigmentation, Hypermelanotic macule	ORPHA:218
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Short stature, Small for gestational age, Dilatation of the renal pe...	ORPHA:2044
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Chronic sinusitis, Renal cyst	OMIM:615636
Otopalatodigital Syndrome Type 2	Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction	ORPHA:90652
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia, Intr...	ORPHA:1556
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature	ORPHA:1393
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy...	ORPHA:199299
Cousin Syndrome	Disproportionate short stature, Rhizomelia, Hydronephrosis	OMIM:260660
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep...	ORPHA:533
7Q11.23 Microduplication Syndrome	Hypospadias, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Obesity, Growth ...	ORPHA:96121
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys...	OMIM:606232
Melnick-Needles Syndrome	Ureteral stenosis, Stillbirth, Recurrent otitis media, Failure to thrive, Hydronephrosis	OMIM:309350
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,...	OMIM:616580
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Cardiofaciocutaneous Syndrome	Short stature, Hydronephrosis, Failure to thrive in infancy	ORPHA:1340
Kagami-Ogata Syndrome	Large placenta, Premature birth, Polyhydramnios	ORPHA:254519
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia, Neonatal death, Intrauter...	OMIM:269860
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Failure to thrive	ORPHA:137675
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha...	OMIM:215140
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Stillbi...	OMIM:229850
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Micropenis, Failure to...	OMIM:269150
Mosaic Trisomy 16	Single umbilical artery, Large placenta, Patent ductus arteriosus, Premature birth	ORPHA:1708
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Patent ductus arteriosus, Renal cyst, Duplication of ren...	OMIM:312870
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalci...	OMIM:227810
Monosomy 22Q13.3	Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephrit...	ORPHA:48652
Cerebrocostomandibular Syndrome	Ectopic kidney, Postnatal growth retardation, Patent ductus arteriosus, Horseshoe kidney, Renal cyst	OMIM:117650
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Dubowitz Syndrome	Hypospadias, Short stature, Eczema, Postnatal growth retardation, Intrauterine growth retardation...	ORPHA:235
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati...	ORPHA:83617
Opitz Gbbb Syndrome	Enlarged ovaries, Hypospadias, Short stature, Patent ductus arteriosus, Abnormality of the urinar...	ORPHA:2745
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis	OMIM:181270
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena...	OMIM:270400
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Growth delay, Ureteropelvic junction obstruction, Failure to thrive, Hydronep...	OMIM:616973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl...	ORPHA:280633
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Postnatal growth retardation, Patent ductus arteriosus, H...	ORPHA:487796
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Cutis Laxa, Autosomal Recessive, Type Ic	Recurrent pneumonia, Growth delay, Multiple bladder diverticula, Hydronephrosis, Right ventricula...	OMIM:613177
Lead Poisoning	Skin rash, Small for gestational age, Chronic kidney disease, Renal tubular dysfunction, Tubuloin...	ORPHA:330015
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Chronic otitis ...	ORPHA:2750
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral reflux, Intraute...	OMIM:616975
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation	OMIM:613988
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Robinow Syndrome	Multicystic kidney dysplasia, Short stature, Small for gestational age, Webbed penis, Micropenis,...	ORPHA:97360
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Trisomy 10P	Small for gestational age, Abnormality of the kidney, Growth delay, Multiple renal cysts, Intraut...	ORPHA:171929
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Jacobsen Syndrome	Multicystic kidney dysplasia, Short stature, Eczema, Growth delay, Intrauterine growth retardatio...	ORPHA:2308
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Bladder ...	ORPHA:90348
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Hennekam Syndrome	Splenomegaly, Lymphopenia, Hypocalcemia	ORPHA:2136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Apert Syndrome	Chronic otitis media, Rhizomelic arm shortening, Acne, Hydronephrosis	OMIM:101200
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Disproportionate short-limb short stature, Chr...	ORPHA:1507
Acrorenal-Mandibular Syndrome	Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidney dysplasia, I...	OMIM:200980
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ...	ORPHA:818
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal...	OMIM:619991
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Rhizomelia, Short stature, Cholangitis, Splenomegaly, Patent d...	OMIM:613610
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Growth delay, Ureteral obstruction	OMIM:304150
Robinow Syndrome, Autosomal Recessive 1	Short stature, Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Mesomelia-Synostoses Syndrome	Mesomelic short stature, Hydronephrosis	OMIM:600383
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Eczema, Small for gestational age, Postnatal gro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Eczema, Small for gestational age, Postnatal gro...	ORPHA:363958
Spondylocarpotarsal Synostosis Syndrome	Disproportionate short-trunk short stature, Renal cyst	OMIM:272460
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Short stature, Pneumonia, Patent ductus arterios...	ORPHA:353281
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t...	ORPHA:91500
Degcags Syndrome	Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplas...	OMIM:619488
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Renal cell carcinoma, Multip...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Cheilitis, Proteinuria, Short stature, Proximal renal tubula...	ORPHA:534
Pagod Syndrome	Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia	ORPHA:991
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,...	OMIM:275210
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the up...	ORPHA:2273
Trisomy 8P	Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis	ORPHA:264450
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay	ORPHA:1826
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
22Q11.2 Deletion Syndrome	Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	ORPHA:567
Schinzel-Giedion Syndrome	Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ureter, Nephro...	ORPHA:798
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Patent duct...	OMIM:619522
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Short stature, Growth delay, Intrauterine growth retardation, Nephr...	ORPHA:1052
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Caroli Syndrome	Hepatomegaly, Abnormality of the kidney, Cholangitis, Polycystic kidney dysplasia, Pancreatitis	ORPHA:480520
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Short stature, Hydronephrosis	OMIM:610682
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Patent ductus arteriosus, Multiple renal ...	ORPHA:955
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Multicystic kidney dysplasia, Failure to thrive, Short stature	OMIM:300373
Roberts Syndrome	Postnatal growth retardation, Long penis, Severe intrauterine growth retardation, Polycystic kidn...	ORPHA:3103
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Digeorge Syndrome	Renal insufficiency, Short stature, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Splen...	OMIM:188400
Orofaciodigital Syndrome I	Short stature, Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic ...	OMIM:311200
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Horseshoe kidney, Ar...	ORPHA:3310
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Patent ductus arterio...	ORPHA:1606
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal...	ORPHA:709
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Oliguria, Acute tubul...	ORPHA:340
Floating-Harbor Syndrome	Hypospadias, Short stature, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Congenita...	OMIM:136140
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Knobloch Syndrome 1	Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Disproportionate short stature, Renal hypoplasia, Renal cyst, Severe postnatal growth retardation...	OMIM:210710
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Hepatomegaly, Large for gestational age, Ureteropelvic junction obs...	OMIM:280000
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Charge Syndrome	Short stature, Postnatal growth retardation, Patent ductus arteriosus, Horseshoe kidney, Delayed ...	ORPHA:138
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Kabuki Syndrome 1	Crossed fused renal ectopia, Short stature, Postnatal growth retardation, Micropenis, Growth dela...	OMIM:147920
C Syndrome	Multicystic kidney dysplasia, Short stature, Failure to thrive in infancy, Renal hypoplasia/aplas...	ORPHA:1308
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Keratoconjunctivitis sicca, Hypospadias, Renal cyst	ORPHA:495875
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Small for gestational age, H...	ORPHA:506358
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Patent ductus arteriosus, Breech presentation, Anencepha...	OMIM:249000
Okamoto Syndrome	Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Severe postnatal growth retardat...	ORPHA:2729
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproportionate short...	ORPHA:93271
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Patent ductus arteriosus, Growth delay, Recurrent otitis medi...	OMIM:616268
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Growth delay, Hydronephrosis	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Growth delay, Hydronephrosis	ORPHA:352665
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Patent ductus arteriosus, Dilatation of the renal pelvis, Dilatation of...	OMIM:265380
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Pneumo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Pneumo...	ORPHA:353277
Addison Disease	Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr...	ORPHA:2636
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Stillbirth, Hypospadias, Hydronephrosis	OMIM:236680
Campomelic Dysplasia	Hypospadias, Neonatal short-limb short stature, Disproportionate short-limb short stature, Failur...	OMIM:114290
Rubinstein-Taybi Syndrome 1	Hypospadias, Short stature, Small for gestational age, Postnatal growth retardation, Patent ductu...	OMIM:180849
Waardenburg Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature...	ORPHA:3440
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Hypomagnesemia, Hypocalcemia, Hepatosplenomegaly	OMIM:619503
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Patent duc...	OMIM:135900
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Femoral-Facial Syndrome	Short stature, Renal agenesis, Abnormal renal collecting system morphology, Polycystic kidney dys...	OMIM:134780
Ulbright-Hodes Syndrome	Abnormal penis morphology, Postnatal growth retardation, Renal hypoplasia, Birth length less than...	ORPHA:3404
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Recurrent skin infections, Hydronephrosis	OMIM:601776
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Short statu...	OMIM:308205
Meckel Syndrome	Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Lacrimoauriculodentodigital Syndrome	Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis...	ORPHA:2363
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short statur...	ORPHA:199
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Hydronephrosis	ORPHA:363700
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Rhizomelia, Postnatal growth retardation, Patent ductus arteri...	OMIM:261540
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Robinow Syndrome, Autosomal Dominant 1	Rhizomelia, Short stature, Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Premature birth, Polyhydramnios, Large placenta, Spinal dysraphism, Pulmonary arterial hypertensi...	ORPHA:96334
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Failure to thrive, Hypospadias, Short stature, Recurrent skin...	ORPHA:3455
Pheochromocytoma	Hypercalcemia	OMIM:171300
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Hepatomegaly, Renal insufficiency, Failure to thrive, Short stature, Splenomegaly, Pa...	OMIM:619534
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Patent ductus arteriosus, Nephrolithiasis, Aspiration pneumonia, Vesicoureteral re...	ORPHA:438213
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Otopalatodigital Syndrome, Type Ii	Hypospadias, Short stature, Postnatal growth retardation, Stillbirth, Hydronephrosis	OMIM:304120
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi...	ORPHA:904
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Johanson-Blizzard Syndrome	Hepatomegaly, Short stature, Hypospadias, Urethrovaginal fistula, Small for gestational age, Sple...	OMIM:243800
Vipoma	Normochromic anemia, Hypokalemia, Hypercalcemia	ORPHA:97282
Focal Dermal Hypoplasia	Ureteral duplication, Short stature, Horseshoe kidney, Bifid ureter, Hydronephrosis	OMIM:305600
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Delayed...	ORPHA:480880
Glucagonoma	Normochromic anemia, Hypercalcemia, Acanthocytosis	ORPHA:97280
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neonatal death, Failure...	OMIM:124000
Charge Syndrome	Renal agenesis, Postnatal growth retardation, Patent ductus arteriosus, Renal hypoplasia, Horsesh...	OMIM:214800
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Postnatal growth retardation, Renal cyst, Intrauterine growth retard...	OMIM:113620
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Short...	ORPHA:2152
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Proteus Syndrome	Cachexia, Enlarged polycystic ovaries, Splenomegaly, Long penis, Renal cyst	ORPHA:744
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hypocalcemic seizures, Anemia	OMIM:612301
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature...	ORPHA:261537
Roberts-Sc Phocomelia Syndrome	Hypospadias, Postnatal growth retardation, Patent ductus arteriosus, Long penis, Horseshoe kidney...	OMIM:268300
Sarcoidosis	Hepatomegaly, Renal insufficiency, Maculopapular exanthema, Erythema nodosum, Nephrolithiasis, Hy...	ORPHA:797
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature...	ORPHA:261552
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	ORPHA:79078
Viss Syndrome	Chronic gastritis, Short stature, Eczema, Patent ductus arteriosus, Atopic dermatitis, Failure to...	OMIM:619472
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Ppoma	Hypercalcemia	ORPHA:97278
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Grfoma	Hypercalcemia	ORPHA:97261
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Vesicoure...	OMIM:164210
Pallister-Killian Syndrome	Hypospadias, Rhizomelia, Mesomelic/rhizomelic limb shortening, Patent ductus arteriosus, Obesity,...	OMIM:601803
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Pmm2-Cdg	Pericarditis, Proteinuria, Nephrotic syndrome, Multiple renal cysts, Aspiration pneumonia, Failur...	ORPHA:79318
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050

Histopathology

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

There is no histopathology data for Fryl

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 Fryl.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Fryl^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Fryl^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Fryl^{tm1a(KOMP)Wtsi} Fryl^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Fryl^{tm1a(KOMP)Wtsi} Fryl^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Fryl^{tm1b(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Fryl^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Fryl^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Fryl^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: Fryl MGI:1919563

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

DSS Histology

Anti-nuclear antibody assay

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Fryl mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data