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Gene: Wwtr1 MGI:1917649

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

WW domain containing transcription regulator 1

Synonyms:

TAZ, transcriptional coactivator with PDZ binding motif, 2310058J06Rik, 2610021I22Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wwtr1 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 Wwtr1 (0 diseases)
Human diseases predicted to be associated with Wwtr1 (1473 diseases)

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

The table below shows human diseases predicted to be associated to Wwtr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i...	ORPHA:2111
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre...	OMIM:618913
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, ...	OMIM:619468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Autosomal Recessive Spastic Paraplegia Type 70	Nephrotic syndrome, Abnormal pulmonary interstitial morphology	ORPHA:401835
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Alpha-1-Antitrypsin Deficiency	Nephrotic syndrome, Emphysema, Hepatitis, Hepatomegaly	ORPHA:60
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu...	OMIM:616371
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Obesity, Renal cyst	OMIM:615987
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pul...	OMIM:612387
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br...	OMIM:613490
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary...	OMIM:616414
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Renal cell carcinoma, Pulmonary sequestration	ORPHA:122
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O...	OMIM:615993
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in...	OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati...	OMIM:263200
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency	OMIM:178550
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,...	ORPHA:79128
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome...	ORPHA:36412
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Aminoaciduria, Eryth...	ORPHA:634
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Hematur...	ORPHA:90060
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Hypersensitivity pneum...	ORPHA:1163
Alport Syndrome	Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi...	ORPHA:63
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Pulmonary cyst, Enlarged kidney	OMIM:618272
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical ...	OMIM:231680
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen...	ORPHA:3033
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Erysipelas, Pulmonary fibrosis, Restrictive ventilatory defect	OMIM:615704
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect...	ORPHA:210136
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis, Unilateral re...	ORPHA:52047
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Hereditary Mucoepithelial Dysplasia	Hematuria, Recurrent respiratory infections, Pulmonary fibrosis, Abnormality of the bladder	ORPHA:1839
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly,...	ORPHA:47612
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema	OMIM:618307
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, U...	OMIM:618935
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortica...	OMIM:611555
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria	ORPHA:2613
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth...	OMIM:619644
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren...	OMIM:243910
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Idiopathic Achalasia	Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough	ORPHA:930
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cough, Reticular pattern on pulmonary HRCT...	OMIM:614742
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Meckel Syndrome 13	Flexion contracture, Ataxia, Polycystic kidney dysplasia	OMIM:617562
Lessel-Kubisch Syndrome	Hypogonadism, Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Senior-Loken Syndrome	Premature ovarian insufficiency, Short stature, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:3156
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:567548
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Renal cyst, Epiphyseal stippling	OMIM:614870
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, P...	OMIM:184260
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
2p15-16.1 microdeletion syndrome	Feeding difficulties in infancy, Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe...	OMIM:615872
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Cystic ren...	OMIM:615415
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Dyspnea, Abnormal pulmonary interst...	OMIM:607616
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Pneumonia	OMIM:247800
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio...	ORPHA:251004
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, P...	OMIM:242700
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R...	OMIM:608971
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypogonadism	OMIM:615982
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Pu...	OMIM:618394
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Glycogen Storage Disease Iv	Hepatosplenomegaly, Failure to thrive, Arthrogryposis multiplex congenita, Tubulointerstitial fib...	OMIM:232500
Polymyositis	Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency...	ORPHA:732
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Dyspnea, Oliguria, Arthritis, Pulmonary fibrosis, Pulmonary arterial hyperte...	ORPHA:220393
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstit...	ORPHA:79259
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Renal angi...	ORPHA:538
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormality of body height, Nephronophthisis	ORPHA:140976
Mixed Connective Tissue Disease	Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Dyspnea, Myocarditis, A...	ORPHA:809
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia	ORPHA:3032
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged kidney	OMIM:314390
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Pulmonary fibrosis	ORPHA:220402
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Retrograde ejaculation, Hashimoto thyroidi...	ORPHA:49041
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:263210
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Gr...	OMIM:232200
Congenital Disorder Of Glycosylation, Type If	Ataxia, Flexion contracture, Renal cortical cysts, Feeding difficulties, Erythroderma	OMIM:609180
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Multiple lipomas,...	OMIM:135150
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Micropenis, Pulmonary fibrosis	ORPHA:457240
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi...	OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia, Death in childhood	OMIM:609528
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Secondary amenorrhea, Joint hyperflexibil...	ORPHA:3375
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ...	ORPHA:90117
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti...	ORPHA:81
Peroxisome Biogenesis Disorder 3A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Poor suck, Polycystic kidney dysplasia	OMIM:614859
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis	OMIM:269840
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res...	OMIM:619632
Microlissencephaly	Pneumonia	ORPHA:1083
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Renal Tubular Dysgenesis	Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot...	OMIM:267430
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Ciliary Dyskinesia, Primary, 9	Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri...	OMIM:612444
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Recurrent respiratory infections, Emphysema	OMIM:219100
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Proteinuria, Recurrent bron...	OMIM:617303
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff...	OMIM:608022
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Chronic ...	ORPHA:900
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Interstitial Lung And Liver Disease	Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial m...	OMIM:615486
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithi...	OMIM:232220
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Iridocyclitis, Bronchiectasis, Abnormal pulmonary...	OMIM:181000
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo...	ORPHA:420741
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Epistaxis, Restrictive ventilatory defect, Inflammation of the large intesti...	OMIM:203300
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Ureteral atresi...	OMIM:208540
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia	OMIM:618806
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Nephronophthisis	Renal insufficiency	ORPHA:655
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Dyspnea, Abnormal pulmonary interstitial ...	ORPHA:35687
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder divert...	OMIM:613177
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom...	ORPHA:2924
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephr...	ORPHA:330001
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Cryptorch...	ORPHA:97362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Hepatomegaly, Chronic mucocutaneous candidiasis, Hepatosplenome...	ORPHA:79124
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media	OMIM:312863
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Splenomegaly, Bronchiectasis, Restrictive ventilator...	ORPHA:1572
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Dent Disease 1	Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri...	OMIM:300009
Fanconi Anemia, Complementation Group O	Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron...	OMIM:613390
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis	OMIM:614743
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Rigid Spine Syndrome	Waddling gait, Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexi...	ORPHA:97244
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy	OMIM:275300
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Dilatation of the renal pelvis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee f...	OMIM:619708
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Joint laxity, Disproportionate tall stature, Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur...	ORPHA:449395
Hermansky-Pudlak Syndrome 4	Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect	OMIM:614073
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Pulmonary hypoplasia...	ORPHA:314588
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Mpdu1-Cdg	Feeding difficulties, Eczema, Renal cortical cysts, Nasogastric tube feeding	ORPHA:79323
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossific...	OMIM:300554
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine growth retardation, Micropenis, F...	OMIM:613861
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,...	OMIM:607944
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Tetraploidy	Aplasia/Hypoplasia of the lungs, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia...	ORPHA:209905
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Congenital Myopathy 19	Respiratory insufficiency due to muscle weakness, Renal atrophy, Respiratory insufficiency, Conge...	OMIM:618578
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:614091
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d...	ORPHA:79147
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Respiratory insufficiency, Multiple renal cysts, Vesicoureteral reflux,...	ORPHA:1166
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Dyspnea, Hepatosplenomegaly,...	ORPHA:464329
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death...	OMIM:236500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Systemic Capillary Leak Syndrome	Renal insufficiency, Pulmonary edema, Pericarditis, Rhinorrhea, Myocarditis, Oliguria, Cardioresp...	ORPHA:188
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr...	OMIM:614455
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea, Hepatomegaly, Lo...	OMIM:608836
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Eczema, Oligoarthritis, Pulmonary fibrosis, Erythroderma	OMIM:619510
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Ciliary Dyskinesia, Primary, 41	Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ...	OMIM:618449
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	ORPHA:85285
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Immunodeficiency 13	Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron...	OMIM:615518
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os...	ORPHA:90291
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Mosaic Trisomy 1	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,...	ORPHA:1692
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Failure to thrive, Hyperammonemia	ORPHA:28
Macdermot-Winter Syndrome	Death in infancy, Hydronephrosis	OMIM:247990
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal corti...	ORPHA:397715
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Restrictive ventilatory defect, Pulmonary fibrosis	OMIM:619767
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Decreased DLCO, Urethral stenosis, Pulmonary fibrosis	OMIM:613990
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Increased body weight, Increased total bilirubin	ORPHA:890
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Dyspnea, Inability to walk, Reye syndrome-li...	ORPHA:26791
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Pustule, Splenomegaly, Pulmonary fi...	OMIM:612852
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa...	OMIM:300991
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardiac total anom...	OMIM:608978
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pust...	ORPHA:29207
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Short stature, R...	OMIM:613388
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colon...	OMIM:617638
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,...	ORPHA:90349
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis	OMIM:615996
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Death in infancy, Splenomegaly, Respiratory insuffic...	OMIM:607625
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic ...	OMIM:610188
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia	ORPHA:1745
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentrati...	OMIM:154230
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Osteolysis involvin...	OMIM:166300
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Recurrent fractures, Sh...	ORPHA:168569
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou...	ORPHA:99745
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Skin rash, Pustule, Tachypnea, Pulmonary fibrosis, Pu...	OMIM:615934
Say Syndrome	Short stature, Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne...	OMIM:301006
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati...	ORPHA:84085
Nocardiosis	Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e...	ORPHA:31204
Jeune Syndrome	Nephropathy, Renal insufficiency, Short stature, Nephronophthisis	ORPHA:474
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Displacement of...	ORPHA:2377
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora...	ORPHA:731
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged k...	OMIM:200995
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Gout	ORPHA:510
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Senior-Loken Syndrome 9	Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, ...	OMIM:616629
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Neonatal respiratory distress, Hypospadias, Unsteady gait, Feeding difficulties, Al...	OMIM:214100
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi...	ORPHA:1475
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Chronic pulmonary obstruction, Respira...	ORPHA:324
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting	OMIM:618314
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absenc...	OMIM:120330
Meckel Syndrome 14	Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:619879
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Renal agenesis, Short stature, Renal h...	OMIM:615583
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di...	OMIM:615767
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Test...	ORPHA:281090
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia	OMIM:617661
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R...	OMIM:620321
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial m...	OMIM:620233
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of...	ORPHA:662
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Incr...	OMIM:617872
Joubert Syndrome 20	Inability to walk, Respiratory insufficiency, Renal cyst	OMIM:614970
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:608644
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve...	ORPHA:66637
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Death in adolescence, Proximal tubulopathy, Death in childhood	OMIM:560000
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiome...	ORPHA:228308
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Femoral-Facial Syndrome	Inguinal hernia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycysti...	ORPHA:1988
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Joubert Syndrome 18	Joint laxity, Renal cyst, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation	OMIM:614815
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Retinal Dystrophy And Microvillus Inclusion Disease	Death in infancy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract...	OMIM:619446
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Inguinal hernia, Aganglionic megacolon, Hydronephrosis	OMIM:235760
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Rajab Interstitial Lung Disease With Brain Calcifications 2	Cough, Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Hepatosplenome...	OMIM:619013
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Lipod...	OMIM:619858
Neonatal Alloimmune Neutropenia	Miscarriage, Pneumonia	ORPHA:464370
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst	ORPHA:2668
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pulmonary fibrosis	OMIM:613989
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ...	ORPHA:324525
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyuria, Recurrent upper respiratory tract infections, Pleural effusion, Renal...	OMIM:618183
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria	OMIM:245900
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Type 1 Diabetes Mellitus	Polyuria	OMIM:222100
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Anorectal anomaly, Abnorm...	ORPHA:1834
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Neonatal...	OMIM:300219
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr...	OMIM:194080
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur...	OMIM:607594
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Sarcoidosis	Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Cough, Emphyse...	ORPHA:797
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Apnea, Aminoaciduria, Polycystic kidney dysplasia, Death in childhood	OMIM:214110
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Short stature, Elevated circulating C-reactive prot...	OMIM:191900
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Tachypnea, Hypercalciuria, Amin...	OMIM:239200
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Apparent Mineralocorticoid Excess	Renal insufficiency, Left ventricular hypertrophy, Short stature, Abnormal urine sodium concentra...	ORPHA:320
Rhyns Syndrome	Osteopenia, Renal insufficiency, Short stature, Chronic kidney disease, Osteoporosis, Nephronopht...	OMIM:602152
Bone Marrow Failure Syndrome 5	Pulmonary fibrosis	OMIM:618165
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome...	OMIM:223900
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly	OMIM:619126
Immunodeficiency 52	Death in infancy, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Death in childhood, Chronic ...	OMIM:617514
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus	OMIM:614816
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Mckusick-Kaufman Syndrome	Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr...	OMIM:236700
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P...	ORPHA:347
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Short stature, Osteomalacia, Hypocitraturia, Rickets, Nephr...	ORPHA:18
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection...	ORPHA:805
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Recurre...	ORPHA:397596
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, Respiratory...	OMIM:618278
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy...	ORPHA:85443
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in...	ORPHA:505248
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica...	OMIM:619386
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia	OMIM:266265
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma	OMIM:607271
Microphthalmia, Syndromic 9	Renal malrotation, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Renal hypoplasia,...	OMIM:601186
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ...	ORPHA:411543
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef...	ORPHA:542323
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Rickets, Renal tubular dysfunction, Hypokalemia,...	ORPHA:213
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Q Fever	Respiratory distress, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumon...	ORPHA:781
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr...	OMIM:614376
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency	OMIM:105120
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Postnatal growth r...	ORPHA:79303
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphys...	OMIM:614862
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Splenomegaly, Diarr...	ORPHA:436159
Hermansky-Pudlak Syndrome	Dyspnea, Renal insufficiency, Pulmonary fibrosis, Epistaxis	ORPHA:79430
Fusariosis	Fasciitis, Lung abscess, Sinusitis, Pneumonia, Abnormality of the kidney, Myositis, Maculopapular...	ORPHA:228119
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Bronchiectasis, Death in childhood, Recurrent otitis media, Recurrent l...	OMIM:619220
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay, Pancr...	ORPHA:289916
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
C Syndrome	Omphalocele, Hepatomegaly, Renal cortical cysts	OMIM:211750
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary inter...	ORPHA:97287
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contracture, Polycystic kidney dy...	ORPHA:261290
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezin...	OMIM:613807
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis	ORPHA:375
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Obesity, Nephro...	ORPHA:110
Orthostatic Hypotension 1	Nocturia, Increased blood urea nitrogen, Retrograde ejaculation, Hypomagnesemia, Joint hypermobility	OMIM:223360
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis,...	OMIM:130650
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Hypospadias, Feeding difficulties in infancy, Splenomegaly, Renal cyst, Hepatosplen...	OMIM:614866
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Abnormality of the pulmonary artery, ...	ORPHA:1926
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Periodontitis, Pulmonary fib...	OMIM:608233
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory...	OMIM:614748
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections	ORPHA:454
Ciliary Dyskinesia, Primary, 34	Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B...	OMIM:617091
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Short stature, Minimal change glomerulonephriti...	OMIM:618348
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Overlap Myositis	Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Arthritis, Rheumatoid arth...	ORPHA:206572
Cholera	Abnormality of renal excretion, Miscarriage, Tachypnea, Aspiration pneumonia, Acute kidney injury...	ORPHA:173
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis	OMIM:300400
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contracture, Postnatal growth retardat...	ORPHA:90321
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c...	OMIM:617730
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du...	ORPHA:39812
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation, Atrophic scars, Abnormality of the urinary system, Keloids, Enamel...	ORPHA:79405
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpholo...	ORPHA:77259
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Failure to thrive, Pancreatitis	ORPHA:79312
Nephronophthisis 19	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono...	OMIM:616217
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Short stature, Functional abnormality of the...	ORPHA:223
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Recurr...	OMIM:616100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Reduced renal corticomedu...	OMIM:618541
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt...	OMIM:617575
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Ataxia, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recur...	OMIM:619971
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag...	OMIM:216360
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Respiratory failure, 3-Methylglu...	ORPHA:445038
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr...	ORPHA:2590
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Bronchiolitis, E...	ORPHA:90348
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Limitation of joint mobility, Nephrotic syndrome,...	ORPHA:79327
Branchiootorenal Syndrome 1	Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic...	OMIM:113650
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Failure to thrive	OMIM:602579
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros...	OMIM:136680
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Feeding difficulties in infancy, Inguinal hernia, Renal cortical cysts	OMIM:618548
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Hyperparathyroidism, Transient Neonatal	Osteopenia, Recurrent fractures, Unilateral renal agenesis, Ovarian cyst, Subperiosteal bone form...	OMIM:618188
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:616546
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Ciliary Dyskinesia, Primary, 45	Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis	OMIM:618801
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media...	OMIM:245150
Gaucher Disease	Hepatomegaly, Death in infancy, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Abnorma...	ORPHA:355
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Hepa...	OMIM:615952
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Hydronephrosis, Akinesia	OMIM:607598
Phelan-Mcdermid Syndrome	Broad-based gait, Abnormality of the kidney, Unsteady gait, Feeding difficulties, Gastroesophagea...	OMIM:606232
Dyskeratosis Congenita, Autosomal Dominant 1	Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis	OMIM:127550
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Proportionate short stature, Seborrheic dermati...	ORPHA:488618
Late-Onset Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Atrophic scars, Abnormality of the urinary system, Keloids, Enamel...	ORPHA:79406
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Hydronephrosis	OMIM:619797
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis, Pulmonary ...	ORPHA:93672
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Spastic Paraplegia 84, Autosomal Recessive	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Tip-toe ga...	OMIM:619621
Trisomy 13	Abnormality of the ureter, Abnormal lung lobation, Multiple renal cysts, Displacement of the uret...	ORPHA:3378
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Emphysema	ORPHA:357074
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroidit...	ORPHA:139402
Gapo Syndrome	Growth delay, Hepatomegaly, Joint hypermobility, Tubulointerstitial fibrosis	OMIM:230740
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Cardiomegaly, Micropenis, Pulmonary hypoplasia, Pleural effusion, Hydronephrosis	OMIM:616897
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Neonatal death, Aspiration pneumonia, Left ventricular h...	OMIM:619167
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, A...	OMIM:619487
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Villous atrophy, Gastritis, Hepatoblastoma, Splenomegaly, Renal hy...	ORPHA:84064
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Congenital Myopathy 17	Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, U...	OMIM:618975
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
De Barsy Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Cryptorchidism, Athetosis, Pr...	ORPHA:2962
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema	OMIM:261740
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis	OMIM:615513
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre...	OMIM:619445
Seizures, Cortical Blindness, And Microcephaly Syndrome	Bronchiectasis	OMIM:616632
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ...	OMIM:203800
Cystic Echinococcosis	Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Asthma, Renal cyst, Membranous nephropath...	ORPHA:400
Tularemia	Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough...	ORPHA:3392
Melnick-Needles Syndrome	Vesicoureteral reflux, Recurrent respiratory infections, Hydronephrosis, Respiratory insufficiency	ORPHA:2484
Omenn Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Thyroiditis, Nephrotic syndrome, Erythroderma	ORPHA:39041
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo...	ORPHA:79404
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Postnatal gro...	OMIM:620366
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c...	ORPHA:911
Joubert Syndrome 39	Hypopnea, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmo...	OMIM:230800
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hydrocele testis, Overgrowth, Nephroblastoma, Ovarian serous cystadenoma, ...	ORPHA:276280
Meier-Gorlin Syndrome 6	Tracheobronchomalacia, Recurrent respiratory infections, Emphysema	OMIM:616835
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema, Micropenis	OMIM:224690
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Diarrhea, Stage ...	OMIM:249100
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm...	ORPHA:552
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Tachypnea, Abnormal pulmonary interstitial morphology, Respir...	OMIM:613658
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis	OMIM:614069
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Hydronephrosis	OMIM:618950
6P22 Microdeletion Syndrome	Hydronephrosis, Hernia	ORPHA:251046
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Immune-Mediated Necrotizing Myopathy	Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology	ORPHA:206569
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Nephronophthisis	OMIM:615630
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis,...	OMIM:208085
Acrorenal-Mandibular Syndrome	Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst...	OMIM:200980
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl...	OMIM:209950
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans, Eczema	OMIM:617241
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiomegaly, Sp...	OMIM:252500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Lymphocytic i...	OMIM:618495
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,...	ORPHA:183675
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Joint hyperflexibility, Intrauterine g...	ORPHA:2115
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmonary hypoplasia...	ORPHA:2437
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Tarsal synostosis, Short stature, Cryptorchidism, Renal hypoplasia	ORPHA:1307
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Asthma, Abnormal lun...	ORPHA:79328
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Hepatomegaly, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Myh9-Related Disease	Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis	ORPHA:182050
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C...	OMIM:244400
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia	ORPHA:85201
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Splenomegaly, Hepatitis, Uveiti...	ORPHA:3261
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Feeding difficulties, Chronic constipation, Gait disturbance, Chronic ...	OMIM:609757
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:263520
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis	OMIM:226990
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re...	ORPHA:331235
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections, Umbilical hernia, Hydronep...	OMIM:619218
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum...	OMIM:300635
Dyskeratosis Congenita, Autosomal Recessive 1	Pulmonary fibrosis	OMIM:224230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur...	OMIM:615398
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary...	OMIM:613193
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis	OMIM:619179
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Renal hypoplasia, Renal ...	ORPHA:85321
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Bacterial Toxic-Shock Syndrome	Respiratory distress, Recurrent urinary tract infections, Renal insufficiency, Fasciitis, Pneumon...	ORPHA:36234
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Death in infancy, Proteinuria, Pancreatic ...	OMIM:208500
Self-Improving Dystrophic Epidermolysis Bullosa	Atrophic scars, Abnormality of the urinary system, Enamel hypoplasia, Gastrointestinal inflammation	ORPHA:79411
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Retrograde ejacul...	ORPHA:230
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Visceral Myopathy 1	Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di...	OMIM:155310
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypt...	ORPHA:261265
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Visceral Myopathy 2	Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo...	ORPHA:70578
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:620197
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Splenomegaly, Esophageal...	ORPHA:53035
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Inflammatory abnormality of the skin, Cholangitis, Eczema, Pulmonary emboli...	ORPHA:3260
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusi...	OMIM:240500
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia	OMIM:618253
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epid...	OMIM:300755
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheom...	ORPHA:261494
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Renal cyst	ORPHA:2031
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst, Camptodactyly	OMIM:614175
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Epistaxis, Dyspnea, Chr...	ORPHA:340
Babesiosis	Splenomegaly, Hepatomegaly, Renal insufficiency, Limitation of joint mobility	ORPHA:108
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidism...	OMIM:242900
Gaucher Disease Type 3	Recurrent respiratory infections, Hepatomegaly, Proteinuria, Splenomegaly, Abnormal pulmonary int...	ORPHA:77261
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Polycystic ki...	OMIM:610199
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Polycyst...	ORPHA:2237
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Joint stiffness, Crypt...	ORPHA:3027
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Recurrent urinary tract infections, Elevated circulating C-reactive protein concent...	OMIM:615559
Alpha-Mannosidosis, Adult Form	Hepatosplenomegaly, Pneumonia, Oligosacchariduria	ORPHA:309288
Dyskeratosis Congenita, X-Linked	Hypospadias, Phimosis, Urethral stenosis, Horseshoe kidney, Restrictive ventilatory defect, Conju...	OMIM:305000
Epidermal Nevus Syndrome	Lipoma, Polycystic kidney dysplasia	ORPHA:35125
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Meckel Syndrome, Type 6	Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia, H...	OMIM:612284
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia	OMIM:617866
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short stature, Craniosynostosis, Cryptorchidism, Renal cyst, Horseshoe kidney, Intrauterine growt...	ORPHA:166035
Immunodeficiency 96	Recurrent otitis media, Recurrent lower respiratory tract infections, Multicystic kidney dysplasi...	OMIM:619774
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Hydronephrosis, Erythroderma	ORPHA:35173
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis	OMIM:620282
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Megacystis, Pyelonephrit...	OMIM:619351
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Post...	ORPHA:96179
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Obesity, Limited shoulder movement, Stage 1 ...	OMIM:618821
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Inability to walk, Renal hypoplasia, Gastroesophageal reflux, Constipa...	OMIM:618494
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury	ORPHA:330021
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Recurrent urinary tract infections, Recurrent skin infections...	OMIM:619802
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni...	ORPHA:169160
Relapsing Polychondritis	Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis, Hepatitis, Scleritis, Ab...	ORPHA:728
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly	OMIM:618982
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Splenomegaly, Galactosuria, Intractable diarrhea, Hep...	OMIM:222470
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp...	ORPHA:221
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
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Bron...	ORPHA:289390
Bardet-Biedl Syndrome 9	Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity	OMIM:615986
Teratoma, Pineal	Polyuria	OMIM:273120
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc...	ORPHA:508
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobr...	ORPHA:1018
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Short stature, Chronic kidney disease, Hyperammo...	ORPHA:1667
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Uroli...	OMIM:300661
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Proportionate tall st...	ORPHA:500095
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
22Q11.2 Deletion Syndrome	Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal refl...	ORPHA:567
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hematuri...	OMIM:158310
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:27
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Epistaxis	ORPHA:46488
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Chronic constipation, Ataxia, Hydronephrosis	OMIM:618060
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting	OMIM:612780
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Maculopapular exanthema, Skin rash, Crackles, Atelecta...	ORPHA:319213
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Polyuria	OMIM:125800
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema, Hypoxemia	ORPHA:284979
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Growth delay, Mild prot...	OMIM:619147
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hepatomegaly, Splenomegaly, He...	ORPHA:91138
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria	OMIM:304800
Infection-Related Hemolytic Uremic Syndrome	Anuria, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pancreatitis, Oliguria, Dec...	ORPHA:544482
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ...	OMIM:614878
Ogden Syndrome	Global glomerulosclerosis, Apnea, Eczema, Cardiomegaly, Pulmonary artery stenosis, Pulmonary arte...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizom...	OMIM:611209
Variant Abeta2M Amyloidosis	Pathologic fracture, Multiple bony cystic lesions, Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Nausea and vomiting, Recurrent skin infections, Urinary bladder inflammation,...	ORPHA:79403
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cardiomegaly	OMIM:601005
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory ...	ORPHA:31826
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Flexion contracture, Abnormal medullary pyra...	ORPHA:79243
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic...	OMIM:616433
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Abnormality of the kidney, Cholangitis, Abdominal pain, Hematem...	ORPHA:480520
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Skin...	ORPHA:330015
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonado...	OMIM:212065
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Splenomegaly, Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Aminoa...	OMIM:617913
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Osteoporosis, Nephrolit...	ORPHA:143
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria	OMIM:613677
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media	OMIM:618523
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosu...	OMIM:614700
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Short stature, Hypocalcemia	ORPHA:1563
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Crohn's disease	OMIM:619705
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Tall stature, Elevated circulating alpha-fetoprotein concentr...	ORPHA:116
3C Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Death in infancy, Hypospadias, Hydronephrosis	ORPHA:7
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Bronchiectasis, Osteomyelitis	OMIM:608184
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Hypospadias, Vesicoureteral reflux, Pulmonary artery ...	OMIM:301056
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ...	ORPHA:98905
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail...	ORPHA:3404
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growth retardation	ORPHA:73246
Meckel Syndrome, Type 2	Intrauterine growth retardation, Renal cyst	OMIM:603194
Melioidosis	Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit...	ORPHA:31202
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Helix Syndrome	Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria	OMIM:617671
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Renal agenesis, Cardiomegaly, Horses...	OMIM:306955
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi...	ORPHA:810
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Sinusitis, Bronchiectasis, Chronic bronchitis	OMIM:242860
Immunodeficiency 77	Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Flexion contracture, Hepatitis, Severe postnatal growth retar...	ORPHA:440713
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Short stature	OMIM:247410
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Recurrent pharyngitis, Myocarditis, Abnormal pulmonary inte...	ORPHA:2331
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiti...	ORPHA:37042
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Splenomegaly, Pulmonary lymphangiectasia, Micropenis, Hydronephrosis	OMIM:235255
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cylindru...	OMIM:233450
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Atrophic scars, Abnormal...	ORPHA:79409
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Cryptorchidism, Epiphysea...	ORPHA:912
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Pulmonary fibrosis	OMIM:612199
Brucellosis	Bronchitis, Knee osteoarthritis, Infectious encephalitis, Hepatomegaly, Epididymitis, Intrarenal ...	ORPHA:1304
Immunodeficiency 62	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic...	ORPHA:227990
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Joint hyperflexibility	ORPHA:2715
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Abnormal lung lobation...	OMIM:146510
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hemat...	OMIM:232240
Braddock-Carey Syndrome 1	Growth delay, Multicystic kidney dysplasia, Camptodactyly	OMIM:619980
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:601539
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ...	ORPHA:447
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Abdominal pain, Asthma, Hydronephrosis	ORPHA:449400
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Short stature, Erythroderma	ORPHA:313
Cardiac-Urogenital Syndrome	Tracheomalacia, Partial anomalous pulmonary venous return, Enlarged kidney, Pulmonary hypoplasia,...	OMIM:618280
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo...	OMIM:619752
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Bardet-Biedl Syndrome 12	Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis	OMIM:615989
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Joubert Syndrome 21	Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hyperechogen...	OMIM:615636
Zttk Syndrome	Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Pneumonia, Splenomegaly, Recurrent upper respirato...	OMIM:613179
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormali...	ORPHA:29073
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos...	ORPHA:416
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne...	OMIM:618282
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal potassium wasting	OMIM:263800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Perianal absc...	OMIM:612541
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Pneumothorax, Functional abnormality of the bladder, Nephrolithiasis, ...	ORPHA:2953
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney	OMIM:603467
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Pulmonary hypo...	OMIM:614080
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic...	ORPHA:227982
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Meckel Syndrome, Type 4	Intrauterine growth retardation, Renal cyst	OMIM:611134
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Pneumonia, Skin rash, Glomerular sclerosis, Nephropathy	ORPHA:247691
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Abdominal distention, Fl...	ORPHA:158684
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Craniosynostosis, Short stature, Renal cyst, Horseshoe kidney	OMIM:250410
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:601678
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Pulmonary hyp...	OMIM:249000
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Mult...	ORPHA:1318
Focal Dermal Hypoplasia	Omphalocele, Acute hepatic failure, Multicystic kidney dysplasia, Inguinal hernia, Abnormal denta...	ORPHA:2092
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Short stature, Tarsal synostosis, Renal hypopla...	ORPHA:2473
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Osteoporosis, Nephrolit...	ORPHA:99880
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the urinary system ph...	ORPHA:2552
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Distal Deletion 12Q	Late onset atopic dermatitis, Ectopic kidney, Esophageal atresia, Pyloric stenosis, Elbow flexion...	ORPHA:96149
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy	OMIM:618829
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Abdominal pain, Diarrhe...	ORPHA:486
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia, Growth delay, Myoglobinuria, Acute kidney ...	ORPHA:57
Alveolar Echinococcosis	Pulmonary cyst, Cholangitis, Pancreatic cysts, Dyspnea, Renal cyst, Cough, Abnormal bladder morph...	ORPHA:284
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala...	ORPHA:2614
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Pulmonary hypoplasia, Vesicoureteral reflux, Hydroneph...	ORPHA:2059
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis	OMIM:613001
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Recurrent pancreatitis,...	OMIM:606721
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Short statu...	OMIM:257300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut...	OMIM:618460
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s...	OMIM:251300
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication...	DECIPHER:81
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Pulmonary lymphangiectasia, Horseshoe kidney, Hydronephrosis, Vesicoureteral refl...	OMIM:235510
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Abnormal lung lobation, Horseshoe kidney, Multiple renal cy...	ORPHA:99776
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Hydronephrosis	OMIM:620141
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydr...	OMIM:619362
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia	OMIM:607361
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Recurrent urinary tract infections, Short stature, Cryptorchidism, Obesity, Enuresi...	OMIM:615873
Lassa Fever	Miscarriage, Dyspnea, Oliguria, Conjunctivitis, Cough	ORPHA:99824
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Premature ovarian insufficiency, Cachexia...	OMIM:610965
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Gastrointestinal inflammation, Atypical scarring of skin, Atrophic scars, Abnormality of the urin...	ORPHA:79410
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest...	ORPHA:747
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Proteinuria, Small for gestational age, Short stature, Minimal change glomerul...	ORPHA:1830
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ...	OMIM:102700
Ciliary Dyskinesia, Primary, 37	Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea	OMIM:617577
Prune Belly Syndrome	Xerostomia, Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Hydronephrosis, Camptodactyly	OMIM:179613
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Abnormal renal morphology, Pulmonary lymphangiectasia, Hepatosplenome...	ORPHA:1655
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Inflammat...	ORPHA:26790
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Recurrent respiratory infections, Renal dysplasia, Respiratory distress	OMIM:300968
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Eczema, Obesity, Joint hyperflexibility, Tracheomala...	ORPHA:1001
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Recurrent upper respiratory tract infections, Hydronephrosis	OMIM:612513
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Ataxia, Dysphagia, Hydronephrosis	OMIM:222300
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Fused cervical...	OMIM:617159
Spondyloenchondrodysplasia	Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven...	ORPHA:1855
Zaki Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Poor appetite, Unsteady gait, Hydronephrosis, Sp...	OMIM:619648
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor...	OMIM:614527
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneous pneumothorax	ORPHA:558
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Atelosteogenesis Type I	Rhizomelia, Abnormal ossification involving the femoral head and neck, Neonatal short-trunk short...	ORPHA:1190
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiecta...	OMIM:615207
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Delayed tarsal ossificatio...	OMIM:140000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral ca...	OMIM:150550
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney,...	ORPHA:500150
Bloom Syndrome	Bronchitis, Poor appetite, Adipose tissue loss, Uveitis, Gastroesophageal reflux, Otitis media, S...	ORPHA:125
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
9Q21.13 Microdeletion Syndrome	Gastrointestinal dysmotility, Hydronephrosis, Difficulty walking	ORPHA:531151
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Hepat...	ORPHA:2072
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Increased circu...	OMIM:614034
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia	ORPHA:204
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent oti...	OMIM:251260
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Floating-Harbor Syndrome	Broad-based gait, Hypospadias, Renal agenesis, Celiac disease, Dilatation of the renal pelvis, St...	ORPHA:2044
Meningococcal Meningitis	Renal insufficiency, Stiff neck, Skin rash, Elevated circulating C-reactive protein concentration...	ORPHA:33475
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Respiratory insufficiency, Renal cyst, Stillbirth, Pulmonary hypoplasia	OMIM:616300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Thyr...	OMIM:606367
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R...	OMIM:243700
Humeroradial Synostosis	Renal insufficiency, Humeroradial synostosis	OMIM:236400
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation	ORPHA:3301
Raine Syndrome	Death in infancy, Hydroureter, Pulmonary hypoplasia, Neonatal death, Hydronephrosis	OMIM:259775
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Hypospadias, Short stature, Cryptorchidism, Osteoporosis, Renal cyst, F...	OMIM:102500
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis	OMIM:619652
Genitopalatocardiac Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Intrauterine growth retardation	ORPHA:2075
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd...	ORPHA:1297
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Joubert Syndrome 37	Hepatomegaly, Micropenis, Hydronephrosis	OMIM:619185
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro...	OMIM:268315
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Pneumothorax, Premature osteoarthritis	OMIM:154700
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of...	ORPHA:261349
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroi...	ORPHA:83471
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Inguinal hernia, Renal hypoplasia, Hydronephrosis	OMIM:613735
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Splenomegaly, Hepatiti...	ORPHA:549
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Infectious encephalitis	ORPHA:83317
Cat Eye Syndrome	Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Horseshoe kidney, Total a...	OMIM:115470
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Dysphagia, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough	ORPHA:216866
Good Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i...	ORPHA:169105
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydronephrosis	OMIM:618265
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bro...	OMIM:614868
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Partial anomalous pulmonary venous return, Renal cyst	OMIM:617478
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Small intestinal dysmotility, Dysphagia, Feeding di...	OMIM:619482
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia, Pulmonary hypoplasia	OMIM:271520
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Stillbirth, Pulmonary hypoplasia, Unilateral renal agenesis	OMIM:308050
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneo...	ORPHA:276
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Multiple renal cyst...	OMIM:618733
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Renal insufficiency	ORPHA:2165
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur...	ORPHA:70
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Hydroureter, Hypospadias, Pulmonary artery stenosis, Partial anoma...	OMIM:265380
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Obesity, Growth delay, Vesicoureteral r...	ORPHA:96147
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Inability to walk, Hydronephrosis, Feeding difficulties	ORPHA:488613
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ob...	ORPHA:369837
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrom...	OMIM:161200
Chops Syndrome	Tracheomalacia, Splenomegaly, Anomalous pulmonary venous return, Horseshoe kidney, Aspiration pne...	OMIM:616368
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Joubert Syndrome 14	Growth delay, Renal cyst	OMIM:614424
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Melnick-Needles Syndrome	Recurrent respiratory infections, Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonar...	OMIM:309350
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Splenomegaly, Renal hypoplasia, Respiratory insufficiency, Pulmonary h...	OMIM:269860
Kury-Isidor Syndrome	Recurrent otitis media, Hydronephrosis, Feeding difficulties	OMIM:619762
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Umbilical hernia, Hydronephrosis	OMIM:619217
Viss Syndrome	Chronic gastritis, Gastroesophageal reflux, Emphysema, Chronic diarrhea, Umbilical hernia, Inguin...	OMIM:619472
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Abnormality of the g...	ORPHA:2241
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Intestinal malrotation, Feeding difficulties, Gastroesophageal ref...	ORPHA:457193
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Short stature, Osteoporosis, Ivory epiphyses of the phalanges ...	OMIM:226980
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Cough, Chronic o...	ORPHA:2314
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,...	ORPHA:391641
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Obesity, Craniosynostosis	ORPHA:261197
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Cryptorchidism, Congenital megaureter, Hyd...	ORPHA:261344
Listeriosis	Respiratory distress, Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Pustule, Myocarditis, ...	ORPHA:533
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Recurrent pneumonia, Colitis, Bronchiectasis	OMIM:301220
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Failure to thrive, Hepatomegaly, Short stature, Cholangitis, Cr...	OMIM:266920
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Castleman Disease	Myelofibrosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight...	ORPHA:160
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera...	ORPHA:464306
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Tarp Syndrome	Hydronephrosis, Apnea, Pulmonary hypoplasia, Horseshoe kidney	ORPHA:2886
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypopla...	ORPHA:2538
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Hepatic failure, Microcolon	OMIM:619431
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Short stature, Cryptorchidism, Abnormal rena...	OMIM:122470
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Pulmonary arterial hypertension,...	ORPHA:464738
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Feeding difficulties, Hepatosplenomegaly, Esophagitis, Hepatic fail...	ORPHA:541423
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hepatomegaly, Pneumonia, Chronic otitis media	ORPHA:169090
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst	OMIM:615560
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi...	OMIM:300707
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Flexion contracture, Feeding difficulties, Respiratory failure, Cam...	ORPHA:254528
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Decreased female libido, Hypercalcemia, Renal salt wasting, De...	ORPHA:95409
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Hydronephrosis	OMIM:620327
Boutonneuse Fever	Skin rash, Renal insufficiency, Maculopapular exanthema	ORPHA:83313
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Acute kid...	OMIM:618886
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Death in infancy, Splenomegaly, Neonatal asphyxia, Respiratory ...	OMIM:608779
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Growth delay, Renal hypoplasia, Absence of renal corticomedullary differe...	OMIM:619758
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Trisomy 20P	Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of ...	ORPHA:261318
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Interstitial pneumonitis	ORPHA:231154
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperur...	ORPHA:469
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:614846
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Stillbirth, Chylothorax, Pulmonary...	OMIM:229850
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Cardiomegaly, Dyspnea, Hepatitis, Chronic hepatitis, Recurrent otitis media, Pulmon...	OMIM:614921
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Recurrent fractures, Abnormality of the kidney...	ORPHA:1764
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Cryptorchidism, Progressive c...	ORPHA:2834
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Renal dysplasia, Renal cyst	OMIM:617260
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Pseudo-Torch Syndrome 1	Splenomegaly, Hepatomegaly, Renal insufficiency, Failure to thrive	OMIM:251290
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Renal hypoplasia, Renal cyst, Respiratory insufficiency, Stillbirth, Polycystic...	OMIM:210710
Esophageal Atresia	Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ...	ORPHA:1199
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Renal insufficiency, Recurrent skin infections, Glomerulonephriti...	ORPHA:79408
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Large for gestational age, Renal cyst, Overgrowth, Nephroblastoma, Bifid urete...	OMIM:617107
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Oliguria, Respiratory insufficiency	ORPHA:159
Cranioectodermal Dysplasia 4	Short stature, Sagittal craniosynostosis, Recurrent pneumonia, Stage 5 chronic kidney disease, Jo...	OMIM:614378
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete...	ORPHA:280633
Immunodeficiency 12	Skin rash, Cheilitis, Bronchiectasis, Death in adolescence, Recurrent aphthous stomatitis, Recurr...	OMIM:615468
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Hypospadias, Splenomegaly, Abnormal lung lobation, R...	OMIM:312870
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux,...	OMIM:618454
Cranioectodermal Dysplasia 3	Joint laxity, Short stature, Rhizomelia, Sagittal craniosynostosis, Stage 5 chronic kidney diseas...	OMIM:614099
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Pulmonary hypoplasia, Ureteral obstruction	ORPHA:90652
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga...	ORPHA:95455
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Splenomegaly, Renal cyst, Increased circulating very long-chain fatty a...	OMIM:261515
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete...	ORPHA:140952
X-Linked Dystonia-Parkinsonism	Bradykinesia, Shuffling gait, Difficulty walking, Aspiration pneumonia, Impaired oropharyngeal sw...	ORPHA:53351
Opitz Gbbb Syndrome	Enlarged ovaries, Hypospadias, Tracheomalacia, Stridor, Abnormality of the urinary system, Vesico...	ORPHA:2745
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Recurrent fractures, Short stature, Increased cir...	OMIM:222700
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis	OMIM:220210
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Weight loss, Testicular ter...	ORPHA:764
Distal Deletion 10Q	Failure to thrive, Short stature, Craniosynostosis, Postnatal growth retardation, Functional abno...	ORPHA:96148
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Otitis media	OMIM:602450
Intellectual Disability, Buenos-Aires Type	Umbilical hernia, Spastic gait, Hydronephrosis	ORPHA:3079
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Hypox...	ORPHA:199241
Coccidioidomycosis	Respiratory distress, Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of...	ORPHA:228123
Pseudo-Torch Syndrome 2	Hepatomegaly, Abnormal renal corticomedullary differentiation	OMIM:617397
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Pleural effusion, Abnormal bladder morphology, Hydronephrosis	ORPHA:453499
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Ab...	OMIM:619381
Cystic Fibrosis	Male infertility, Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, R...	OMIM:219700
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Delayed puberty, Left ventricular hyper...	OMIM:301500
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pulmonary artery hypopl...	ORPHA:991
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Trisomy 8P	Fetal pyelectasis, Recurrent upper respiratory tract infections, Abnormal lung lobation, Nephroca...	ORPHA:264450
Chronic Graft Versus Host Disease	Fasciitis, Phimosis, Urinary bladder inflammation, Dyspnea, Pneumothorax, Wheezing, Bronchiectasi...	ORPHA:99921
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegal...	OMIM:306400
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Chordee, Micropenis	OMIM:300519
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Apnea, Ataxia, Inguinal hernia, ...	ORPHA:1454
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D...	ORPHA:210122
Mesomelia-Synostoses Syndrome	Umbilical hernia, Hydronephrosis	ORPHA:2496
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly...	ORPHA:79282
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Bronchiectasis	OMIM:241600
Von Hippel-Lindau Syndrome	Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Multiple renal cysts...	OMIM:193300
Tarp Syndrome	Meckel diverticulum, Horseshoe kidney, Athetosis, Neonatal death, Hepatic failure, Hydronephrosis	OMIM:311900
Acute Monoblastic/Monocytic Leukemia	Oliguria, Exertional dyspnea	ORPHA:514
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Gastrointestinal dysmotility, Unsteady gait, Micropenis, Hydronephrosis, ...	OMIM:617798
Sepsis In Premature Infants	Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Dyspnea, Nasal flaring, Oliguria, Ent...	ORPHA:90051
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacol...	ORPHA:847
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria, Hyperalaninemia, Mitochondrial...	OMIM:618250
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis	OMIM:191100
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Lymphocytic interstitial pne...	ORPHA:2968
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit...	ORPHA:1546
Omenn Syndrome	Splenomegaly, Hepatomegaly, Pneumonia, Erythroderma	OMIM:603554
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Feeding difficulties in inf...	ORPHA:96169
Gaucher Disease, Type Ii	Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent asp...	OMIM:230900
Roberts Syndrome	Progressive flexion contractures, Long penis, Knee flexion contracture, Polycystic kidney dysplas...	ORPHA:3103
Geleophysic Dysplasia 3	Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia	OMIM:617809
Snakebite Envenomation	Hyponatremia, Acute kidney injury	ORPHA:449285
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Ate...	OMIM:188400
Pgm3-Cdg	Recurrent respiratory infections, Lactose intolerance, Membranoproliferative glomerulonephritis, ...	ORPHA:443811
Infantile Neuroaxonal Dystrophy	Ataxia, Unsteady gait, Flexion contracture, Apneic episodes in infancy, Gait disturbance, Constip...	ORPHA:35069
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis,...	ORPHA:2298
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retar...	ORPHA:699
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Tachypnea, Renal cyst, Polycystic ovaries, Cough, Pulmonary edema	ORPHA:137675
Femoral-Facial Syndrome	Inguinal hernia, Renal agenesis, Abnormal renal collecting system morphology, Gastroesophageal re...	OMIM:134780
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Orchitis, Pustule, Hem...	ORPHA:761
Hardikar Syndrome	Cholangitis, Vomiting, Vesicoureteral reflux, Bladder exstrophy, Hepatomegaly, Abdominal pain, Pu...	OMIM:301068
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Hereditary Hyperekplexia	Ataxia, Hiatus hernia, Gait disturbance, Gastroesophageal reflux, Hernia, Esophagitis, Umbilical ...	ORPHA:3197
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Abnormal blood ion concentration, Oliguria, Hypop...	ORPHA:31824
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Joint stiffness, Weight loss, Hematuria, Arthritis	ORPHA:397
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Aspiration...	ORPHA:79255
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelect...	ORPHA:365
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Nausea, Gastrointestinal obstruction, Epis...	ORPHA:100078
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Episodic tac...	ORPHA:26793
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Short stature, Postnatal gr...	ORPHA:1596
Cystic Fibrosis	Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one second, Asth...	ORPHA:586
Campomelic Dysplasia	Tracheomalacia, Tracheobronchomalacia, Hydronephrosis, Respiratory insufficiency	ORPHA:140
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Disproportionate sh...	OMIM:272460
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Microphallus, Aspiration pneumonia	OMIM:617053
Webb-Dattani Syndrome	Neurogenic bladder, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis	OMIM:615926
Knobloch Syndrome 2	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology	OMIM:618458
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Priapism	OMIM:603903
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr...	ORPHA:79276
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom...	OMIM:613254
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:2315
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop...	OMIM:615846
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penoscrotal hypospadias, Hepatomega...	OMIM:270400
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di...	ORPHA:79473
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Hajdu-Cheney Syndrome	Osteopenia, Hepatomegaly, Hypospadias, Recurrent fractures, Short stature, Splenomegaly, Osteopor...	ORPHA:955
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Penile hypospadias, Recurrent aspiration pneumonia	ORPHA:73230
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Ecze...	ORPHA:83617
Osteogenesis Imperfecta, Type Vii	Death in infancy, Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins	OMIM:610682
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory...	OMIM:600802
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Stevens-Johnson Syndrome	Dyspareunia, Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctiviti...	ORPHA:36426
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Rickets	OMIM:219900
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Death in inf...	ORPHA:1507
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Intrarenal abscess, Infectious enceph...	ORPHA:68
Aneurysm Of Sinus Of Valsalva	Dyspnea, Oliguria, Bacterial endocarditis, Cough	ORPHA:1054
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Stillbirth, Hydronephrosis, ...	OMIM:243605
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Cerebrocostomandibular Syndrome	Tracheomalacia, Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature	ORPHA:1393
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Ataxia, Flexion contracture, Malnutrition, Dysmetria, Gait at...	ORPHA:99027
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Short stature, Delayed puberty	OMIM:208060
Schinzel-Giedion Syndrome	Respiratory distress, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasi...	ORPHA:798
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Ataxia, Gait disturbance, Hydronephrosis, Gastrostomy tube feeding in infancy	ORPHA:247262
Cranioectodermal Dysplasia 2	Joint laxity, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Craniosynostosis, Rh...	OMIM:613610
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Increased connective tissue, Atelectasis, Inability to walk, Flexion c...	ORPHA:258
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F...	ORPHA:2137
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Pulmonary arterial hyperten...	ORPHA:314585
Takenouchi-Kosaki Syndrome	Inguinal hernia, Ataxia, Hypospadias, Unilateral renal agenesis, Camptodactyly, Hydronephrosis	OMIM:616737
Jacobsen Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Death in infancy, Eczema, Hydrone...	ORPHA:2308
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Intrauterine growth retardatio...	ORPHA:1556
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Small for gestational age, ...	OMIM:133540
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Spastic gait, Constipation, Dysphagia, Hydronephrosis	ORPHA:101000
Carpenter Syndrome 1	Omphalocele, Hydroureter, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Hydrone...	OMIM:201000
Gabriele-De Vries Syndrome	Waddling gait, Feeding difficulties, Distal arthrogryposis, Tip-toe gait, Ureteropelvic junction ...	OMIM:617557
Hydrolethalus Syndrome 1	Stillbirth, Abnormal lung lobation, Hydronephrosis, Hypospadias	OMIM:236680
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sul...	OMIM:253200
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypoplasia, Nep...	ORPHA:191
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Recurrent respiratory infections, Duplicated collecting system, Hydroureter, Ren...	OMIM:129900
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis	OMIM:610733
Gm1 Gangliosidosis	Recurrent respiratory infections, Inguinal hernia, Ataxia, Camptodactyly of finger, Splenomegaly,...	ORPHA:354
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Aganglionic megacolon, Renal hypoplasia, Horseshoe kidney, Ves...	OMIM:607323
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Cockayne Syndrome Type 3	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp...	ORPHA:90324
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Intrauterine growt...	OMIM:616975
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Flexion contracture, Stage 5 chronic kidney disease, Growth delay, Progressive cl...	OMIM:608612
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie...	ORPHA:93271
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Cheilitis, Eosinophil...	ORPHA:293173
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Frontometaphyseal Dysplasia 1	Hydroureter, Interphalangeal joint contracture of finger, Ankle flexion contracture, Camptodactyl...	OMIM:305620
Kikuchi-Fujimoto Disease	Hepatomegaly, Skin rash, Pustule, Splenomegaly, Myocarditis, Abnormal pulmonary interstitial morp...	ORPHA:50918
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Short stature,...	ORPHA:84
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Gastroesophageal reflux, Constipation, Umbilical hernia, Micropenis,...	OMIM:301040
Pelvis-Shoulder Dysplasia	Waddling gait, Camptodactyly of finger, Hydronephrosis	ORPHA:2839
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Ast...	ORPHA:353281
Chand Syndrome	Atelectasis, Hydroureter	ORPHA:1401
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Short stature, Craniofacial osteosclerosis, Joint contracture of th...	OMIM:300373
Behçet Disease	Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
7Q11.23 Microduplication Syndrome	Inguinal hernia, Hypospadias, Unilateral renal agenesis, Tracheomalacia, Congenital diaphragmatic...	ORPHA:96121
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Hip contracture, Proteinuria, Short stature, Cryptorchidism, S...	OMIM:216400
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Hypospadias, Esophagitis, Feeding difficulties	ORPHA:79350
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnorma...	ORPHA:818
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:568
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Horseshoe kidney, Ar...	ORPHA:3310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Pneumothorax, Recurrent skin infections, Hydronephrosis	OMIM:601776
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti...	ORPHA:101330
Thakker-Donnai Syndrome	Tracheoesophageal fistula, Hydronephrosis, Congenital diaphragmatic hernia, Rectovaginal fistula	ORPHA:1780
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Recurrent urinary tract infections, Psoriasiform dermatitis, Unila...	ORPHA:221139
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Hypospadias, Total anomalous pulmonary venous return, Unilateral renal agenesis	ORPHA:487796
Cerebrocostomandibular Syndrome	Calcaneal epiphyseal stippling, Ectopic kidney, Postnatal growth retardation, Elbow flexion contr...	OMIM:117650
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Pancreatitis	ORPHA:537
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona...	OMIM:616268
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Hepa...	ORPHA:581
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Tracheobronchomalacia, R...	OMIM:114290
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Pulmonary embolism, Aspiration pneumonia, Myoglobinuria, Acute...	ORPHA:94093
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary,...	OMIM:619321
Trisomy 10P	Small for gestational age, Abnormality of the kidney, Growth delay, Multiple renal cysts, Camptod...	ORPHA:171929
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Koolen-De Vries Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Eczema, Hydronephrosis	OMIM:610443
Cardiofaciocutaneous Syndrome 1	Feeding difficulties in infancy, Splenomegaly, Atopic dermatitis, Vomiting, Gastroesophageal refl...	OMIM:115150
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Feeding difficulties, Difficulty walking, Vesicoureteral reflux, Micropenis, Pel...	OMIM:618653
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Eczema, Trache...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Eczema, Trache...	ORPHA:363958
Hennekam-Beemer Syndrome	Pneumonia, Respiratory insufficiency	ORPHA:2135
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Erythroderma	OMIM:302960
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Recurrent upper respiratory tract infections, Funct...	ORPHA:391487
Cardiogenic Shock	Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Oliguria, Hypoxemia	ORPHA:97292
Liver Disease, Severe Congenital	Status asthmaticus, Hepatomegaly, Recurrent urinary tract infections, Chronic gastritis, Hypospad...	OMIM:619991
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synostosis, Pancreatic cys...	ORPHA:2750
Baller-Gerold Syndrome	Malabsorption, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux,...	ORPHA:1225
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Short stature, Osteolysis, Growth delay, Intrauterine growth retard...	ORPHA:1052
Oeis Complex	Duplicated collecting system, Omphalocele, Hydroureter, Renal agenesis, Intestinal malrotation, E...	OMIM:258040
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Primary Sclerosing Cholangitis	Osteopenia, Hepatomegaly, Renal insufficiency, Splenomegaly, Osteoporosis, Hepatitis, Uveitis, We...	ORPHA:171
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ...	OMIM:211900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis, Decreased liver function	OMIM:617093
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Hepatomegaly, Broad-based gait, Inguinal hernia, Pulmonary artery s...	OMIM:280000
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Ureteral triplication, Hydronephrosis	OMIM:104350
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidn...	OMIM:194050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Progressive pulmonary function ...	ORPHA:77293
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Miller-Dieker Lissencephaly Syndrome	Pelvic kidney, Recurrent aspiration pneumonia	OMIM:247200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Nephrolithiasis, Aspiration pneumonia, Vesicoure...	ORPHA:438213
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Inability to walk, Asthma, Feeding difficulties, Stridor, Dysphagia, Ureterop...	OMIM:616973
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ...	OMIM:601495
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis, Renal magnesium wasting, Chron...	OMIM:218330
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly...	ORPHA:904
Localized Scleroderma	Fasciitis, Abnormality of the kidney, Abnormality on pulmonary function testing, Flexion contract...	ORPHA:90289
Au-Kline Syndrome	Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Chronic kidney disease, Dilatation o...	OMIM:616580
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormali...	ORPHA:2273
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Respiratory insuffici...	ORPHA:536467
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis	OMIM:181270
C Syndrome	Multicystic kidney dysplasia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplas...	ORPHA:1308
Dubowitz Syndrome	Hypospadias, Eczema, Asthma, Respiratory insufficiency, Hydronephrosis	ORPHA:235
Eec Syndrome	Hypospadias, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Keratitis, Xerostomia, ...	ORPHA:1896
Mosaic Trisomy 8	Vesicoureteral reflux, Arthrogryposis multiplex congenita, Camptodactyly of finger, Hydronephrosis	ORPHA:96061
8P Inverted Duplication/Deletion Syndrome	Contractures of the large joints, Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Otitis media	ORPHA:309282
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Joint stiff...	ORPHA:1606
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Kabuki Syndrome 1	Crossed fused renal ectopia, Micropenis, Recurrent otitis media, Ureteropelvic junction obstructi...	OMIM:147920
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Small for gestational age, Short stature,...	ORPHA:97360
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong...	ORPHA:2322
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Nephrocalcinosis, Abnorm...	ORPHA:79500
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the upper u...	ORPHA:3380
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary...	ORPHA:2785
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Gastroesophageal reflux, Rectovaginal fistula, Recurrent otitis me...	OMIM:619426
Degcags Syndrome	Osteopenia, Bilateral renal hypoplasia, Hepatomegaly, Hypospadias, Cryptorchidism, Abnormal renal...	OMIM:619488
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema no...	ORPHA:707
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Inability to walk,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Inability to walk,...	ORPHA:352665
Waldenström Macroglobulinemia	Splenomegaly, Hepatomegaly, Renal insufficiency	ORPHA:33226
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Hypospadias, Aspiration pneumonia, Horseshoe kidney	ORPHA:1465
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn...	ORPHA:353277
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Micropenis, Hypospadias, Hydronephrosis, Respiratory insufficiency	ORPHA:163979
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Feeding difficulties	ORPHA:2995
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurren...	ORPHA:980
Simpson-Golabi-Behmel Syndrome	Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:373
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:272950
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short statur...	ORPHA:199
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Recurrent respiratory infections, Renal insufficiency, Hepatomegaly, Splenomegaly, As...	OMIM:619534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Eczema, Asthma, Recurrent pneumonia, Hydronephrosis, Recurrent bronchitis	OMIM:620330
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia	ORPHA:90790
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Cryptorchidi...	OMIM:620305
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Monosomy 22Q13.3	Nausea and vomiting, Recurrent skin infections, Feeding difficulties, Hydronephrosis, Gastroesoph...	ORPHA:48652
Cardiofaciocutaneous Syndrome	Feeding difficulties in infancy, Abnormality of the gastrointestinal tract, Hydronephrosis, Funct...	ORPHA:1340
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:250989
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Renal cell carcinoma, Multip...	ORPHA:892
Roberts-Sc Phocomelia Syndrome	Hypospadias, Ankle flexion contracture, Long penis, Elbow flexion contracture, Horseshoe kidney, ...	OMIM:268300
Genitopatellar Syndrome	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Pulmonary hypoplasia	OMIM:606170
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hip contracture, Hypercapnia, Ankle flexion contracture, Respir...	ORPHA:2020
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Glomerulopathy, Sinusitis, Recurrent intrapulmonary hemorrhage,...	ORPHA:906
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight	ORPHA:244242
Apert Syndrome	Acne, Esophageal atresia, Pyloric stenosis, Chronic otitis media, Hydronephrosis	OMIM:101200
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Hepatocellular ca...	ORPHA:186
Marburg Hemorrhagic Fever	Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ...	ORPHA:99826
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Diamond-Blackfan Anemia 7	Vesicoureteral reflux, Esophagitis, Recurrent otitis media, Horseshoe kidney	OMIM:612562
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorm...	ORPHA:709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Keratoconjunctivitis sicca, Hypospadias, Renal cyst	ORPHA:495875
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o...	ORPHA:2908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con...	OMIM:615287
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop...	ORPHA:881
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ureteropelvic junction obstruction, Foot joint contracture, Hydronephrosis	ORPHA:444072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Tracheomalacia, Asthma, Horseshoe kidney, Aspiration pneumonia, Vesicoureteral reflu...	ORPHA:444077
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Poor appetite, Feeding difficulties in infancy, Horseshoe kidney, Vomiting, Gastroes...	ORPHA:96182
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Inguinal hernia, Hydroureter, Hypospadias, Intestinal malrotati...	OMIM:135900
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hypospadias, Respiratory tract infection, Recurrent upper respiratory tract...	OMIM:180849
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Cousin Syndrome	Joint contracture of the hand, Wrist flexion contracture, Hydronephrosis, Camptodactyly	OMIM:260660
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Abnormality of the kidney, Inability to walk, Asthma, Constipation, Esophagitis, Dysph...	ORPHA:495818
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin...	OMIM:617718
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ataxia, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Flexion contra...	OMIM:301072
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung l...	ORPHA:2052
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Frontometaphyseal Dysplasia	Interphalangeal joint contracture of finger, Camptodactyly of finger, Ureteral obstruction, Ureth...	ORPHA:1826
Wiskott-Aldrich Syndrome	Eczema, Epistaxis, Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent...	OMIM:301000
Proteus Syndrome	Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Joint stiffness, Long p...	ORPHA:744
Tay-Sachs Disease	Inability to walk, Dysmetria, Hepatosplenomegaly, Gait disturbance, Aspiration pneumonia, Dysphag...	ORPHA:845
Robinow Syndrome, Autosomal Recessive 1	Inguinal hernia, Nephrolithiasis, Nephrocalcinosis, Umbilical hernia, Micropenis, Hydronephrosis,...	OMIM:268310
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,...	ORPHA:1901
Shwachman-Diamond Syndrome	Hepatomegaly, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis	ORPHA:811
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Short stature, Limited elbow moveme...	OMIM:218040
Occipital Horn Syndrome	Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticulum, Hydronephrosis	OMIM:304150
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Celiac disease, Glandular hypospadias, Atopic dermatitis, Nephrocal...	OMIM:136140
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Feeding difficulties, Athetosis, Hypogonadism, Vomiting, Esophagitis, Gastroesop...	ORPHA:79351
Igg4-Related Pachymeningitis	Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr...	ORPHA:449427
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion, Enthesitis	ORPHA:289176
Pitt-Hopkins Syndrome	Ataxia, Aganglionic megacolon, Hiatus hernia, Gait ataxia, Feeding difficulties, Gastroesophageal...	ORPHA:2896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Hepatomegaly, Ataxia, Inability to walk, Feeding difficulties, Athetosis, Esophagi...	OMIM:615356
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Urethral at...	ORPHA:564
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u...	ORPHA:913
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis	ORPHA:449432
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Respirat...	ORPHA:2636
Knobloch Syndrome 1	Duplicated collecting system, Ataxia, Pyloric stenosis, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Gabriele-De Vries Syndrome	Waddling gait, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Esophageal atresia, Di...	ORPHA:506358
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Bowel inco...	ORPHA:573278
Craniofacioskeletal Syndrome	Hypospadias, Hydronephrosis	OMIM:300712
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage...	OMIM:192350
Alobar Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Feeding difficulties, Vomiting,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Feeding difficulties, Vomiting,...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Feeding difficulties, Vomiting,...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Inability to walk, Flexion contracture, Dysphagia, Feeding difficulties, Vomiting,...	ORPHA:220386
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Respiratory distress, Cyst of the ductus choledochus, Recurrent upper and lower ...	ORPHA:480880
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Marshall-Smith Syndrome	Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Death in chil...	OMIM:602535
3Mc Syndrome 1	Omphalocele, Hydronephrosis	OMIM:257920
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Recurrent urinary tract infections, Hypospadias, Recurrent s...	ORPHA:3455
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Micropenis, Hydronephrosis	OMIM:269150
Mowat-Wilson Syndrome	Urinary incontinence, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Vesicoureteral...	ORPHA:2152
Arterial Tortuosity Syndrome	Respiratory distress, Inguinal hernia, Femoral hernia, Hiatus hernia, Dyspnea, Pulmonary artery s...	ORPHA:3342
Okamoto Syndrome	Omphalocele, Urinary incontinence, Intestinal malrotation, Splenomegaly, Unilateral renal hypopla...	ORPHA:2729
Charge Syndrome	Respiratory insufficiency, Horseshoe kidney, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:138
Exercise-Induced Malignant Hyperthermia	Crackles, Tachypnea, Oliguria, Hypocapnia, Acute kidney injury	ORPHA:466650
Niemann-Pick Disease Type C	Hepatomegaly, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepatosplenomega...	ORPHA:646
Agel Amyloidosis	Keratoconjunctivitis sicca, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Myocarditis, Increa...	ORPHA:466677
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Arthritis,...	ORPHA:2363
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret...	ORPHA:90340
Fontaine Progeroid Syndrome	Death in infancy, Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, ...	OMIM:612289
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvi...	ORPHA:261537
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r...	OMIM:619522
Otopalatodigital Syndrome, Type Ii	Hypospadias, Respiratory insufficiency, Respiratory failure, Stillbirth, Hydronephrosis	OMIM:304120
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Postnatal growth retardation, Cryptorchidism, Elbow flexion contract...	OMIM:113620
Charge Syndrome	Omphalocele, Renal agenesis, Esophageal atresia, Renal hypoplasia, Horseshoe kidney, Tracheoesoph...	OMIM:214800
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Chronic kidney disease, Septic arthritis, Recurrent aspiration pneumonia	ORPHA:642
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvi...	ORPHA:261552
Focal Dermal Hypoplasia	Omphalocele, Ureteral duplication, Inguinal hernia, Intestinal malrotation, Congenital diaphragma...	OMIM:305600
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Hyperproteinem...	ORPHA:509
Occipital Horn Syndrome	Recurrent urinary tract infections, Inguinal hernia, Femoral hernia, Scarring, Gastroparesis, Hia...	ORPHA:198
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Hypospadias, Pneumonia, Li...	OMIM:264090
Pmm2-Cdg	Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Proteinuria, Hypogonadotropi...	ORPHA:79318
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Otit...	ORPHA:64
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperur...	ORPHA:97214
Robinow Syndrome, Autosomal Dominant 1	Inguinal hernia, Umbilical hernia, Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Lafora Disease	Ataxia, Inability to walk, Gait disturbance, Hepatic failure, Recurrent aspiration pneumonia, Nas...	ORPHA:501
Acute Liver Failure	Acute kidney injury, Skin rash, Hepatitis, Hyperammonemia	ORPHA:90062
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Peptic ulcer, Diarrhea, Episodic abdominal pain, Zollinger-Elli...	ORPHA:276152
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Pulmonary hypoplasia, Vesicouretera...	OMIM:164210
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis, Subcutaneous lipoma	OMIM:131100
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Feeding difficulties in infancy, Renal hypoplasia, Umbilical h...	OMIM:261540
Pallister-Killian Syndrome	Hypospadias, Rhizomelia, Mesomelic/rhizomelic limb shortening, Cryptorchidism, Flexion contractur...	OMIM:601803
Johanson-Blizzard Syndrome	Colonic diverticula, Hepatomegaly, Hypospadias, Urethrovaginal fistula, Malabsorption, Splenomega...	OMIM:243800
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Micropenis, Hypospadias, Aspiration pneumonia	OMIM:216340

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 Wwtr1

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 Wwtr1.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Endothelial FAT1 inhibits angiogenesis by controlling YAP/TAZ protein degradation via E3 ligase MIB2.	Nature communications (April 2023)	Wwtr1^{tm1c(EUCOMM)Wtsi}	PMC10082778
Myofibroblast YAP/TAZ is dispensable for liver fibrosis in mice.	Journal of hepatology (March 2021)	Wwtr1^{tm1c(EUCOMM)Wtsi}	33675873
YAP/TAZ Are Required to Suppress Osteogenic Differentiation of Vascular Smooth Muscle Cells.	iScience (November 2020)	Wwtr1^{tm1c(EUCOMM)Wtsi}	PMC7726335
Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway.	Development (Cambridge, England) (November 2020)	Wwtr1^{tm1c(EUCOMM)Wtsi}	PMC7673359
YAP and TAZ protect against white adipocyte cell death during obesity.	Nature communications (October 2020)	Wwtr1^{tm1a(EUCOMM)Wtsi}	PMC7595161
YAP1/TAZ drives ependymoma-like tumour formation in mice.	Nature communications (May 2020)	Wwtr1^{tm1c(EUCOMM)Wtsi}	PMC7220953
YAP1 and TAZ Control Pancreatic Cancer Initiation in Mice by Direct Up-regulation of JAK-STAT3 Signaling.	Gastroenterology (May 2016)	Wwtr1^{tm1c(EUCOMM)Wtsi} Wwtr1^{tm1a(EUCOMM)Wtsi}	PMC5007286
Integrin signalling regulates YAP and TAZ to control skin homeostasis.	Development (Cambridge, England) (March 2016)	Wwtr1^{tm1c(EUCOMM)Wtsi}	PMC4874484

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Wwtr1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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