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Gene: Umod MGI:102674

Gene Summary

Name:

uromodulin

Synonyms:

Urehd1, uromucoid, Tamm-Horsfall glycoprotein, urehr4

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased hematocrit	Umod^urehr4	HOM	Early adult	4.06×10^-05
increased blood urea nitrogen level	Umod^urehr4	HOM	Early adult	8.76×10^-29
decreased hemoglobin content	Umod^urehr4	HOM	Early adult	2.63×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Umod 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 Umod (1 diseases)
Human diseases predicted to be associated with Umod (2388 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1		Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000

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

Disease	Matching phenotypes	Source
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Candidiasis, Familial, 4	Onychomycosis, Recurrent vulvovaginal candidiasis	OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
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
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Severe Primary Trimethylaminuria	Trimethylaminuria	ORPHA:468726
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Hyperuricemia, Hprt-Related	Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Acu...	ORPHA:411543
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri...	ORPHA:157215
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial m...	OMIM:602114
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ...	OMIM:616026
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:601678
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin...	ORPHA:3467
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
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
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Cryptorchidism, Hypercalciuria, Micropenis	OMIM:614732
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p...	ORPHA:284426
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational a...	OMIM:241200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo...	ORPHA:73224
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Lesch-Nyhan Syndrome	Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed...	OMIM:241530
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Hyperphenylalaninemia, Bh4-Deficient, D	Elevated urinary 7-biopterin level, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp...	OMIM:241500
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Hyperparathyroidism 4	Osteopenia, Nephrolithiasis, Hypercalcemia	OMIM:617343
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria	OMIM:145980
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Hyper-Beta-Alaninemia	Increased urinary taurine, Hyperbeta-alaninemia	OMIM:237400
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Gout	ORPHA:510
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Recurrent fr...	OMIM:239000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Carnosinemia	Carnosinuria	OMIM:212200
Nephronophthisis	Renal insufficiency	ORPHA:655
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint...	ORPHA:488627
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur...	OMIM:613404
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre...	OMIM:610600
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Galactosemia Ii	Galactosuria, Hypergalactosemia	OMIM:230200
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria	OMIM:606528
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia	ORPHA:178029
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re...	ORPHA:324575
Rhabdoid Tumor	Hematuria, Renal neoplasm, Hypercalcemia, Weight loss	ORPHA:69077
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Nephrolithiasis, Osteolysis, Abnormal adipose tissu...	ORPHA:93160
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercholes...	ORPHA:77296
Cystinosis	Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Hypokalemia, Aminoaciduria,...	ORPHA:213
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Low alkaline...	OMIM:241510
Atypical Hemolytic Uremic Syndrome	Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria	ORPHA:2134
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti...	OMIM:145001
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Small for gestational age, Cryptorchidism, Elbow flexion contractu...	OMIM:618440
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru...	ORPHA:54057
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Hyperuricemia, Uric acid nephrol...	OMIM:300661
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad...	ORPHA:223
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypertension, Hypocalciuria, I...	OMIM:612780
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis	OMIM:611590
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati...	OMIM:307800
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive	OMIM:125800
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive	OMIM:304800
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Gitelman Syndrome	Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ...	OMIM:263800
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage...	OMIM:617575
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive	OMIM:203400
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Fever, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglut...	OMIM:246450
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, H...	OMIM:232200
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Renal hypoplasia	OMIM:618681
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Phenylketonuria	Aminoaciduria	ORPHA:716
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Amyloidosis, Familial Visceral	Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy	OMIM:105200
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Homocarnosinosis	Carnosinuria	OMIM:236130
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Failure to thrive	OMIM:264350
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice...	ORPHA:411634
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
2P21 Microdeletion Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria	ORPHA:163693
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239500
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria...	ORPHA:99845
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin...	OMIM:264700
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Juvenile Paget Disease	Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec...	ORPHA:2801
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale...	OMIM:614736
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria	OMIM:238700
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u...	OMIM:617872
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria	ORPHA:251274
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Elevated circ...	OMIM:620366
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Renal insufficiency, Jaundice, Increased total bilirubin	ORPHA:890
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub...	OMIM:208085
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Osteoporosis, Nephrolit...	ORPHA:143
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u...	OMIM:252160
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin	OMIM:174050
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, H...	OMIM:232220
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight loss, Increased circulating cortisol l...	ORPHA:97289
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Weight loss	ORPHA:95626
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur...	ORPHA:289157
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Cystinosis, Nephropathic	Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag...	OMIM:219800
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g...	OMIM:232240
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur...	OMIM:232800
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Hypouricemia	ORPHA:760
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Osteoporosis, Nephrolit...	ORPHA:99880
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Infantile Myofibromatosis	Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis, Ch...	ORPHA:2591
Cystinuria	Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis	ORPHA:214
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys...	ORPHA:85447
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid	OMIM:206400
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti...	ORPHA:276580
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Ab...	OMIM:616733
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia	OMIM:615026
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria	OMIM:176200
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d...	ORPHA:79147
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Enamel hypoplasia, Hypocalcemia	ORPHA:557003
Essential Fructosuria	Abnormal urine carbohydrate level	ORPHA:2056
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ...	OMIM:277900
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a...	OMIM:617913
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin...	OMIM:121300
Epiphyseal Chondrodysplasia, Miura Type	Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline phosphatase of ...	OMIM:615923
Orthostatic Intolerance	Elevated urinary norepinephrine level	OMIM:604715
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis	OMIM:617105
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis	ORPHA:500533
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Joint hemorrhage, Hyperuricemia	ORPHA:35909
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:28
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis	OMIM:611087
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Renal sal...	ORPHA:95409
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot...	OMIM:607426
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Multiple Myeloma	Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad...	ORPHA:29073
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia	ORPHA:57
Bardet-Biedl Syndrome 9	Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH ad...	OMIM:612462
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior...	ORPHA:84081
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci...	OMIM:608709
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Polydipsia, Decr...	ORPHA:231580
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis	ORPHA:182050
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Macroorchidism, Osteomalacia, Monostotic fibr...	ORPHA:562
Heme Oxygenase 1 Deficiency	Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614034
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia	OMIM:610539
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:620138
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent ductus arteriosus, Hype...	ORPHA:369837
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hypercalcemia, Hyperkalemi...	ORPHA:199299
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypothermia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Failure to thrive, Hypertau...	OMIM:245400
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma, Weight loss	ORPHA:654
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilir...	OMIM:620010
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Truncal obesi...	OMIM:203800
Hypophosphatasia	Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis	ORPHA:436
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Low urinary cyclic AMP respo...	OMIM:103580
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R...	ORPHA:289176
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Polyphagia, N...	OMIM:606407
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Osteoporosis, Stage 5 chronic kidn...	ORPHA:79259
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Elevated circulating C-reactive protein concentration, Elevated circulating c...	ORPHA:91500
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po...	ORPHA:71526
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis	ORPHA:280062
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Elevated circul...	ORPHA:247691
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Glycogen Storage Disease Iv	Hepatic failure, Portal hypertension, Tubulointerstitial fibrosis	OMIM:232500
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Primary testicular failure, Hypercalcemia, Re...	ORPHA:85138
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocal...	ORPHA:36913
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Mult...	OMIM:263200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	3-Methylglutaconic aciduria	OMIM:614053
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency	OMIM:105120
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Porphyria Cutanea Tarda, Type I	Porphyrinuria	OMIM:176090
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Familial Expansile Osteolysis	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration	OMIM:174810
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, ...	ORPHA:95717
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Proximal tubulopathy, Polyuria	OMIM:560000
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:289916
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E...	OMIM:605850
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension	ORPHA:1192
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
3-Methylglutaconic Aciduria Type 1	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia	OMIM:617885
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension	ORPHA:820
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Hyperuricemia, L...	ORPHA:79083
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis	ORPHA:375
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Rotor Syndrome	Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria	ORPHA:3111
Glycogen Storage Disease Ixb	Hyperuricemia	OMIM:261750
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Squalene Synthase Deficiency	Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Bilatera...	OMIM:618156
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop...	ORPHA:398063
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atr...	ORPHA:369929
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Recurrent urinary tract infections, Renal insufficiency, Proteinur...	OMIM:619487
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ...	ORPHA:31824
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph...	OMIM:276700
Pheochromocytoma	Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,...	ORPHA:534
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Renal sal...	ORPHA:361
Orthostatic Hypotension 1	Hypomagnesemia, Joint hypermobility, Nocturia, Increased blood urea nitrogen	OMIM:223360
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Abnormal localization of kidney	ORPHA:446
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H...	OMIM:266510
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Neuroleptic Malignant Syndrome	Hyponatremia, Fever, Proteinuria, Elevated circulating creatine kinase concentration, Urinary inc...	ORPHA:94093
Beta-Ketothiolase Deficiency	Fever, Ketonuria, Hyperammonemia, Weight loss, Hyperuricemia	ORPHA:134
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc...	ORPHA:79303
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Potocki-Lupski Syndrome	Failure to thrive, Abnormal renal morphology, Small for gestational age, Hypocholesterolemia	OMIM:610883
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia...	ORPHA:94089
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Hydronephrosis, Increased bl...	OMIM:154230
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinem...	ORPHA:90041
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium	OMIM:611489
Galactosemia I	Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve...	OMIM:230400
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Leptin Deficiency Or Dysfunction	Micropenis, Polyphagia, Obesity	OMIM:614962
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati...	OMIM:191900
Burkitt Lymphoma	Hyperuricemia	ORPHA:543
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Menkes Disease	Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis, Hypothermia	OMIM:309400
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Renal insufficiency, Micropenis	OMIM:613861
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Coach Syndrome 2	Elevated hepatic transaminase, Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A...	ORPHA:188
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hypothermia, Elevated circulating acylcarnitine concentration, Oliguria, H...	ORPHA:159
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia	OMIM:173900
Glutaric Aciduria Iii	Glutaric aciduria, Failure to thrive, Hypertension	OMIM:231690
Leprechaunism	Reduced subcutaneous adipose tissue, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, H...	ORPHA:508
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Liddle Syndrome 1	Hypertension, Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Ketonuria, Hypothermia, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Hyperuricemia	ORPHA:20
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Webb-Dattani Syndrome	Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis	OMIM:615926
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia	OMIM:309541
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections	ORPHA:454
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Cryptorchidi...	ORPHA:90791
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi...	ORPHA:324525
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Familial Thyroid Dyshormonogenesis	Hypothermia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Abnormal circula...	ORPHA:95716
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Sarcosinemia	Hypersarcosinuria, Hypersarcosinemia	ORPHA:3129
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota...	OMIM:616299
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li...	ORPHA:79327
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction	OMIM:608320
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Proteinuria, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Rena...	OMIM:212065
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Cranioectodermal Dysplasia 1	Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney...	OMIM:218330
Familial Isolated Hypoparathyroidism	Nephropathy, Hypocalcemia	ORPHA:2238
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Elevated urinary catecholamine level, Hypercal...	ORPHA:653
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79101
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz...	ORPHA:447
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Oligozoos...	OMIM:300200
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia, 2-ethylhydracylic aciduria	OMIM:610006
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale...	ORPHA:168558
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,...	ORPHA:69076
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Membranoproliferative ...	OMIM:619644
Diffuse Alveolar Hemorrhage	Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre...	ORPHA:26793
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Meningococcal Meningitis	Fever, Renal insufficiency, Stiff neck, Hypothermia, Elevated circulating C-reactive protein conc...	ORPHA:33475
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com...	OMIM:557000
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale...	ORPHA:289548
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ...	OMIM:613159
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia, Increased circulating very long-chain fatty ac...	OMIM:614859
Isolated Polycystic Liver Disease	Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Pancreatic Cancer	Increased level of L-fucose in urine	OMIM:260350
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Increased urinary glycerol, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Propionic Acidemia	Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Fibrous Dysplasia Of Bone	Thin bony cortex, Hypercalcemia, Testicular neoplasm, Osteomalacia, Fibrous dysplasia of the bone...	ORPHA:249
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Failure to thrive, Hypocholesterolemia	OMIM:607765
Formiminoglutamic Aciduria	Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine concentration	ORPHA:51208
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj...	OMIM:617093
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Monosomy 13Q34	Fetal pyelectasis, Hypercalcemia, Obesity	ORPHA:96168
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Hypothermia	OMIM:614654
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Failure to thrive, Hypercalcemia	ORPHA:476126
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:617303
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Homocystinuria, Hyperhomocystinemia	OMIM:250940
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:616809
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:619658
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613502
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic ...	OMIM:241410
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Raine Syndrome	Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Arth...	OMIM:259775
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Familial Mediterranean Fever	Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:342
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Idiopathic Achalasia	Decreased prealbumin level, Dysphagia, Weight loss	ORPHA:930
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Mercury Poisoning	Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 chronic kidney disease, F...	ORPHA:1830
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Familial Tumoral Calcinosis	Nephrocalcinosis	ORPHA:53715
Cockayne Syndrome Type 1	Renal insufficiency, Foot joint contracture, Proteinuria, Scarring, Cryptorchidism, Increased blo...	ORPHA:90321
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Elevated circulating creatine kinase concentration, ...	OMIM:272300
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Cataract 47	Glycosuria	OMIM:612018
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive	OMIM:177735
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Hypertension, Acu...	OMIM:618886
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev...	OMIM:271980
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ...	ORPHA:36234
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Leptin Receptor Deficiency	Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia	OMIM:614963
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Large for gestational age, Delayed epiphyseal ossification, Umbilical hernia, Absent...	ORPHA:226313
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Nephroblastoma	ORPHA:52022
Pearson Syndrome	Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena...	ORPHA:699
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614870
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypothermia, Delayed proximal femoral epiphyseal ossification, Umbilical herni...	ORPHA:90674
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis	OMIM:618005
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania...	ORPHA:449285
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Temple Syndrome	Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia	ORPHA:254516
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:79312
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Proteinuria, Abnormal circulating fatty-acid concentration, Elevat...	ORPHA:263455
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arte...	OMIM:617053
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis	OMIM:612692
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec...	ORPHA:96180
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hypertension, Abdominal obesity, Increased body weight	OMIM:615954
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Sanjad-Sakati Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Cryptorchidism, Hy...	ORPHA:2323
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Failure to thrive	OMIM:602579
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Weight loss, Multiple lipomas, Increased circula...	ORPHA:913
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary...	ORPHA:79444
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst, Obesity	OMIM:615982
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Idiopathic Copper-Associated Cirrhosis	Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In...	ORPHA:209919
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Dysphagia	OMIM:618093
Stiff Skin Syndrome	Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis	ORPHA:2833
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po...	ORPHA:275761
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia	ORPHA:403
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco...	ORPHA:91138
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:27
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypothermia, Generalized aminoaciduria, Hyp...	OMIM:251880
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Reduced bone mineral density, Multip...	ORPHA:652
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti...	OMIM:236270
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Dysphagia, P...	ORPHA:220393
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:240500
Analbuminemia	Lipodystrophy, Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentra...	OMIM:616000
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Micropenis, Hypocholesterolemia	OMIM:618810
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus	ORPHA:2377
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis	OMIM:240300
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c...	ORPHA:85443
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b...	OMIM:612736
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero...	OMIM:242900
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic syndrome, Hypertension	ORPHA:110
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi...	ORPHA:231625
Wagro Syndrome	Proteinuria, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Nephrob...	OMIM:612469
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Beckwith-Wiedemann Syndrome	Omphalocele, Ureteral duplication, Inguinal hernia, Elevated circulating alpha-fetoprotein concen...	ORPHA:116
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Cystic Fibrosis	Hypercalciuria	OMIM:219700
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Gracile Bone Dysplasia	Decreased skull ossification, Micropenis, Failure to thrive, Hypocalcemia	OMIM:602361
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact...	OMIM:615547
Timothy Syndrome	Hypocalcemia, Hypothermia	OMIM:601005
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno...	ORPHA:79230
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic...	ORPHA:51608
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Impulsivity, Ectopic kidney, Abnormali...	ORPHA:3027
Holocarboxylase Synthetase Deficiency	Anorexia, Organic aciduria, Hyperammonemia, Weight loss	ORPHA:79242
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia, Aciduria	OMIM:617950
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma	OMIM:194072
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypoth...	ORPHA:79282
Mantle Cell Lymphoma	Anorexia, Weight loss	ORPHA:52416
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre...	ORPHA:97279
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t...	ORPHA:2769
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:614582
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm...	ORPHA:552
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Intellectual Disability-Strabismus Syndrome	Micropenis, Medullary nephrocalcinosis, Hypospadias	ORPHA:363528
Igg4-Related Aortitis	Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase concentration...	OMIM:615559
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t...	ORPHA:537
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati...	ORPHA:98895
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss	ORPHA:100083
Alg12-Cdg	Hyponatremia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Abnormal bone ossification, ...	ORPHA:79324
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney	OMIM:614846
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Congestive heart failure, Weight loss, Polydipsia, Hydronephrosis	ORPHA:35687
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Polyphagia, Obesity, Hyperbilirubinemia	OMIM:609734
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Jaundice, Hepatitis, E...	ORPHA:549
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Yao Syndrome	Pericarditis, Nephrolithiasis, Weight loss	OMIM:617321
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Restlessness, Dysuria, Urinary incont...	ORPHA:79276
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ...	ORPHA:79155
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidn...	OMIM:194050
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Alpha-Heavy Chain Disease	Fever, Hypocalcemia	ORPHA:100025
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weight, E...	OMIM:614886
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Shwachman-Diamond Syndrome 1	Nephrocalcinosis	OMIM:260400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ...	ORPHA:2089
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sm...	OMIM:301056
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Recombinant Chromosome 8 Syndrome	Hydronephrosis	OMIM:179613
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr...	OMIM:171400
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Unilateral ren...	OMIM:614576
Pseudoxanthoma Elasticum	Nephrocalcinosis	ORPHA:758
Adrenocortical Carcinoma	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:1501
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Polyphagia, Self-injurious behavior, Abnormal repetitive mann...	ORPHA:228402
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f...	ORPHA:79443
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Babesiosis	Renal insufficiency, Hepatic failure, Jaundice	ORPHA:108
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Hematuria, Hypertension, Second degree atrioventricular block, Hypoalb...	OMIM:617021
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hypercalcemia, Testicular neoplasm, Increased circulating corti...	ORPHA:276152
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Grade II vesicoureteral reflux, Weight loss, Reduced bone miner...	OMIM:619377
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Jaundice...	ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbu...	OMIM:608104
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaundice, Elevated ...	OMIM:214900
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,...	OMIM:233450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hype...	OMIM:618120
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic...	ORPHA:289504
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu...	OMIM:615160
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T...	OMIM:251000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Inguinal hernia, Hypothermia	OMIM:614498
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Panhypophysitis	Hyponatremia, Orthostatic hypotension, Hyposthenuria, Polydipsia	ORPHA:95513
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub...	ORPHA:904
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Renal steatosis, Hypoglycemia	OMIM:261650
Congenital Enterovirus Infection	Fever, Hypoalbuminemia, Hypothermia, Hyperammonemia	ORPHA:292
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia, Weight loss	ORPHA:514
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat...	OMIM:259700
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Hypothermia, Delayed proximal femoral epiphyseal ossif...	ORPHA:90673
Pulmonary Blastoma	Weight loss	ORPHA:64741
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma...	ORPHA:3463
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal stippli...	OMIM:101800
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Long penis, ...	ORPHA:769
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Abnormal medullary pyramid morphology	ORPHA:79243
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f...	ORPHA:83471
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Hemolytic Anemia, Congenital, X-Linked	Dark urine	OMIM:301015
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn...	ORPHA:53693
X-Linked Agammaglobulinemia	Fever, Osteomyelitis, Weight loss, Arthritis, Hypocalcemia, Cellulitis, Failure to thrive	ORPHA:47
Galactokinase Deficiency	Small for gestational age, Increased level of galactitol in plasma, Increased level of galactitol...	ORPHA:79237
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Spondyloenchondrodysplasia With Immune Dysregulation	Sclerosis of skull base, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Tubulointerstitial ...	OMIM:607944
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Hyperlipidemia, Abnormality of urine homeostasis, Reduced bone mineral density	ORPHA:1414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Cryptorchidism, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis	OMIM:235255
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:66628
Sarcoidosis	Renal insufficiency, Hypercalcemia, Scarring, Bone cyst, Nephrolithiasis, Hypercalciuria, Weight ...	ORPHA:797
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba...	OMIM:243700
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm...	OMIM:603471
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypospadias, Hypothermia, Flexion contracture, Methylmalonic aciduria, 3-...	ORPHA:17
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Anorexi...	ORPHA:3452
3-Methylglutaconic Aciduria Type 4	Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67048
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis	OMIM:220210
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Organic aciduria, Hypoglycemia	OMIM:614741
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Chronic kidney disease...	OMIM:208500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Long penis, Testicular adrenal rest tum...	ORPHA:90795
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Hypocalc...	ORPHA:2237
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ...	OMIM:613179
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:179494
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Joint stiffness, Cryptorchidism, Multi...	ORPHA:1166
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:26791
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Urinary bladder sphincter dysfunction, E...	ORPHA:52430
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ...	OMIM:619048
Trisomy X	Joint hyperflexibility, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Cryptorchidism, Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoprotein...	ORPHA:1655
Sarcoidosis, Susceptibility To, 1	Hypercalciuria	OMIM:181000
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar...	ORPHA:36412
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Canavan Disease	Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent...	OMIM:271900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa...	OMIM:210200
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Chronic kidney dis...	ORPHA:330015
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive	OMIM:610965
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac...	OMIM:618493
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase co...	ORPHA:521219
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Decreased serum zinc, Hydronephrosis, Joint laxity	ORPHA:541423
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Pulmonary arter...	OMIM:615474
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607594
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria	OMIM:619147
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis	ORPHA:2315
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, ...	ORPHA:2169
Kury-Isidor Syndrome	Hydronephrosis	OMIM:619762
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia	OMIM:618775
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Trisomy 13	Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis	ORPHA:3378
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Multiple glomerular cysts, Hypothermia, Low plasma citrulline, Lacticaciduria, Hyperalanin...	ORPHA:255210
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypothermia	OMIM:616501
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction	OMIM:208060
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:199296
Cirrhosis, Familial	Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension, Incr...	OMIM:215600
Serotonin Syndrome	Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Acute kidney injury	ORPHA:43116
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc...	ORPHA:731
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas...	OMIM:231100
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Pyomyositis	Renal insufficiency, Sudden cardiac death, Weight loss	ORPHA:764
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Micropenis, Agitation, Tachycardia	OMIM:613870
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal stippling, Stippled calcific...	OMIM:302960
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Hypothermia	ORPHA:168593
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Acute Promyelocytic Leukemia	Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Hematuria, Addictive alcohol use	ORPHA:520
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary...	OMIM:618885
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Alagille Syndrome 1	Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Multiple small...	OMIM:118450
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri...	OMIM:212138
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, M...	OMIM:607143
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Atypical scarri...	ORPHA:95455
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive	OMIM:614739
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Gapo Syndrome	Umbilical hernia, Joint hypermobility, Tubulointerstitial fibrosis	OMIM:230740
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem...	OMIM:615751
Lassa Fever	Shock, Oliguria, Dysphagia	ORPHA:99824
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Transketolase Deficiency	Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Elevated circulating ri...	ORPHA:488618
Cystic Echinococcosis	Abnormality of the testis size, Bone cyst, Renal cyst, Weight loss, Membranous nephropathy, Ovari...	ORPHA:400
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Abnormal circulating lipid concentration, Osteoporosis, Hypothermia	ORPHA:488632
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Polydip...	ORPHA:525731
Primary Progressive Freezing Gait	Hypertension, Restless legs, Urinary incontinence, Dysphagia	ORPHA:75567
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina...	ORPHA:42
Hyperaldosteronism, Familial, Type I	Hypertension, Abnormality of the urinary system, Decreased circulating renin level	OMIM:103900
Osteogenesis Imperfecta	Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Recurr...	ORPHA:666
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Small for gestational age, Hypospadias, Fractured radius, Multiple prenatal fractures...	OMIM:616897
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, My...	ORPHA:732
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Fatal Familial Insomnia	Urinary retention, Dysphagia, Weight loss	OMIM:600072
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Majeed Syndrome	Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains	OMIM:619858
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Ele...	OMIM:214110
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Epiphyseal stippling, Aminoaciduria, Album...	OMIM:214100
Distal Triplication 15Q	Abnormality of the kidney, Craniosynostosis, Large for gestational age, Patent ductus arteriosus,...	ORPHA:314588
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash	ORPHA:83313
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency	OMIM:247410
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Failure to thrive	ORPHA:369
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decreased liver functi...	OMIM:614922
Genetic Transient Congenital Hypothyroidism	Umbilical hernia, Increased circulating thyroglobulin level, Hypothermia	ORPHA:226316
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Hypertension, Agitation, Truncal obesity	OMIM:610489
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Hyperkalemia, Perineal hypospadia...	OMIM:201810
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo...	ORPHA:276
Isolated Biliary Atresia	Elevated hepatic transaminase, Dark yellow urine, Conjugated hyperbilirubinemia, Jaundice, Elevat...	ORPHA:30391
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis, Nephrolithiasis, Obesity, Hypokalemia, Abdominal obesity	OMIM:219090
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Long penis, Hyperkalemia,...	ORPHA:90794
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation	OMIM:618541
Trisomy 8P	Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis	ORPHA:264450
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia	OMIM:244460
Tuberculosis	Weight loss	ORPHA:3389
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Abnormality of the kidney, Decreased serum iron, Overweight, Flexion contracture, Failure to thrive	ORPHA:391372
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve...	ORPHA:66637
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal renal tubular a...	ORPHA:2785
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur	ORPHA:1054
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Failure to thrive, Polyphagia	ORPHA:95427
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Weight loss, Hypocalcemia, Steatorrhea, Enamel hypoplasia, Failure to thrive	OMIM:212750
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ...	OMIM:608594
Occipital Horn Syndrome	Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con...	OMIM:304150
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
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
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methyl...	OMIM:612073
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis	OMIM:266150
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinemia	OMIM:210210
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi...	ORPHA:261265
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Septic arthritis, Acute kidney injury...	ORPHA:544482
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia, Obesity, Maternal diabetes	ORPHA:3157
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis	OMIM:619179
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Vipoma	Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level, Subcutaneous lipoma	ORPHA:97282
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Ppoma	Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97278
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:615198
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Recurrent urinary tract infections, Femoral hernia, Osteomalacia, Sc...	ORPHA:198
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin...	ORPHA:90068
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Low alkaline phosphatase	OMIM:618879
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis	ORPHA:83317
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cryptorchidism, Horseshoe kidney, Hypoalbuminemia, Camptodactyly, Vesicoureteral ...	OMIM:235510
Menkes Disease	Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Hypothermia, Osteoporosis...	ORPHA:565
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:329475
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Beta-Thalassemia Intermedia	Osteopenia, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fractures, Pr...	ORPHA:231222
Joubert Syndrome 18	Joint laxity, Camptodactyly, Renal cyst, Horseshoe kidney	OMIM:614815
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Somatostatinoma	Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma	ORPHA:97283
Meckel Syndrome 13	Flexion contracture, Polycystic kidney dysplasia	OMIM:617562
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Small for gestational age, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria...	OMIM:614052
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,...	ORPHA:667
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Weight ...	ORPHA:397
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis	ORPHA:75563
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis	OMIM:610733
Propionic Acidemia	Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Hyperammonemia, Hypergl...	OMIM:606054
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication	ORPHA:96169
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c...	OMIM:269700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp...	ORPHA:1018
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Takayasu Arteritis	Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hypertension, Cerebral ischemia, Pulmon...	ORPHA:3287
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
D-Glyceric Aciduria	Aminoaciduria, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol...	ORPHA:14
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Hyperglutamatemia, Hyperammonemia	OMIM:237310
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu...	ORPHA:98813
Chronic Hiccup	Abnormal eating behavior, Weight loss	ORPHA:396
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Sickle Cell Disease	Hematuria, Hypertension, Renal insufficiency	OMIM:603903
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Weight loss, R...	ORPHA:99885
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Joubert Syndrome 20	Renal cyst	OMIM:614970
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ol...	ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis	OMIM:611209
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Arthrogryposis Multiplex Congenita 5	Medullary nephrocalcinosis	OMIM:618947
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Arthritis	OMIM:602390
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur...	OMIM:147060
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ...	OMIM:255120
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri...	ORPHA:160
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decre...	ORPHA:231632
Renal Tubular Acidosis, Proximal	Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Melas	Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne...	ORPHA:550
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:619662
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Hereditary Late-Onset Parkinson Disease	Impulsivity, Spastic/hyperactive bladder, Weight loss, Agitation, Dysphagia, Orthostatic hypotens...	ORPHA:411602
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope...	ORPHA:261494
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ...	OMIM:207900
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:613313
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperin...	OMIM:262190
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal...	ORPHA:1764
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti...	OMIM:277410
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233710
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dyspl...	ORPHA:96179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ...	ORPHA:324
Leigh Syndrome	Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunct...	ORPHA:506
Apparent Mineralocorticoid Excess	Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re...	OMIM:218030
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ...	OMIM:619484
Marburg Hemorrhagic Fever	Fever, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, ...	ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iie	Hydronephrosis, Neurogenic bladder, Failure to thrive, Elevated circulating creatine kinase conce...	OMIM:608779
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Elevated hepatic iron concentration	OMIM:614946
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypospadias, Increased circulating corticosterone level, Bi...	ORPHA:90793
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Doors Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl...	ORPHA:79500
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Hepatitis, Portal hypertension, Abnormal renal tubule morphology	ORPHA:440713
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Pseudo-Torch Syndrome 2	Abnormal renal corticomedullary differentiation	OMIM:617397
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney	ORPHA:1225
Grfoma	Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97261
Alagille Syndrome	Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndro...	ORPHA:52
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Fever, Hypothermia, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis	ORPHA:293987
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Dysphagia, Weight loss	ORPHA:2198
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Glucagonoma	Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma	ORPHA:97280
Caroli Disease	Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundi...	ORPHA:53035
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Multiple lipomas, Renal cyst	OMIM:135150
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Flexion contracture, Hyperammone...	ORPHA:1194
Trisomy 20P	Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism,...	ORPHA:261318
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypotension, Acute kidne...	ORPHA:244242
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypo...	ORPHA:79644
Familial Cervical Artery Dissection	Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ...	ORPHA:36382
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ...	OMIM:614080
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Increased circulating thyroglobulin level, Sagittal craniosynostosis, Hiatus hernia, ...	OMIM:610199
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Joint laxity, Hypospadias, Abno...	ORPHA:821
Riboflavin Transporter Deficiency	Hypertension, Dysphagia, Cachexia, Aggressive behavior	ORPHA:97229
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Macroorchidism, Failure to thrive	ORPHA:90790
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Recurrent urinary tract infections, Small for gestatio...	OMIM:613658
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Increased body weight, Hyperte...	ORPHA:189427
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Renal agenesis, Renal hypoplasia, Rena...	OMIM:615583
Argininemia	Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia	OMIM:207800
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O...	ORPHA:319213
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali...	OMIM:616828
Fragile X-Associated Tremor/Ataxia Syndrome	Dysphagia, Pollakisuria, Hypertension, Compulsive behaviors, Hypotension, Urinary bladder sphinct...	ORPHA:93256
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias...	ORPHA:2473
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Proteinuria, Pneumonia, Skin rash, Abnormal circulating...	ORPHA:2298
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Renal tubular dysfunction, Failure to thrive, Elevated hemoglobin A1c, Glycosuria	OMIM:616539
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Hypothermia, Flexion contracture, Urinary urgency, Urinary re...	ORPHA:99027
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia	ORPHA:85321
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney	OMIM:115470
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Hypothermia	OMIM:608800
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hypospadias, Cryptorchidism, Patent ductus arteriosus, H...	ORPHA:163979
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon...	ORPHA:48435
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive	OMIM:615453
Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hydronephrosis	OMIM:300712
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia	OMIM:236500
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233690
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Renal insufficiency, Decreased liver function, Jaundice	OMIM:251290
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:235555
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Scarring alopecia of scalp, Flexion contracture, Neonatal epiphyse...	ORPHA:35173
Zttk Syndrome	Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive	OMIM:617140
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney	ORPHA:2953
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:122860
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Multiple renal cyst...	OMIM:618733
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne...	ORPHA:2552
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Hydronephrosis	OMIM:616449
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:7
Carpenter Syndrome 1	Omphalocele, Hydroureter, Sagittal craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Ob...	OMIM:201000
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El...	ORPHA:90291
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis	OMIM:606069
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c...	OMIM:278000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp...	ORPHA:79086
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:601495
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss	ORPHA:2126
Overlap Myositis	Abnormality of the kidney, Elevated circulating creatine kinase concentration, Raynaud phenomenon...	ORPHA:206572
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypothermia, Overweight, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Abno...	ORPHA:226307
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Joint hyperflexibility, Mucopolysacchariduria, Hypocalcemia, Abnor...	ORPHA:175
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,...	ORPHA:900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi...	OMIM:300707
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Lipodystrophy, Familial Partial, Type 6	Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, Abdominal obesi...	OMIM:615980
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis	OMIM:617798
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,...	ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent...	ORPHA:183675
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Acute Interstitial Pneumonia	Fever, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein con...	ORPHA:79126
Igg4-Related Pachymeningitis	Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr...	ORPHA:449427
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal ...	OMIM:619127
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia...	OMIM:201750
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Increased circulating NT-proBNP concentration, Restl...	ORPHA:466677
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Elevated circulating alkaline phosphatase conc...	OMIM:618580
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	OMIM:311900
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g...	OMIM:261680
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi...	OMIM:115310
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Trichohepatoenteric Syndrome 1	Hypospadias, Small for gestational age, Increased serum iron, Hypoalbuminemia, Galactosuria, Hype...	OMIM:222470
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron...	OMIM:136140
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp...	ORPHA:100078
Caroli Syndrome	Elevated hepatic transaminase, Abnormality of the kidney, Portal hypertension, Cholangitis, Conju...	ORPHA:480520
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar...	ORPHA:36426
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Lacticaciduria, Tubulointerstitial ...	OMIM:124000
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis	OMIM:618460
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku...	ORPHA:93325
Frontometaphyseal Dysplasia 1	Hydroureter, Interphalangeal joint contracture of finger, Ankle flexion contracture, Camptodactyl...	OMIM:305620
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis, Elevated circulating creatine kinase concentration	OMIM:614921
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Dysphagia, Weight loss	ORPHA:50251
Cutis Laxa, Autosomal Recessive, Type Iic	Nephrocalcinosis, Micropenis	OMIM:617402
Shigellosis	Hyponatremia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abnorma...	ORPHA:810
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Sim1-Related Prader-Willi-Like Syndrome	Obesity, Abdominal obesity, Type II diabetes mellitus, Abnormal temper tantrums, Skin-picking, Mi...	ORPHA:398079
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:250989
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration	OMIM:614749
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Flexion cont...	OMIM:308050
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mell...	ORPHA:398069
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis	OMIM:601186
Alexander Disease	Osteopenia, Failure to thrive, Hypothermia	ORPHA:58
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615422
Cog4-Cdg	Elevated hepatic transaminase, Hypercholesterolemia, Elevated circulating alkaline phosphatase co...	ORPHA:263501
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Spondyloenchondrodysplasia	Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension	ORPHA:1855
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Decreased serum iron, Hypothermia, Osteoporosis, Vesicoureteral reflux,...	ORPHA:438213
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:486
Dubowitz Syndrome	Cryptorchidism, Inguinal hernia, Hypospadias, Hypocholesterolemia	OMIM:223370
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Increased circulating ferritin concentration, Elevated transferrin saturation, O...	ORPHA:465508
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Weight loss	OMIM:188580
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:605479
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia	OMIM:615750
Femoral-Facial Syndrome	Inguinal hernia, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of k...	ORPHA:1988
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte...	OMIM:208000
Mpdu1-Cdg	Elevated circulating creatine kinase concentration, Renal cortical cysts	ORPHA:79323
Infant Botulism	Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia	ORPHA:178478
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Polycystic kidney dysplasia, D...	OMIM:263210
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis	ORPHA:99776
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Nephrogenic rest, Absent in utero ossification o...	OMIM:608022
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria	OMIM:617253
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Tuberous Sclerosis Complex	Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ...	ORPHA:805
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Reduced haptoglobin level	OMIM:105600
Takenouchi-Kosaki Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis	ORPHA:314585
Liver Disease, Severe Congenital	Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Joint laxity, Hyp...	OMIM:619991
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis	ORPHA:847
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin...	OMIM:248600
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst, Camptodactyly	OMIM:614175
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Horseshoe kidney, Hypocalcemia	ORPHA:2136
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:613812
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Cryptorchidism, Elevated c...	OMIM:614866
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Stromme Syndrome	Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Aredyld Syndrome	Abnormality of the ureter, Cachexia	ORPHA:1133
Isolated Complex I Deficiency	Increased serum pyruvate, Failure to thrive, Proximal tubulopathy	ORPHA:2609
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level	OMIM:619356
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep...	OMIM:609049
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:54251
Alkaptonuria	Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction	ORPHA:56
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:247262
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Hypokalemia, Increased circulating cortiso...	ORPHA:199244
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Focal Dermal Hypoplasia	Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Abnormal dental enamel morphology, Co...	ORPHA:2092
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Hype...	OMIM:222700
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive	OMIM:616069
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst...	OMIM:220500
Koolen-De Vries Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis	OMIM:610443
Otopalatodigital Syndrome Type 2	Omphalocele, Carpal synostosis, Increased bone mineral density, Hypospadias, Camptodactyly of fin...	ORPHA:90652
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Incr...	ORPHA:139507
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ...	OMIM:259720
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia	ORPHA:293978
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Renal dysplasia	OMIM:300968
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, A...	ORPHA:3008
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Andersen-Tawil Syndrome	Renal tubular dysfunction, Renal hypoplasia	ORPHA:37553
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Luscan-Lumish Syndrome	Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Martin-Probst Syndrome	Renal insufficiency, Micropenis, Chordee, Proteinuria	OMIM:300519
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Polycystic kidney dysplasia	OMIM:608776
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Immunodeficiency 21	Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in...	OMIM:614172
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Hypoargi...	OMIM:237300
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Angelman Syndrome	Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr...	ORPHA:72
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Citrullinemia, Classic	Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma...	OMIM:215700
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr...	OMIM:156200
Refsum Disease	Renal insufficiency	ORPHA:773
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Oroticaciduria, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperg...	OMIM:620358
Hardikar Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary ...	OMIM:301068
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Portal hyperten...	ORPHA:1454
Familial Mediterranean Fever	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Stage...	OMIM:249100
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia	OMIM:218700
D-Bifunctional Protein Deficiency	Osteopenia, Failure to thrive, Renal cyst, Increased circulating very long-chain fatty acid conce...	OMIM:261515
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul...	ORPHA:892
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
Secondary Intestinal Lymphangiectasia	Fever, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decre...	ORPHA:90363
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ...	OMIM:606812
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious...	ORPHA:98793
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Craniosynostosis, Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Cachexia	ORPHA:157973
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Renal cyst	OMIM:614424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype...	ORPHA:280633
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Osteoporosis, Azoospermia, Increased serum iron, Te...	OMIM:235200
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hyperactivity, Hypertriglyceridemia	ORPHA:363400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious...	ORPHA:177904
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Micropenis, Renal agenesis, Hypospadias, Hydronephrosis	OMIM:301040
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Weight loss, Cardiomyopathy	ORPHA:79430
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Osteopenia, Renal insufficiency, Inguinal hernia, Failure to thrive, Conjugated hyper...	OMIM:619534
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Oroticacidur...	OMIM:311250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration, Renal cortical cysts	OMIM:618548
Zygomycosis	Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Eisenmenger Syndrome	Hyperuricemia, Renal insufficiency, Abnormal B-type natriuretic peptide concentration, Elevated c...	ORPHA:97214
Oculopharyngodistal Myopathy	Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss	ORPHA:98897
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious...	ORPHA:177901
Lymphoid Interstitial Pneumonia	Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, Enlarged kidney	ORPHA:79128
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritonitis, Endocarditis...	ORPHA:533
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:601847
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Elevated transferrin saturation, Azoospermia, Eleva...	OMIM:615234
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Failu...	OMIM:251110
Q Fever	Pericarditis, Anorexia, Myocarditis, Vasculitis, Weight loss, Hematuria, Abnormal left ventricula...	ORPHA:781
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Hypocholesterolemia	OMIM:244450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis	ORPHA:453499
Adnp Syndrome	Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Oral-pharyngeal dyspha...	ORPHA:404448
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal...	ORPHA:98754
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f...	OMIM:613489
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hypospadias, Hyperactivity, Unilateral renal agenesis, Congenital...	ORPHA:96121
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Joint hyperflexibility, Failure to thrive	ORPHA:2115
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased testicular size, Decreased ci...	OMIM:202010
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypokalemia, Increased circulating cortisol level, Oligozoospermia	ORPHA:786
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Prader-Willi Syndrome	Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi...	OMIM:176270
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ...	OMIM:251100
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ...	ORPHA:100080
Renpenning Syndrome	Hypospadias, Cachexia	ORPHA:3242
Glutaric Acidemia I	Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai...	OMIM:231670
Aceruloplasminemia	Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Immunodeficiency 12	Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf...	OMIM:615468
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Jaundice, Elevated circulating alkaline phosphatase con...	ORPHA:69665
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Eczema, Elevated circulating creatine kinase concentration	ORPHA:314389
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ...	ORPHA:556
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Jaundice, Hepatitis, Increased circulating ferritin concentration	OMIM:194380
Sifrim-Hitz-Weiss Syndrome	Vesicoureteral reflux, Renal insufficiency, Micropenis	OMIM:617159
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
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
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Colitis, Inflammation of the large intestine	OMIM:203300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464311
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr...	ORPHA:404
Interstitial Lung And Liver Disease	Aminoaciduria, Hyperammonemia	OMIM:615486
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:444072
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Portal hypertension, Stage 5 chronic kidney disease, Ureteral atresia, Polyc...	OMIM:208540
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Camptodactyly of f...	ORPHA:1826
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy	OMIM:618829
Lathosterolosis	Elevated hepatic transaminase, Intrahepatic cholestasis, Horseshoe kidney, Elevated circulating a...	OMIM:607330
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Recurrent viral infections	OMIM:618048
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease...	ORPHA:99901
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Enamel hypoplasia, Camptodactyly	OMIM:619980
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin, Elevated circulating creatine kinase concentration	OMIM:167320
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Hypothermia, Chronic kidney disease, Corneal scarring, Painless fractur...	ORPHA:642
22Q11.2 Deletion Syndrome	Inguinal hernia, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Patent ductus ar...	ORPHA:567
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Elevated circulating asp...	OMIM:619525
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration, Abnormal renal morphology	OMIM:239300
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity	ORPHA:25
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ...	ORPHA:100082
Isaacs Syndrome	Weight loss	ORPHA:84142
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ...	OMIM:606367
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Cousin Syndrome	Hydronephrosis	OMIM:260660
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Weight loss	OMIM:209950
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Obesity, Vesicoureteral reflux, Failure to thrive	ORPHA:96147
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I...	ORPHA:60025
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl...	OMIM:192350
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation	ORPHA:251028
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch...	ORPHA:679
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra...	OMIM:308230
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren...	ORPHA:331206
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	ORPHA:2886
Primary Sclerosing Cholangitis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Portal hypertension, P...	ORPHA:171
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux	ORPHA:140952
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464306
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Hypospadias, Cryptorchidism, Patent ductus arteriosus,...	OMIM:102500
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal...	OMIM:266920
Epidermal Nevus Syndrome	Lipoma, Osteopenia, Polycystic kidney dysplasia	ORPHA:35125
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease, Portal h...	OMIM:267010
Ménétrier Disease	Gastrointestinal hemorrhage, Anorexia, Weight loss, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Weight loss, Attention deficit hyperactivity disorder, Hypertrophic cardiom...	ORPHA:251071
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:251260
Felty Syndrome	Recurrent urinary tract infections, Pericarditis, Weight loss	ORPHA:47612
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Failure...	ORPHA:261197
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration	OMIM:606893
Kearns-Sayre Syndrome	Renal tubular acidosis, Renal Fanconi syndrome	OMIM:530000
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia, Dysphagia	ORPHA:300605
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H...	OMIM:253270
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Hydronephrosis, Urachus fistula	OMIM:612541
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Weight loss, Hematochezia, Hypoalbuminemia...	ORPHA:2070
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Distal Deletion 12Q	Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:96149
Campomelia, Cumming Type	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts	ORPHA:1318
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Palpitations, Facial t...	ORPHA:97287
Opitz Gbbb Syndrome	Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis	ORPHA:2745
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration, Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Ogden Syndrome	Global glomerulosclerosis, Eczema, Jaundice, Hyperbilirubinemia, Polycystic kidney dysplasia, Rec...	OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Meckel Syndrome, Type 2	Omphalocele, Renal cyst	OMIM:603194
3Mc Syndrome 1	Hydronephrosis	OMIM:257920
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Inguinal hernia, Femoral hernia, Unilateral renal agenesis,...	OMIM:188400
Behçet Disease	Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi...	ORPHA:117
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Patent ductus arteriosus, Renal hypoplasia, Polycysti...	ORPHA:84064
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype...	ORPHA:902
Apert Syndrome	Sagittal craniosynostosis, Craniosynostosis, Limited elbow movement, Cryptorchidism, Delayed epip...	OMIM:101200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechog...	ORPHA:397715
Isolated Osteopoikilosis	Addictive alcohol use, Abnormality of the kidney	ORPHA:166119
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Cachexia, Dysphagia	ORPHA:85278
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Osteopenia, Inguinal hernia, Joint laxity, Morgagni diaphrag...	OMIM:613177
Leptospirosis	Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Retinal hemo...	ORPHA:509
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hyperalaninemia, Dysphagia, Cachexia, Weight loss	ORPHA:298
Cardiofaciocutaneous Syndrome	Hydronephrosis	ORPHA:1340
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Failure to thrive, Hydronephrosis	OMIM:115150
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:306400
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Joint hyperflexibility, T...	ORPHA:1001
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration	OMIM:615716
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Mosaic Trisomy 1	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,...	ORPHA:1692
Von Hippel-Lindau Syndrome	Hypertension, Renal cell carcinoma, Multiple renal cysts	OMIM:193300
Leishmaniasis	Hypoalbuminemia, Anorexia, Weight loss	ORPHA:507
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev...	ORPHA:93672
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Huntington Disease-Like 2	Weight loss	OMIM:606438
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria, Failure to thrive, Hyperammonemia	OMIM:616457
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin, Increased urinary type 1 collagen N-terminal telope...	ORPHA:85188
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating ferritin concentration, Vasculitis, Weight loss, Hematochezia,...	OMIM:615846
Mulibrey Nanism	Cachexia	ORPHA:2576
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Inguinal hernia, Hypocalcemia	ORPHA:2306
Sneddon Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Hurler Syndrome	Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris	ORPHA:93473
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Hypertension, Self-injurious behavior, Abnormal temper tantru...	ORPHA:449291
Thymoma	Glomerulonephritis, Weight loss	ORPHA:99867
Velocardiofacial Syndrome	Umbilical hernia, Inguinal hernia, Hypocalcemia, Cryptorchidism	OMIM:192430
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circu...	ORPHA:567983
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Weight loss, Hypotension	ORPHA:98850
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase	OMIM:619985
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Omenn Syndrome	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:603554
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph...	OMIM:615873
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
X-Linked Acrogigantism	Increased body mass index, Abnormal oral glucose tolerance, Fasting hyperinsulinemia, Polyphagia	ORPHA:300373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Bilateral fetal pyelectasis, Seborrheic dermatitis, Elevated circul...	OMIM:300868
Melnick-Needles Syndrome	Ureteral stenosis, Hydronephrosis	OMIM:309350
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Jaundice, Elevated circulating alkaline phosphatase c...	OMIM:600803
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication	ORPHA:457212
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Alg9-Cdg	Omphalocele, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Hepatic cysts, Abnorm...	ORPHA:79328
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Weight ...	ORPHA:440437
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:529665
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis	OMIM:269150
Nipah Virus Disease	Hypotension, Anorexia	ORPHA:99825
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal dental enamel morphology...	ORPHA:818
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Craniosynostosis, Renal cyst, Horseshoe kidney	OMIM:250410
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis	OMIM:619321
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Aromatic L-Amino Acid Decarboxylase Deficiency	Temperature instability, Intermittent hypothermia	OMIM:608643
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Weight loss	ORPHA:1164
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatitis, Gastrointestinal inflamm...	ORPHA:186
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Acute Lung Injury	Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea...	ORPHA:178320
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Elevated hepatic...	ORPHA:300298
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Cryptorchid...	OMIM:257300
Moynahan Syndrome	Cachexia	ORPHA:2574
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decrease...	ORPHA:89842
Primary Sjögren Syndrome	Renal insufficiency, Chronic active hepatitis, Myositis, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull...	OMIM:619488
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis	OMIM:229850
Dubowitz Syndrome	Hypospadias, Hydronephrosis	ORPHA:235
Alveolar Echinococcosis	Portal hypertension, Renal cyst, Weight loss, Budd-Chiari syndrome, Abnormal bladder morphology	ORPHA:284
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Failure to thrive, Weight loss	ORPHA:1842
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Osteopenia, Recurrent urinary tract infections, Hypertriglyc...	ORPHA:3455
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Small for gestational age, Hypertension, Arrhythmia, Severe fai...	OMIM:133540
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Micropenis	OMIM:209900
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hypoalbum...	ORPHA:67
Genitopalatocardiac Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia	ORPHA:2075
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Cryptogenic Organizing Pneumonia	Anorexia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r...	OMIM:619522
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, P...	ORPHA:100075
Rheumatoid Arthritis	Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Pde4D Haploinsufficiency Syndrome	Hypospadias, Obesity, Hypotension	ORPHA:439822
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration	OMIM:606631
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Hypoplasia of penis, Cachexia, Aggressive behavior, Obesity	ORPHA:85293
Prader-Willi Syndrome	Diabetes mellitus, Abdominal obesity, Attention deficit hyperactivity disorder, Failure to thrive...	ORPHA:739
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara...	ORPHA:139417
Distal Deletion 10Q	Failure to thrive, Patent ductus arteriosus, Functional abnormality of the bladder, Horseshoe kid...	ORPHA:96148
Schinzel-Giedion Syndrome	Inguinal hernia, Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolith...	ORPHA:798
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Small for gestational age, Pulmonary arterial hypertension	OMIM:613320
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Umbilical hernia, Hypocalcemia, Joint laxity	OMIM:620330
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Papillary renal cell carcinoma, Intracranial hemo...	ORPHA:363618
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Silver-Russell Syndrome	Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system	ORPHA:813
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Anorexia, Heart ...	ORPHA:100085
Atelosteogenesis Type I	Abnormal ossification involving the femoral head and neck, Multiple renal cysts, Absent or minima...	ORPHA:1190
Huntington Disease-Like 1	Restlessness, Weight loss	ORPHA:157941
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangi...	ORPHA:562639
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Cranioectodermal Dysplasia 2	Joint laxity, Renal insufficiency, Inguinal hernia, Craniosynostosis, Patent ductus arteriosus, R...	OMIM:613610
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Paroxysmal Hemicrania	Hypertension, Restless legs	ORPHA:157835
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Cellulitis, Ves...	OMIM:606232
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Stage 5 chronic kidney disease	OMIM:608612
Riddle Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Intraventricul...	ORPHA:420741
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Hydronephrosis	ORPHA:453504
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Hydronephrosis	ORPHA:352665
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Coccidioidomycosis	Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash...	ORPHA:228123
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Abnormality of connective tissue	ORPHA:399180
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Bradycardia, Hypotension	ORPHA:391673
Agel Amyloidosis	Keratoconjunctivitis sicca, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Testicu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Testicu...	ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Failure to thrive, Hyperex...	OMIM:619503
Waldenström Macroglobulinemia	Renal insufficiency	ORPHA:33226
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of...	ORPHA:2636
Classic Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:391
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:280000
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis, Failure to thrive	OMIM:216400
Pgm3-Cdg	Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr...	ORPHA:443811
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr...	ORPHA:2729
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum zinc, Low alkaline phosphatase	OMIM:201100
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Unicoronal s...	OMIM:616300
Jacobsen Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2308
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Follicular Lymphoma	Weight loss	ORPHA:545
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:221139
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Agitation, Truncal obesity	OMIM:219080
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Johanson-Blizzard Syndrome	Joint laxity, Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, U...	OMIM:243800
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst...	ORPHA:353281
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Weight loss	ORPHA:65682
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Autoimmune Lymphoproliferative Syndrome	Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C...	ORPHA:3261
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Agitation, Truncal obesity	OMIM:610475
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:36238
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Jaw claudication, Weight loss, Syncope, Bradycardia	ORPHA:221098
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Kaposiform Lymphangiomatosis	Pancreatic cysts, Fractures of the long bones, Osteolysis, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration	OMIM:600785
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Hajdu-Cheney Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Recurrent fractures, Patent ductus arteriosus, Osteopor...	ORPHA:955
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilical hernia	ORPHA:2241
Gangliocytoma	Polyphagia	ORPHA:251937
Mcdonough Syndrome	Cachexia	ORPHA:2471
Gm1 Gangliosidosis	Congestive heart failure, Weight loss, Cardiomyopathy, Dysphagia, Oral aversion, Failure to thrive	ORPHA:354
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Renal hyp...	OMIM:620005
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Hyperactivity, Self-mutilation, Cachexia	ORPHA:52503
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F...	OMIM:210710
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Dysphagia, Weight loss	ORPHA:216866
Craniopharyngioma	Type II diabetes mellitus, Polyphagia, Obesity	ORPHA:54595
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Sh...	ORPHA:538
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Polyphagia,...	ORPHA:1606
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal dysplasia, Renal cyst	OMIM:617260
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu...	ORPHA:90340
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca...	OMIM:608233
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Inguinal hernia, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ...	OMIM:617107
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis	ORPHA:449432
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration...	OMIM:615688
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis	OMIM:265380
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Joint laxity, Absent sternal ossification, Hypospadias, Contr...	OMIM:114290
Acrocephalopolydactylous Dysplasia	Omphalocele, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Cushing Disease	Increased urinary cortisol level, Myocardial infarction, Increased body weight, Hypertension, Cap...	ORPHA:96253
Tuberous Sclerosis 1	Dental enamel pits, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Shagreen patch	OMIM:191100
Chromosome 5Q12 Deletion Syndrome	Decreased body mass index, Hypotension	OMIM:615668
Poliomyelitis	Anorexia, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphagia	ORPHA:2912
Monosomy 18P	Hypertension	ORPHA:1598
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr...	ORPHA:3310
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Pfapa Syndrome	Weight loss	ORPHA:42642
Brucellosis	Pericarditis, Transient ischemic attack, Glomerulonephritis, Elevated circulating C-reactive prot...	ORPHA:1304
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Transient hyperphenylalaninemia, Compulsive behaviors	ORPHA:98808
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Contracture of the distal interphalangeal joint of the fingers, Cryptorchidism, ...	ORPHA:83617
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Charge Syndrome	Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney	ORPHA:138
Meckel Syndrome, Type 1	Omphalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Cryptorchidism, ...	OMIM:249000
Reactive Arthritis	Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Weight loss	ORPHA:29207
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Re...	OMIM:272460
Calvarial Doughnut Lesions With Bone Fragility	Elevated circulating alkaline phosphatase concentration	OMIM:126550
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Renal steatosis, He...	ORPHA:391665
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Multicystic kidney dysplasia, Failure to thrive, Patent ductus arteriosus, Craniofac...	OMIM:300373
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac...	OMIM:102700
Rett Syndrome	Cachexia, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical hand wringing	OMIM:312750
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Small for gestational age, Hyperammonemia, Hypertension, Mitral regurgita...	OMIM:220111
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Xq21 Microdeletion Syndrome	Hypertension, Renal artery stenosis, Obesity	ORPHA:1435
Hypophosphatasia, Adult	Low alkaline phosphatase	OMIM:146300
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration	OMIM:135100
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Hydronephrosis	OMIM:616268
Charge Syndrome	Omphalocele, Renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Horsesho...	OMIM:214800
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Hypertension, Obesity	ORPHA:69663
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Increased body weight	OMIM:615830
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro...	OMIM:620305
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Oromandibular Dystonia	Bruxism, Dysphagia, Weight loss	ORPHA:93958
Trichohepatoneurodevelopmental Syndrome	Elevated circulating alkaline phosphatase concentration, Recurrent pancreatitis, Decreased liver ...	OMIM:618268
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage	OMIM:300845
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Weight loss	ORPHA:3226
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa...	ORPHA:309854
Myhre Syndrome	Abnormal penis morphology, Epispadias, Hypospadias, Hypertension	ORPHA:2588
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Hypokalemia, Enamel hypoplasia	OMIM:170390
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Anaplastic Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:142
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Reynolds Syndrome	Calcinosis, Elevated hepatic transaminase, Erythema nodosum, Jaundice, Elevated circulating alkal...	OMIM:613471
Cronkhite-Canada Syndrome	Cachexia, Anorexia	ORPHA:2930
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:370348
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i...	ORPHA:167
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Self-injurious behavior, Cachexia	ORPHA:371364
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Acute kidney injury	ORPHA:90062
Meckel Syndrome 14	Decreased calvarial ossification, Polycystic kidney dysplasia	OMIM:619879
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Xeroderma Pigmentosum	Aminoaciduria	ORPHA:910
Pituitary Apoplexy	Hyponatremia, Hypertension, Hypotension	ORPHA:95613
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Hiatus hernia, Horseshoe ...	ORPHA:2538
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia, Redu...	ORPHA:1556
Hydrolethalus Syndrome 1	Hypospadias, Hydronephrosis	OMIM:236680
Primary Ciliary Dyskinesia	Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections	ORPHA:244
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli...	ORPHA:800
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis	OMIM:147920
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract	ORPHA:2273
Primary Myelofibrosis	Cachexia, Portal hypertension, Anorexia	ORPHA:824
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in...	ORPHA:51636
Rubinstein-Taybi Syndrome 1	Joint laxity, Hypospadias, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, P...	OMIM:180849
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Congenital diaphragmatic he...	ORPHA:1596
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Lipodystrophy, Reduced thyrox...	ORPHA:79318
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop...	ORPHA:217085
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias	OMIM:611962
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron...	ORPHA:709
Camurati-Engelmann Disease	Cachexia, Anorexia, Urinary retention, Hypertrophic cardiomyopathy, Slender build	ORPHA:1328
Developmental And Epileptic Encephalopathy 95	Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase	OMIM:618143
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Cerebrocostomandibular Syndrome	Calcaneal epiphyseal stippling, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contractu...	OMIM:117650
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop...	ORPHA:217093
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
African Trypanosomiasis	Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Aggressive behavior, Myoca...	ORPHA:3385
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno...	ORPHA:353277
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis	OMIM:135900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Hypertension, Abnormality...	ORPHA:95699
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Chronic Graft Versus Host Disease	Anorexia, Phimosis, Urinary bladder inflammation, Weight loss, Hematuria, Dysphagia	ORPHA:99921
Livedoid Vasculopathy	Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke, Abnormal circulat...	ORPHA:542643
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections	OMIM:248500
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Acromegaly	Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Vici Syndrome	Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ...	OMIM:242840
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Vesicoureteral reflux	OMIM:616975
Kaposi Sarcoma	Weight loss	ORPHA:33276
Thymic Carcinoma	Weight loss	ORPHA:99868
Focal Dermal Hypoplasia	Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney	OMIM:305600
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro...	OMIM:619573
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Long penis, Knee flexion cont...	ORPHA:3103
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Camp...	ORPHA:500095
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Acrorenal-Mandibular Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac...	OMIM:200980
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Ectopic kidney, Aggressive behavior, Obesity, Dysphagia, Ca...	OMIM:607872
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension	ORPHA:70578
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Histiocytoid Cardiomyopathy	Failure to thrive, Renal cyst, Polycystic ovaries	ORPHA:137675
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration	OMIM:610968
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Chronic Beryllium Disease	Weight loss	ORPHA:133
Medullary Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:1332
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Atypical Werner Syndrome	Renal neoplasm, Failure to thrive, Hypertriglyceridemia, Telangiectasia of the skin, Congestive h...	ORPHA:79474
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Hypokalemia, Pa...	ORPHA:91347
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Patent ductus arteriosus, Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Dysphagia, Weight loss	ORPHA:97286
Gorham-Stout Disease	Osteomyelitis, Elevated alkaline phosphatase of bone origin	ORPHA:73
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Weight loss, Mitral regurgitation, Dysphagia, Mildly elevated creatine ki...	OMIM:607459
Nijmegen Breakage Syndrome	Pollakisuria, Attention deficit hyperactivity disorder, Cachexia	ORPHA:647
Trisomy 10P	Small for gestational age, Multiple renal cysts, Abnormality of the kidney, Camptodactyly	ORPHA:171929
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Myocardial infarction, Anorexia, Increased body weight, Weight ...	ORPHA:99889
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections	OMIM:214500
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Elevated circulating alkaline phosphatase concentration, Eczema	OMIM:618162
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop...	ORPHA:881
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration	OMIM:614207
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension, Weight loss	ORPHA:98849
Tetrasomy 12P	Cachexia	ORPHA:884
Bullous Pemphigoid	Weight loss	ORPHA:703
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Weight loss	ORPHA:131
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:164310
Craniometadiaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:269300
Somatomammotropinoma	Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy	ORPHA:314769
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections	OMIM:615895
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, F...	OMIM:614008
Familial Thrombocytosis	Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary arterial hypertension	ORPHA:71493
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
C Syndrome	Omphalocele, Multicystic kidney dysplasia, Failure to thrive in infancy, Congenital diaphragmatic...	ORPHA:1308
Peters-Plus Syndrome	Joint laxity, Ureteral duplication, Hypospadias, Craniosynostosis, Limited elbow movement, Crypto...	OMIM:261540
Yunis-Varon Syndrome	Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Seve...	ORPHA:3472
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Hyperextensible thumb, Renal dysplasia, Joint laxity, Cyst of the ductus choledochus,...	ORPHA:480880
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Congenital diaphragmatic hernia, Polycystic kidney dysplasia	OMIM:616546
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia	ORPHA:139411
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Osteolysis, Nephroblastoma	ORPHA:1052
Hallermann-Streiff Syndrome	Hyperactivity, Small for gestational age, Telangiectasia, Hypertension, Pulmonary arterial hypert...	OMIM:234100
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Small for gestational age, Weight loss	ORPHA:424
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arte...	OMIM:312870
Neurofibromatosis, Type I	Hypertension, Renal artery stenosis	OMIM:162200
Proteus Syndrome	Macroorchidism, Abnormal dental enamel morphology, Cachexia, Testicular neoplasm, Craniosynostosi...	ORPHA:744
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Eiken Syndrome	Elevated circulating alkaline phosphatase concentration	OMIM:600002
Otopalatodigital Syndrome, Type Ii	Omphalocele, Hypospadias, Elbow contracture, Cryptorchidism, Sclerosis of skull base, Nonossified...	OMIM:304120
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Intracranial hemorrhage, Hypertension,...	ORPHA:394
Acrodermatitis Enteropathica	Failure to thrive, Anorexia, Weight loss	ORPHA:37
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections	OMIM:300972
Femoral-Facial Syndrome	Inguinal hernia, Renal agenesis, Abnormal renal collecting system morphology, Limited elbow movem...	OMIM:134780
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Obesity	OMIM:614947
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla...	ORPHA:991
Infantile Krabbe Disease	Abnormal heart rate variability, Failure to thrive, Cachexia	ORPHA:206436
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the...	OMIM:208050
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Micropenis, Insulin resistance, Obes...	ORPHA:64
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Elevated circulat...	ORPHA:2388
Cerebrocostomandibular Syndrome	Tracheomalacia, Multicystic kidney dysplasia	ORPHA:1393
Lynch Syndrome	Gastrointestinal hemorrhage, Attention deficit hyperactivity disorder, Weight loss	ORPHA:144
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Weight loss	ORPHA:79078
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Acne	ORPHA:785
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Hennekam-Beemer Syndrome	Arrhythmia, Failure to thrive, Telangiectasia of the skin, Hypotension	ORPHA:2135
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Short Syndrome	Weight loss	ORPHA:3163
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Right unicoro...	ORPHA:261537
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi...	ORPHA:2968
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Decreased body weight, Hypospadias, Urinary incontinence, Abnormali...	ORPHA:2152
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Weight loss	ORPHA:99819
Shwachman-Diamond Syndrome	Recurrent bacterial infections, Sepsis, Recurrent viral infections	ORPHA:811
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin	OMIM:619543
Marshall-Smith Syndrome	Premature ventricular contraction, Hypertension, Decreased body weight, Pulmonary arterial hypert...	OMIM:602535
Neurofibromatosis Type 1	Hypertension, Attention deficit hyperactivity disorder, Abnormality of the upper urinary tract	ORPHA:636
Pemphigus Vulgaris	Weight loss	ORPHA:704
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital d...	ORPHA:199
Wolman Disease	Cachexia	ORPHA:75233
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Right unicoro...	ORPHA:261552
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Cardiomyopathy, Hypertension, Abnormal temper ta...	ORPHA:580
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi...	ORPHA:576
Apert Syndrome	Hypertension	ORPHA:87
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Poems Syndrome	Pulmonary arterial hypertension, Weight loss	ORPHA:2905
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Urethral at...	ORPHA:564
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo...	ORPHA:97685
Pneumocystosis	Weight loss	ORPHA:723
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Hypertensio...	OMIM:308205
Costello Syndrome	Renal insufficiency	OMIM:218040
Granulomatosis With Polyangiitis	Retinal hemorrhage, Weight loss, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Osteoarthritis, Cystocele, Cigarette-paper scars, O...	ORPHA:286
Estrogen Resistance	Elevated alkaline phosphatase of bone origin, Acne	OMIM:615363
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Viss Syndrome	Joint laxity, Inguinal hernia, Patent ductus arteriosus, Generalized joint laxity, Umbilical hern...	OMIM:619472
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ...	ORPHA:221
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Anorexia, Myocarditis, Vasculitis, Weight ...	ORPHA:50918
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Hematochezia, Melena, Intestinal bleeding, Hypoalbuminemia	ORPHA:79076
Bannayan-Riley-Ruvalcaba Syndrome	Intracranial hemorrhage, Angina pectoris, Cachexia, Telangiectasia	ORPHA:109
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Fraser Syndrome	Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Rena...	ORPHA:2052
Gallbladder Neuroendocrine Tumor	Anorexia, Weight loss	ORPHA:100086
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Anorexia, Weight loss, Hypoalbuminemia, Va...	OMIM:619381
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Myhre Syndrome	Hypertension, Aortic valve stenosis, Small for gestational age, Obesity	OMIM:139210
Familial Pancreatic Carcinoma	Anorexia, Weight loss	ORPHA:1333
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension	ORPHA:100079
Hereditary Angioedema Type 1	Hypotension, Dysphagia	ORPHA:100050
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Elbow flexion contracture, Renal cyst, Atypical scar...	OMIM:113620
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Rat-Bite Fever	Myocarditis, Pericarditis, Weight loss	ORPHA:31205
Klatskin Tumor	Weight loss	ORPHA:99978
Roberts-Sc Phocomelia Syndrome	Hypospadias, Ankle flexion contracture, Craniosynostosis, Cryptorchidism, Patent ductus arteriosu...	OMIM:268300
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Humeroradial synostosis, Renal hypoplasia, Polycystic ...	ORPHA:3404
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Dysphagia, Weight loss	ORPHA:2020
Prolactinoma	Hypotension	ORPHA:2965
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Anorexia	ORPHA:1969
Nocardiosis	Pericarditis, Anorexia, Weight loss	ORPHA:31204
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Marfan Syndrome	Congestive heart failure, Attention deficit hyperactivity disorder, Slender build, Cachexia	ORPHA:558
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
Immunodeficiency 31C	Weight loss	OMIM:614162
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Paten...	OMIM:601803
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Abnormal temper tantrums, Pulmonary arterial hypertension, Cach...	ORPHA:2072
Seckel Syndrome	Cachexia	ORPHA:808
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ectopic kidney, Patent ductus arte...	OMIM:164210
Tropical Pancreatitis	Weight loss	ORPHA:103918
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level	OMIM:300106
Malt Lymphoma	Weight loss	ORPHA:52417
Stickler Syndrome	Arrhythmia, Slender build, Cachexia	ORPHA:828
Plague	Tachycardia, Anorexia, Hematemesis, Hypotension, Arrhythmia	ORPHA:707
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Carney Complex	Hypertension, Increased body weight, Congestive heart failure, Abdominal obesity	ORPHA:1359
Norrie Disease	Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A...	ORPHA:649
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494

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 Umod

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 Umod.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Umodl1^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Umodl1^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Umodl1^{tm1a(KOMP)Wtsi}	PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Umodl1^{tm1a(KOMP)Wtsi}	PMC5827107

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
Umod^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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